Centre for Clinical Genetics, Sydney Children’s Hospital Network, Randwick, NSW, Australia
Elizabeth E. Palmer, Caitlin Forwood, Rani Sachdev & Rebecca Macintosh
Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia
Elizabeth E. Palmer, Matthew H. Nguyen, Rani Sachdev & Rebecca Macintosh
Istituto di Biofisica, CNR, Genova, Italy
Michael Pusch, Alessandra Picollo, Alva Hoff & Lisa Sigfrid
Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia
Matthew H. Nguyen & Sulekha Rajagopalan
Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany
Vanessa Suckow, Jessica Gibbons & Vera M. Kalscheuer
Department of Biomedical and Clinical Sciences, Linköping University, Linköping, 581 83, Sweden
Alva Hoff & Lisa Sigfrid
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon
Andre Megarbane
Institut Jerome Lejeune, Paris, France
Andre Megarbane
Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France
Mathilde Nizon, Benjamin Cogné & Claire Beneteau
Nantes Université, CNRS, INSERM, l’Institut du Thorax, Nantes, France
Mathilde Nizon & Benjamin Cogné
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Fowzan S. Alkuraya & Mais O. Hashem
Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Aziza Chedrawi
Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
Hannah Stamberger & Sarah Weckhuysen
Neurology Department, Antwerp University Hospital, Antwerp, Belgium
Hannah Stamberger & Sarah Weckhuysen
Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium
Sarah Weckhuysen
Department of Child Neurology & Metabolism, Ghent University Hospital, Ghent, Belgium
Arnaud Vanlander
Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium
Berten Ceulemans
Children’s Hospital at Westmead, Sydney Children’s Hospitals Network, Sydney, Australia
Kenneth Nunn & Shekeeb S. Mohammad
Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Stéphanie Arpin & Martine Raynaud
Genetic Center, Akron Children’s Hospital, Akron, OH, USA
Constance S. Motter & Catherine Ward-Melver
Center of Medical Genetics, University Hospital Antwerp/University of Antwerp, Edegem, Belgium
Katrien Janssens & Marije Meuwissen
Department of Pediatric Neurology, University Hospital Antwerp/University of Antwerp, Edegem, Belgium
Diane Beysen
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
Nicola Dikow
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
Mona Grimmel & Tobias B. Haack
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
Emma Clement
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
Amy McTague
Department of Neurology, Great Ormond Street Hospital, London, UK
Amy McTague
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
David Hunt
Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia
Sharron Townshend & Michelle Ward
Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, MI, USA
Linda J. Richards
The University of Queensland, Queensland Brain Institute, St Lucia, QLD, Australia
Linda J. Richards
Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Australia
Cas Simons
Garvan Institute of Medical Research, UNSW, Sydney, NSW, Australia
Cas Simons
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
Gregory Costain, Lucie Dupuis & Roberto Mendoza-Londono
Genetics of Learning Disability Service, Newcastle, NSW, Australia
Tracy Dudding-Byth, Jackie Boyle & Michael Field
University of Newcastle Grow Up Well Priority Research Centre, Newcastle, NSW, Australia
Tracy Dudding-Byth
Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital and Clinics, MI, Kansas City, USA
Carol Saunders
Kansas City School of Medicine, University of Missouri, Kansas City, MI, USA
Carol Saunders
Division of Clinical Genetics, Children’s Mercy Hospital and Clinics, Kansas City, MI, USA
Emily Fleming
Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France
Salima El Chehadeh
Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d’Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France
Salima El Chehadeh
Service de Pédiatrie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
Marie-Aude Spitz & Marie-Thérèse Abi Warde
Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France
Amelie Piton & Bénédicte Gerard
Pediatric Neurology Department, CHU de Strasbourg, Strasbourg, France
