Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch
Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK
Reza Asadollahi
Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany
Aisha Ahmad, Mareike Lohse, Mrinalini Ranjan, Jeong Seop Rhee, Holger Taschenberger, Nils Brose & Noa Lipstein
Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany
Aisha Ahmad, Mareike Lohse, Siqi Sun, Tillmann Utesch, Jonas D. Sommer, Dragana Ilic, Kati Fischermanns, Moritz Boll, Han Sun & Noa Lipstein
Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA
Jasmine Shahanoor Hinzen, Murugesh Padmanarayana & Jeremy S. Dittman
Institute of Neurophysiology, Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany
Boris Bouazza-Arostegui & Christian Rosenmund
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France
Chandran Ka, Sylvia Redon, Kevin Uguen & Gerald Le Gac
Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France
Chandran Ka, Sylvia Redon, Kevin Uguen & Gerald Le Gac
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France
Amélie Piton & Francesca Mattioli
Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
Bertrand Isidor
Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
Katrin Õunap & Karit Reinson
Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
Katrin Õunap & Karit Reinson
Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Monica H. Wojcik
Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Monica H. Wojcik
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Monica H. Wojcik
Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Christian R. Marshall
Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada
Saadet Mercimek-Andrews
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Naomichi Matsumoto & Noriko Miyake
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
Noriko Miyake
Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil
Bruno de Oliveira Stephan, Rachel Sayuri Honjo, Debora R. Bertola & Chong Ae Kim
Division of Clinical Genetics, Joe DiMaggio Children’s Hospital, Hollywood, FL, USA
Roman Yusupov
Center for Pediatric Neurological Disease Research, St. Jude Children’s Hospital, Memphis, TN, USA
Heather C. Mefford
Brain and Mitochondrial Research Group, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
John Christodoulou & Nicole J. Lake
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
John Christodoulou, Natasha J. Brown & Zornitza Stark
Department of Metabolic Medicine, The Royal Children’s Hospital, Melbourne, Victoria, Australia
Joy Lee
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Joy Lee, Oliver Heath, Natasha J. Brown, Naomi Baker, Zornitza Stark & Martin Delatycki
Department of Genetics, Yale School of Medicine, New Haven, CT, USA
Nicole J. Lake
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Shimriet Zeidler
Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands
Linda Zuurbier & Saskia M. Maas
Emma Children’s Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands
Chris C. de Kruiff
Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA
Farrah Rajabi, Lance H. Rodan & Stephanie A. Coury
Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
Farrah Rajabi
Division of Genetics, Brigham and Women’s Hospital, Boston, MA, USA
Stephanie A. Coury
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
Konrad Platzer, Henry Oppermann & Rami Abou Jamra
Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany
Skadi Beblo
Zentrum für Kinderneurologie, Hamburg, Germany
Caroline Maxton
Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland
Robert Śmigiel
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA
Hunter Underhill
Division of Neurology, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Holly Dubbs, Alyssa Rosen, Katherine L. Helbig, Ingo Helbig, Sarah McKeown Ruggiero & Mark P. Fitzgerald
Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Katherine L. Helbig, Ingo Helbig, Sarah McKeown Ruggiero & Mark P. Fitzgerald
The Center for Epilepsy and Neurodevelopmental Disorders, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Ingo Helbig
Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Ingo Helbig
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Ingo Helbig & Mark P. Fitzgerald
Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA
Carlos E. Prada
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Carlos E. Prada
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
Jeffrey Tenney
Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
Jeffrey Tenney
Division of Genetics and Metabolism, Nicklaus Children’s Hospital, Miami, FL, USA
Parul Jayakar
Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France
Jérémie Lefranc
Division of Biochemical Genetics, BC Children’s Hospital, Vancouver, British Columbia, Canada
Simone Race
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK
Stephanie Efthymiou, Reza Maroofian & Henry Houlden
Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium
Sandra Coppens
Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium
Nicolas Deconinck
School of Biotechnology, Madurai Kamaraj University, Madurai, India
Balasubramaniem Ashokkumar & Perumal Varalakshmi
Indira Gandhi Institute of Child Health, Bangalore, India
Vykunta Raju Gowda K
Bangalore Child Neurology and Rehabilitation Center, Bangalore, India
Vykunta Raju Gowda K
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
Fatemeh Eghbal & Ehsan Ghayoor Karimiani
Myelin Disorders Clinic, Department of Pediatric Neurology, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
Morteza Heidari
Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany
John Neidhardt & Marta Owczarek-Lipska
Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany
John Neidhardt & Marta Owczarek-Lipska
Department of Neuropediatrics, University Children’s Hospital, Klinikum Oldenburg, Oldenburg, Germany
G. Christoph Korenke
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA
Michael J. Bamshad
Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada
Philippe M. Campeau
Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Anna Lehman
Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
Laura G. Hendon
GeneDx, LLC, Gaithersburg, MD, USA
Ingrid M. Wentzensen, Kristin G. Monaghan & Yanmin Chen
The Hospital for Sick Children, Toronto, Ontario, Canada
Anna Szuto & Ronald D. Cohn
Department of Medical Genetics, Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Ping Yee Billie Au
Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Christoph Hübner
Institut für Medizinische Genetik und Humangenetik, Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany
Felix Boschann
BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité–Universitätsmedizin Berlin, Berlin, Germany
Felix Boschann
Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA
Kandamurugu Manickam
Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
Kandamurugu Manickam & Daniel C. Koboldt
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA
Daniel C. Koboldt
Arcensus GmbH, Rostock, Germany
Aboulfazl Rad & Gabriela Oprea
Department of Pediatrics, Women’s and Children’s Institute, Geisinger Medical Center, Danville, PA, USA
Kristine K. Bachman & Andrea H. Seeley
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
Emanuele Agolini & Alessandra Terracciano
Medical and Laboratory Genetics Unit, A.O.R.N. “Antonio Cardarelli”, Naples, Italy
Piscopo Carmelo
Corewell Health West Helen DeVos Children’s Hospital, Grand Rapids, MI, USA
Caleb Bupp & Bethany Grysko
The Institute for Rare Diseases, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Ramat Gan, Israel
Annick Rein-Rothschild
School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel
Annick Rein-Rothschild & Bruria Ben Zeev
Pediatric Neurology Unit, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Ramat Gan, Israel
Bruria Ben Zeev
Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA
Amy Margolin, Jennifer Morrison & Aditi Dagli
Greenwood Genetic Center, Greenwood, SC, USA
Elliot Stolerman, Raymond J. Louie & Camerun Washington
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
Servi J. C. Stevens & Malou Heijligers
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Fowzan S. Alkuraya
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
Fowzan S. Alkuraya
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Jasmin Lisfeld
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Axel Neu
Medical Department, Mendelics Genomic Analysis, São Paulo, Brazil
Fabíola Paoli Monteiro
Federal University of Ceará – UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil
André Luiz Santos Pessoa & Antonio Edvan Camelo-Filho
Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil
Fernando Kok
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA
Dwight Koeberl & Kacie Riley
Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France
Lydie Burglen
Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France
Diane Doummar & Bénédicte Héron
Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France
Cyril Mignot, Boris Keren, Perrine Charles & Caroline Nava
Department of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany
Felix P. Bernhard
Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité–Universitätsmedizin Berlin, Berlin, Germany
Andrea A. Kühn
Biochemistry and Molecular Medicine, Medical School OWL, Bielefeld University, Bielefeld, Germany
Sven Thoms
Trace Neuroscience, South San Francisco, CA, USA
Ryan D. Morrie, Shila Mekhoubad & Eric M. Green
University of Michigan School of Medicine, Ann Arbor, MI, USA
Sami J. Barmada
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
Aaron D. Gitler
Neuroproteomics Group, Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany
Olaf Jahn
Translational Neuroproteomics Group, Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany
Olaf Jahn
City Campus Light Microscopy Facility, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany
Mišo Mitkovski
Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
Heinrich Sticht
Children’s Hospital, University Zurich, Zurich, Switzerland
Anita Rauch
N.L., R.A., A. Rauch, H.T. and N. Brose conceptualized the study. N.L., R.A., A. Rauch, H.T., C.R., J.S.R., H. Sun, M.M., J.S.D., G.L.G. and H. Sticht devised the methodology. N.L., A.A., B.B.-A., H.T., R.A., M.L., M.M., M.P., D.I., P.B., T.U., M.B., M.R., J.S.D., G.L.G. and S.T. conducted the formal analysis. N.L., A.A., R.A., P.B., C.K., J.S.H., M.L., B.B.-A., S.S., T.U., J.D.S., D.I., O.J., M.B., M.P., K.F., D. Kraemer, J.D.S. and H. Sticht performed the investigation. N.L., N. Brose and R.A. wrote the original draft of the paper. N.L., R.A., P.B., M.L., M.M., T.U., H. Sticht, B.B.-A., C.K., G.L.G., J.S.D. and A.E.C.-F. were responsible for visualization. N.L., R.A., A. Rauch, N. Brose, C.R., J.S.D. and G.L.G. supervised the study. N.L., R.A., A. Rauch and N. Brose acquired funding. A.A.K., A. Rad, A.D., A.D.G., A.E.C.-F., A.H.S., A.L., A. Rosen, A.L.S.P., A.M., A.N., A.P., A.R.-R., A.S., A.T., B.A., B.B.Z., B.d.O.S., B.G., B.H., B.I., B.K., C.A.K., C. Maxton, C.B., C.C.d.K., C.E.P., C.H., C.N., C.R.M., C.W., C. Mignot, D.C.K., D.D., D.R.B., D. Koeberl, E.A., E.G.K., E.M.G., E.S., F.B., F.E., F.K., F.M., F.P.B., F.P.M., F.R., F.S.A., G.C.K., G.O., H.C.M., H.D., H.H., H.O., H.U., I.H., I.M.W., J. Lisfeld, J.C., J. Lefranc, J.M., J.N., J. Lee, J.T., K. Riley, K. Reinson, K.G.M., K.L.H., K.K.B., K.M., K.Õ., K.P., K.U., L.B., L.G.H., L.H.R., L.Z., M. Heijligers, M.D., M.H.W., M.J.B., M. Heidari, M.O.-L., M.P.F., N. Baker, N. Matsumoto, N.D., N.J.B., N.J.L., N. Miyake, O.H., P. Charles, P. Carmelo, P.J., P.M.C., P.V., P.Y.B.A., R.A.J., R.C., R.M., R.S.H., R.J.L., R.Ś., R.Y., R.D.M., S.A.C., S.C., S.B., S.E., S. Race, S.J.B., S.J.C.S., S.M., S.M.-A., S.M.M., S.M.R., S. Redon, S.Z., V.R.G.K., Y.C. and Z.S. acquired resources (genetic, diagnostic and clinical information). All authors read, reviewed, edited and approved the paper.
