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ResearchIn-Press PreviewDevelopmentGenetics
Open Access | 
10.1172/JCI171235
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li,1 Qin Wang,2 Allan Bayat,3 Mark R. Battig,1 Yijing Zhou,4 Daniëlle G.M. Bosch,5 Gijs van Haaften,6 Leslie Granger,7 Andrea K. Petersen,7 Luis A. Pérez-Jurado,8 Gemma Aznar-Laín,9 Anushree Aneja,2 Miroslava Hancarova,10 Sarka Bendova,10 Martin Schwarz,10 Radka Kremlíková Pourová,10 Zdenek Sedlacek,10 Beth A. Keena,11 Michael E. March,1 Cuiping Hou,1 Nora O'Connor,1 Elizabeth J. Bhoj,1 Margaret H. Harr,12 Gabrielle Lemire,13 Kym M. Boycott,13 Meghan C. Towne,14 Megan Li,15 Mark Tarnopolsky,16 Lauren Brady,16 Michael J. Parker,17 Hanna Faghfoury,18 Lea Kristin Parsley,19 Emanuele Agolini,20 Maria Lisa Dentici,21 Antonio Novelli,20 Meredith S. Wright,22 Rachel Palmquist,23 Khanh Lai,24 Marcello Scala,25 Pasquale Striano,26 Michele Iacomino,27 Federico Zara,27 Annina Cooper,29 Timothy J. Maarup,30 Melissa Byler,31 Robert Roger Lebel,31 Tugce B. Balci,32 Raymond J. Louie,33 Michael J. Lyons,33 Jessica Douglas,34 Catherine B. Nowak,35 Alexandra Afenjar,36 Juliane Hoyer,37 Boris Keren,38 Saskia M. Maas,39 Mahdi M. Motazacker,40 Julian A. Martinez-Agosto,41 Ahna M. Rabani,41 Elizabeth M. McCormick,43 Marni Falk,43 Sarah M. Ruggiero,44 Ingo Helbig,44 Rikke S. Møller,3 Lino Tessarollo,45 Francesco Tomassoni-Ardori,45 Mary Ellen Palko,45 Tzung-Chien Hsieh,46 Peter M. Krawitz,46 Mythily Ganapathi,47 Bruce D. Gelb,48 Vaidehi Jobanputra,49 Ashley Wilson,47 John Greally,50 Sébastien Jacquemont,51 Khadijé Jizi,51 Bruel Ange-Line,52 Chloé Quelin,53 Vinod K. Misra,54 Erika Chick,54 Corrado Romano,55 Donatella Greco,56 Alessia Arena,56 Manuela Morleo,57 Vincenzo Nigro,57 Rie Seyama,59 Yuri Uchiyama,59 Naomichi Matsumoto,59 Ryoji Taira,60 Katsuya Tashiro,61 Yasunari Sakai,60 Gökhan Yigit,62 Bernd Wollnik,62 Michael Wagner,63 Barbara Kutsche,63 Anna C.E. Hurst,64 Michelle L. Thompson,65 Ryan J. Schmidt,66 Linda M. Randolph,67 Rebecca C. Spillmann,68 Vandana Shashi,68 Edward J. Higginbotham,69 Dawn Cordeiro,70 Amanda Carnevale,70 Gregory Costain,70 Tayyaba Khan,70 Benoît Funalot,71 Frederic Tran Mau-Them,52 Luis Fernandez Garcia Moya,72 Sixto García-Miñaúr,72 Matthew Osmond,13 Lauren Chad,73 Nada Quercia,74 Diana Carrasco,75 Chumei Li,76 Amarilis Sanchez-Valle,77 Meghan Kelley,77 Mathilde Nizon,78 Brynjar O. Jensson,79 Patrick Sulem,79 Kari Stefansson,80 Svetlana Gorokhova,81 Tiffany Busa,81 Marlène Rio,82 Hamza Hadj Abdallah,82 Marion Lesieur-Sebellin,82 Jeanne Amiel,84 Véronique Pingault,84 Sandra Mercier,78 Marie Vincent,78 Christophe Philippe,52 Clemence Fatus-Fauconnier,86 Kathryn Friend,87 Rebecca K. Halligan,88 Sunita Biswas,88 Jane M.R. Rosser,89 Cheryl Shoubridge,90 Mark A. Corbett,90 Christopher Barnett,90 Jozef Gecz,90 Kathleen A. Leppig,92 Anne Slavotinek,93 Carlo Marcelis,94 Rolph Pfundt,94 Bert B.A. de Vries,94 Marjon A. van Slegtenhorst,5 Alice S. Brooks,5 Benjamin Cogne,78 Thomas Rambaud,95 Zeynep Tümer,96 Elaine H. Zackai,97 Naiara Akizu,98 Yuanquan Song,98 and Hakon Hakonarson12
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Li, D.
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Wang, Q. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Bayat, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Battig, M.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Zhou, Y. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Bosch, D. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
van Haaften, G.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Granger, L. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Petersen, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Pérez-Jurado, L.
in:
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PubMed
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Google Scholar
|
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Aznar-Laín, G. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Aneja, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Hancarova, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Bendova, S. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Schwarz, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Kremlíková Pourová, R. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Sedlacek, Z. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Keena, B. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
March, M.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Hou, C. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by O'Connor, N. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Bhoj, E. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Harr, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Lemire, G.
in:
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|
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Boycott, K. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Towne, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Li, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Tarnopolsky, M.