Marie-Thérèse Abi Warde
Northern Ireland Regional Genetics Service, Belfast, Northern Ireland
Gillian Rea & Caoimhe McKenna
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Sofia Douzgou
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Sofia Douzgou & Siddharth Banka
Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester, UK
Siddharth Banka
Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, USA
Cigdem Akman, Jennifer M. Bain & Tristan T. Sands
Texas Tech Health Sciences Center Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA
Golder N. Wilson
Texas Sports Psychiatry and Integrative Health, Austin, TX, USA
Erin J. Silvertooth
Hillcrest Internal Medicine, Waco, TX, USA
Lauren Miller
Centre de Génétique Humaine, Institut de Pathologie et de Génétique ASBL, Gosselies, Belgium
Damien Lederer, Olivier Monestier & Deniz Karadurmus
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, Sydney, NSW, Australia
Felicity Collins
Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
Melissa Carter
Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA
Luis Rohena
Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, TX, USA
Luis Rohena
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Marjolein H. Willemsen, Charlotte W. Ockeloen & Rolph Pfundt
Pluryn, Residential Care Setting, Groesbeek, The Netherlands
Sanne D. Kroft
Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal
Francisco E. R. Laranjeira
Unit for Multidisciplinary Research in Biomedicine, School of Medicine and Biomedical Sciences, Porto University, Porto, Portugal
Ana M. Fortuna & Ana R. Soares
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France
Vincent Michaud & Sophie Naudion
INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, Univ., Bordeaux, France
Vincent Michaud
Child Neurology and Neurodevelopmental Medicine Thompson Autism Center, CHOC Hospital, Orange County, CA, USA
Sailaja Golla
Indiana University School of Medicine, Indianapolis, USA
David D. Weaver
University of California, San Diego, Rady Children’s Hospital San Diego, San Diego, CA, USA
Lynne M. Bird & Jennifer Friedman
North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, London, UK
Virginia Clowes
Imperial College London, London, UK
Virginia Clowes
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK
Shelagh Joss
Centrum Medische Genetica, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium
Laura Pölsler
CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada
Philippe M. Campeau
Division Clinical Genetics Texas A&M University Health Science Center, College Station, TX, USA
Maria Blazo
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Emilia K. Bijlsma
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Jill A. Rosenfeld
Baylor Genetics Laboratories, Houston, TX, USA
Jill A. Rosenfeld
Centogene GmbH, Rostock, Germany
Christian Beetz
Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA
Zöe Powis
GeneDx LLC, Gaithersburg, MA, USA
Kirsty McWalter, Tracy Brandt & Erin Torti
Neuropediatric Unit, CHU UCL-Namur, Namur, Belgium
Mikaël Mathot
Children’s Hospital at Westmead, Sydney Children’s Hospitals Network, Sydney, NSW, Australia
Shekeeb S. Mohammad
East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Cambridge, UK
Ruth Armstrong
CF, MHN, AM, MN, BC, CB, FSA, AC, MOH, HS, SW, AV, BC, SR, KN, SA, MR., CSM, CW-M, KJ, MM, DB, ND, MG, TBH, EC, AMc, DH, ST, MW, LJR, CS, GC, LD, RM-L, TD-B, JB, CS, EF, SEC, M-AS, AP, BG, M-TAW, GR, CM, SD, SB, CA, JMB, TTS, GNW, EJS, LM, DL, RS, RM, OM, FC, MC, LR, MHW, CWO, RP, SDK, MF, FERL, AMF, ARS, VM, SN, SG, DDW, LMB, JF, VC, SJ, LP, PMC, MB, EKB, JAR, CB, ZP, KMcW, TB, ET, MMa, SSM, and RA were responsible for compilation of genetic and clinical information and critical review and approval of manuscript. AP, VS, JG, AH, LS, and DK, were responsible for performing experimental work and data analysis, and approval of manuscript. EP, MP, and VMK were responsible for conceiving the idea of the study, performing experimental work and or data analysis, drafting and finalizing, and approval of the manuscript.
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