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ResearchIn-Press PreviewClinical ResearchDevelopmentGenetics
Open Access | 
10.1172/JCI199698
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua,1 Mohamad-Reza Aghanoori,2 Melissa J. MacPherson,3 Yi Ren,4 Shehani V. Siripala,5 Yifan Yang,2 Yvonne Yan Yan Or,2 Malea Nguyen,4 Robert Duba-Kiss,2 Daniel Feng,4 Laura Williams,2 Christopher J. Gafuik,6 GengYi Wang,7 Chloe Quelin,8 Boris Keren,9 Sarah Schuhmann,10 Georgia Vasileiou,10 Alexia Bourgois,11 Antonio Vitobello,12 Christophe Philippe,13 Zornitza Stark,14 Richard J. Leventer,14 George McGillivray,14 Frederic Tran Mau-Them,12 Marine Tessarech,15 Clément Prouteau,16 Phillis Lakeman,17 Mahdi M. Motazacker,17 Donald R. Latner,18 Raymond C. Caylor,19 Yvette van Ierland,20 Eloise Prijoles,19 Angie Lichty,19 Evangelos Theodorou,21 David A. Sweetser,21 Edward Steel,22 Jan Cobben,23 Majed J. Dasouki,24 Daniel G. Calame,25 Bertrand Isidor,26 Benjamin Cogné,26 Mitchell Kesler,2 Brooke Rackel,2 Isabel Clark,2 Deborah M. Kurrasch,2 G. Campbell Teskey,4 James Ellis,27 Guiqiong He,7 Scott D. Ryan,5 Douglas J. Mahoney,1 A. Micheil Innes,2 Jonathan R. Epp,4 and Guang Yang1
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Hua, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Aghanoori, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by MacPherson, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Ren, Y. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Siripala, S. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Yang, Y. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Or, Y. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Nguyen, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Duba-Kiss, R. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Feng, D. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Williams, L. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Gafuik, C. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Wang, G. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Quelin, C. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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Schuhmann, S.
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Bourgois, A. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Vitobello, A. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Philippe, C. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Leventer, R. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by McGillivray, G. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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Tran Mau-Them, F.
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Tessarech, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Prouteau, C. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Lakeman, P. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Motazacker, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Latner, D. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Caylor, R. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by van Ierland, Y. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Prijoles, E. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Lichty, A. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Theodorou, E. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Sweetser, D. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Steel, E. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Cobben, J. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Dasouki, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Calame, D. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Isidor, B. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Kesler, M. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by He, G. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Ryan, S. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Mahoney, D. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
Find articles by Epp, J. in: PubMed | Google Scholar
1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
3Department of Medical Genetics, University of Alberta, Edmonton, Canada
4Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, Canada
5Department of Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Canada
6Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada
7Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
8Service de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
9Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
10Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
11Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France
12Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231, équipe, Dijon, France
13Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
14Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
15Department of Medical Genetics, Angers University Hospital, Angers, France
16Service de Génétique Médicale, CHU d'Angers, Angers, France
17Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
18HudsonAlpha Institute for Biotechnology, Huntsville, United States of America
19Greenwood Genetic Center, Greenwood, United States of America
20Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
21Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and, Massachusetts General Hospital, Boston, United States of America
22Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
23Section of Genomics and Genetics, Imperial College London, London, United Kingdom
24Department of Medical Genetics & Genomics, AdventHealth Genomics & Personalized Health at Orlando, Orlando, United States of America
25Section of Pediatric Neurology and Developmental Neurosciences, Department , Baylor College of Medicine, Houston, United States of America
26Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
27Department of Molecular Genetics, University of Toronto, Toronto, Canada
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Published June 11, 2026 - More info
Copyright © 2026, Hua 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 © 2026 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)