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Brady, L. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Parker, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Faghfoury, H. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Parsley, L. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Agolini, E.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Dentici, M.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Novelli, A.
in:
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Wright, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Palmquist, R. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Lai, K. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Scala, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Striano, P.
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Iacomino, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Zara, F. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Cooper, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Maarup, T. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Byler, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Lebel, R. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Balci, T. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Louie, R. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Lyons, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Douglas, J. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Nowak, C. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Afenjar, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Hoyer, J. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Keren, B.
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Maas, S. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Motazacker, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Martinez-Agosto, J. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Rabani, A. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by McCormick, E. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Falk, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Ruggiero, S. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by
Helbig, I.
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Møller, R. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Tessarollo, L. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Tomassoni-Ardori, F. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Palko, M. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
Find articles by Hsieh, T. in: JCI | PubMed | Google Scholar
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain
9Pediatric Neurology, Hospital del Mar Research Institute, Barcelona, Spain
10Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
11Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, United States of America
12Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
13Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
14Ambry Genetics, Aliso Viejo, United States of America
15Invitae, San Francisco, United States of America
16Division of Neuromuscular and Neurometabolic Disorders, Department of Paedi, McMaster University Children's Hospital, Hamilton, Canada
17Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom
18The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Canada
19University of Illinois College of Medicine, Mercy Health Systems, Rockford, United States of America
20Laboratory of Medical Genetics, Translational Cytogenomics Research Unit,, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
21Medical Genetics Unit, Academic Department of Pediatrics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
22Clinical Genomics Center, Rady Children's Institute for Genomic Medicine, San Diego, United States of America
23Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, United States of America
24Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, United States of America
25Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genoa, Genoa, Italy
26Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Mater, University of Genova, Genova, Italy
27Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
28Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
29Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, United States of America
30Department of Genetics, Kaiser Permanente, Los Angeles, United States of America
31Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, United States of America
32Division of Genetics, Department of Pediatrics, London Health Sciences Centre, London, Canada
33Genetics, Greenwood Genetic Center, Greenwood, United States of America
34Division of Genetics and Genomics, Boston Children's Hospital, Boston, United States of America
35Division of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, United States of America
36Genetics Service, Reference Center for Intellectual Disabilities of Rare Ca, Hospital Trousseau, Paris, France
37Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
38Department of Genetics, University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
39Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
40Laboratory of Genome Diagnostics, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
41Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, United States of America
42Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles,, United States of America
43Mitochondrial Medicine Frontier Program, Division of Human Genetics, Depart, Children's Hospital of Philadelphia, Philadelphia, United States of America
44Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, United States of America
45Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, United States of America
46Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany
47Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, United States of America
48Mindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai, New York, United States of America
49CLIA, New York Genome Center, New York, United States of America
50Department of Genetics, Albert Einstein College of Medicine, Bronx, United States of America
51Division of Genetics and Genomics, CHU Ste-Justine Hospital, Montreal, Canada
52GAD - University Burgundy Franche-Comté, UMR1231 Inserm, Dijon, France
53Medical Genetics Department, CLAD-Ouest Rare Disease Reference Center, University Hospital South, Rennes, France
54Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, United States of America
55Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy
56Oasi Research Institute-IRCCS, Troina, Italy
57Telethon Institute of Genetics and Medicine, Naples, Italy
58Telethon Institute of Genetics and Medicine, naples, Italy
59Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
60Department of Pediatrics, Kyushu University, Fukuoka, United States of America
61Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan
62Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany
63Kinderzentrum Oldenburg, Diakonisches Werk Oldenburg, Oldenburg, Germany
64Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
65HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
66Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, United States of America
67Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, United States of America
68Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America
69Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
70Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
71INSERM U.573, Paris, France
72Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain
73Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
74Department of Genetic Counselling, The Hospital for Sick Children, Ottawa, Canada
75Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, United States of America
76Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Canada
77Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, United States of America
78Medical Genetics Service, Nantes University Hospital, Nantes, France
79deCODE genetics, Amgen Inc., Reykjavik, Iceland
80Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
81Department of Medical Genetics, Timone Hospital, Marseille, France
82Department of Genomic Medicine of Rare Disorders, Necker Hospital, PARIS, France
83Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France
84Rare Disease Genetics Department, Necker Hospital, Paris, France
85Rare Disease Genetics Department, Necker Hospital, CRETEIL, France
86Competence Center for Hereditary Metabolic Diseases, University Hospital Dijon Burgundy, Dijon, France
87Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
88Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
89Department of General Medicine, Women's and Children's Hospital, Adelaide, Australia
90Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, Australia
91Adelaide Medical School and Robinson Research Institute, University of Adelaide, North Adelaide, Australia
92Genetic Services, Kaiser Permenante of Washington, Seattle, United States of America
93Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America
94Department of Human Genetics, Donders Institute for Brain, Cognition and Be, Radboud University Medical Center, Nijmegen, Netherlands
95SeqOIA Multi-Site Medical Biology Laboratory, Paris, France
96Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup - Copenhagen, Denmark
97Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
98Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America
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1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America
2Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America
3Department of Regional Health Research, University of Southern Denmark, Dianalund, Denmark
4Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America
5Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
6Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
7Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, United States of America
8Universitat Pompeu Fabra, Barcelona, Spain