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ResearchIn-Press PreviewDevelopmentGenetics
Open Access | 
10.1172/JCI182100
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson,1 Julien Paccaud,1 Martina Orefice,2 Estelle Colin,1 Outi Mäkitie,3 Valérie Cormier-Daire,4 Raissa Relator,5 Sourav Ghosh,5 Jean-Marc Strub,6 Christine Schaeffer-Reiss,6 Carlo Marcelis,7 David A. Koolen,7 Rolph Pfundt,8 Elke de Boer,7 Lisenka E.L.M. Vissers,7 Thatjana Gardeitchik,8 Lonneke A.M. Aarts,9 Tuula Rinne,7 Paulien A. Terhal,10 Nienke E. Verbeek,10 Linda C. Zuurbier,11 Astrid S. Plomp,12 Marja W. Wessels,13 Stella A. de Man,13 Arjan Bouman,13 Lynne M. Bird,14 Reem Saadeh-Haddad,15 Maria J. Guillen Sacoto,16 Richard Person,16 Catherine Gooch,17 Anna C.E. Hurst,18 Michelle L. Thompson,19 Susan M. Hiatt,19 Rebecca O. Littlejohn,20 Elizabeth R. Roeder,20 Mari Mori,21 Scott Hickey,21 Jesse M. Hunter,22 Kristy Lee,23 Khaled Osman,24 Rana Halloun,25 Ruxandra Bachmann-Gagescu,26 Anita Rauch,26 Dagmar Wieczorek,27 Konrad Platzer,28 Johannes Luppe,28 Laurence Duplomb-Jego,1 Fatima El It,1 Yannis Duffourd,1 Frédéric Tran Mau-Them,1 Celine Huber,4 Christopher T. Gordon,4 Fulya Taylan,29 Riikka E. Mäkitie,30 Alice Costantini,29 Helena Valta,3 Stephen Robertson,31 Gemma Poke,32 Michel Francoise,33 Andrea Ciolfi,34 Marco Tartaglia,34 Nina Ekhilevitch,35 Rinat Zaid,35 Michael A. Levy,36 Jennifer Kerkhof,36 Haley McConkey,36 Julian Delanne,1 Martin Chevarin,1 Valentin Vautrot,1 Valentin Bourgeois,1 Sylvie Nguyen,1 Nathalie Marle,37 Patrick Callier,37 Hana Safraou,1 Angela Morgan,38 David J. Amor,38 Michael Hildebrand,38 David Coman,39 Marion Aubert Mucca,40 Julien Thevenon,41 Fanny Laffargue,42 Frédéric Bilan,41 Céline Pebrel-Richard,41 Grace Yoon,43 Michelle M. Axford,44 Luis A. Pérez-Jurado,45 Marta Sevilla-Porras,45 Douglas Black,46 Christophe Philippe,1 Bekim Sadikovic,5 Christel Thauvin-Robinet,1 Laurence Olivier-Faivre,1 Michela Ori,2 Quentin Thomas,1 and Antonio Vitobello1
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Masson, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Paccaud, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Orefice, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Colin, E. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Cormier-Daire, V. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Relator, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Ghosh, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Strub, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Schaeffer-Reiss, C. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Marcelis, C. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Koolen, D.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Pfundt, R.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by de Boer, E. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Vissers, L. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Gardeitchik, T. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Aarts, L. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Rinne, T. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Terhal, P. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Verbeek, N. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Zuurbier, L. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Plomp, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Wessels, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by de Man, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Bouman, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Bird, L. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Saadeh-Haddad, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Guillen Sacoto, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Person, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Gooch, C. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Thompson, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Hiatt, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Littlejohn, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Roeder, E. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Hickey, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Hunter, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Lee, K. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Osman, K. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Halloun, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Bachmann-Gagescu, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Rauch, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Wieczorek, D. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Platzer, K. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Luppe, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Duplomb-Jego, L. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by El It, F. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Duffourd, Y. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Tran Mau-Them, F.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Huber, C. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Gordon, C.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by
Taylan, F.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Mäkitie, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Costantini, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Valta, H. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Robertson, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Poke, G. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Francoise, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Ciolfi, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Tartaglia, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Ekhilevitch, N. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Zaid, R. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Levy, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Kerkhof, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by McConkey, H. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Delanne, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Chevarin, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Vautrot, V. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Bourgeois, V. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Nguyen, S. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Marle, N. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Callier, P. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Safraou, H. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Morgan, A. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Amor, D. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Hildebrand, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Coman, D. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Aubert Mucca, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Thevenon, J. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Laffargue, F. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Bilan, F. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Pebrel-Richard, C. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Yoon, G. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Axford, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Pérez-Jurado, L.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Sevilla-Porras, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Black, D. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Philippe, C.
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Sadikovic, B. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
Find articles by Ori, M. in: PubMed | Google Scholar
1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France
2Department of Biology, University of Pisa, Pisa, Italy
3Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospita, Helsinki, Finland
4INSERM UMR1163, Imagine Institute, Paris University, Paris, France
5Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
6Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, France
7Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands
8Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
9Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands
10Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
11Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands
12Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
13Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
14Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, San Diego, United States of America
15Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, United States of America
16GeneDx, LLC, Gaithersburg, United States of America
17Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, United States of America
18Department of Genetics, University of Alabama at Birmingham, Birmingham, United States of America
19HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
20Department of Pediatrics, Baylor College of Medicine, San Antonio, United States of America
21Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
22Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America
23Caris Life Sciences, Phoenix, United States of America
24Genetics Institute, Rambam Health Care Campus, Haifa, Israel
25Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel
26Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
27Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany
28Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
29Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
30Folkhälsan Institute of Genetics, Helsinki, Finland
31Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
32Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand
33Centre Hospitalier William Morey, Chalon-sur-Saône, France
34Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
35The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
36Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada
37Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France
38Murdoch Children's Research Institute, Parkville, Australia
39Queensland Children's Hospital, Brisbane, Australia
40Service de Génétique Médicale, Hôpital Purpan, CHU, Toulouse, France
41GCS AURAGEN, Lyon, France
42Service de Génétique Médicale, CHU de Clermont- Ferrand, Clermont- Ferrand, France
43Divisions of Neurology and Clinical and Metabolic Genetics, Department of P, The Hospital for Sick Children, University of Toronto, Toronto, Canada
44Division of Genome Diagnostics, Department of Laboratory Medicine and Patho, The Hospital for Sick Children, University of Toronto, Toronto, Canada
45Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain
46Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, United States of America
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Published September 18, 2025 - More info
Copyright © 2025, Masson et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)