| Authors: |
Rius R; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Blakes AJM; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., De Jonghe J; The Genome Function Laboratory, The Francis Crick Institute, London, UK., Lecoquierre F; Big Data Institute, University of Oxford, Oxford, UK.; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, Génétique médicale, Nantes, France., Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Alvi JR; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan., Amblard F; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Ansari M; South East Scotland Clinical Genetics Service, NHS lothian, Edinburgh, UK., Arlt A; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University of Bonn, Bonn, Germany., Austin-Tse C; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA., Baer S; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, Illkirch, France., Balasubramanian M; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Balton EV; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Barcia G; Genomic Medecine of Rare Disease, Necker Hospital, Paris, France.; Imagine Institute, Paris, France., Beleza-Meireles A; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Blanc P; Laboratoire SeqOIA, Paris, France., Bramswig NC; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Buchzik D; Department of Neuropediatrics, Diak Klinikum Landkreis Schwäbisch Hall, Schwäbisch Hall, Germany., Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Campbell J; South East Scotland Clinical Genetics Service, NHS lothian, Edinburgh, UK., Coutton C; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Dargie N; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Dipple KM; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Dieux A; CHU Lille, ULR7364 - RADEME - Maladies Rares du Développement Embryonnaire, Lille, France.; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France., Dixit A; Clinical Genetics, Nottingham University Hospitals, Nottingham, UK., Dreyer L; Genetic Health WA, Perth, Western Australia, Australia., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, CRBS, Université de Strasbourg, Strasbourg, France., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, Western Australia, Australia., Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Genomics and Inherited Diseases Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Geiger V; Genetikum, MVZ genetikum GmbH, Neu-Ulm, Germany., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Glass I; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Grunewald O; U1172-LilNCog-Lille Neuroscience & Cognition, CHU de Lille, Lille, France.; Laboratoire de Genopathies, CHU Lille, Lille, France., Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN, Tours, France., Haack TB; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University, Tübingen, Germany., Hadj Abdallah H; Genomic Medecine of Rare Disease, Necker Hospital, Paris, France.; Imagine Institute, Paris, France., Harbuz R; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Helbig I; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Horvath J; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University of Bonn, Bonn, Germany., Isidor B; Service de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Centre Hospitalier Universitaire de Nantes, Nantes, France., Jacquemont ML; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN, Tours, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU Genomeds, CHRU de Tours, Tours, France., Jamie F; Rare Disease Institute, Division of Genetics and Metabolism and Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA., Jeanne M; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN, Tours, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU Genomeds, CHRU de Tours, Tours, France.; PRISME division for congenital and Developmental Disorders, Department of Genetics, Hôpital de l'Estran, Avranches, France., Kessler R; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute for Medical Biometry and Statistics, Marburg University, Marburg, Germany., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Kotzaeridou U; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University of Bonn, Bonn, Germany., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Baldiri Reixac 4, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia., Levy RJ; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA., Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Marijon P; Laboratoire SeqOIA, Paris, France., McGinnis KE; Genetic Health WA, Perth, Western Australia, Australia., Mendez R; Cardiovascular Medicine, Stanford University, Stanford, CA, USA., Messaoud O; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Nava C; Laboratoire SeqOIA, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Département de Génétique, Hôpital de la Pitié Salpêtrière, Paris, France., Nizard M; Genomic Medecine of Rare Disease, Necker Hospital, Paris, France.; Imagine Institute, Paris, France.; Paris Cité University, Paris, France., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., O'Leary MC; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Olivieri S; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University, Tübingen, Germany., Parida A; Department of Paediatric Neurology, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK., Pehlivan D; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Prentice AJ; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Reuter CM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Cardiovascular Medicine, Stanford University, Stanford, CA, USA., Satre V; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Schluth-Bolard C; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, Université de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Smol T; CHU Lille, ULR7364 - RADEME - Maladies Rares du Développement Embryonnaire, Lille, France., Sultan T; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan., Taylor J; Department of Radiology, NHS lothian, Edinburgh, UK., Thauvin-Robinet C; Université Bourgogne Europe - CHU Dijon Bourgogne - Inserm U1231 CTM GAD, Centre de Référence des maladies neurogénétiques, Laboratoire de Génomique Médicale, Dijon, France., Thevenon J; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Uebergang E; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Ueberberg S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Vincent-Delorme C; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.; Consultation de génétique, CH Arras, Arras, France., Wassmer E; Birmingham Children's Hospital, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, Birmingham, UK., Westwood E; NHS Education for Scotland, NHS Scotland, Edinburgh, UK., Wheeler MT; Cardiovascular Medicine, Stanford University, Stanford, CA, USA., Gulec EY; Department of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkey.; Medical Genetics Clinic, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkey., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Vossough A; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Findlay GM; The Genome Function Laboratory, The Francis Crick Institute, London, UK., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia. cas.simons@populationgenomics.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. cas.simons@populationgenomics.org.au., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk. |