Author information:
(1)Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, 
University of Maryland, Baltimore, MD 21201, USA.
(2)Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 
85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular 
Medicine and Program in Genetics, University of Arizona College of Medicine - 
Phoenix, Phoenix, AZ 85004, USA.
(3)Department of Neuromuscular Disorders, Institute of Neurology, University 
College London, Queen Square, WC1N 3BG London, UK.
(4)Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, 
Technical University of Munich, 81675 Munich, Germany; Institute of 
Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
(5)CSIRO Health and Biosecurity, The Australian e-Health Research Centre, 
Brisbane, QLD 4029, Australia.
(6)Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological 
Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; University of 
Arizona College of Medicine, Phoenix, AZ 85004, USA; Mayo Clinic, Scottsdale, AZ 
85259, USA.
(7)Neurology Department, The Children's Hospital at Westmead, Westmead, NSW 
2145, Australia.
(8)Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW 
2050, Australia.
(9)Center for Applied Genomics, Children's Hospital of Philadelphia, 
Philadelphia, PA, USA.
(10)Department of Computer Science, City University of Hong Kong, Kowloon 
999077, Hong Kong.
(11)Center for Applied Genomics, Children's Hospital of Philadelphia, 
Philadelphia, PA 19104, USA; Center for Data Driven Discovery in Biomedicine, 
Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
(12)Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, 
Baltimore, MD 21205, USA.
(13)Center for Autism and Related Disorders, Kennedy Krieger Institute, 
Baltimore, MD 21211, USA.
(14)Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 
02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 
02115, USA.
(15)University of Massachusetts Medical School - Baystate, Baystate Children's 
Hospital, Springfield, MA 01107, USA.
(16)Department of Neurology and Developmental Medicine, Kennedy Krieger 
Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins 
University School of Medicine, Baltimore, MD 21287, USA.
(17)Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, 
Technical University of Munich, 81675 Munich, Germany.
(18)Centre of Child and Adolescent Medicine, Department of Pediatric Neurology 
and Metabolic Medicine, Heidelberg University Hospital, 69120 Heidelberg, 
Germany.
(19)Department of Child Neurology and Metabolic Medicine, Center for Pediatric 
and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 
430, 69120 Heidelberg, Germany.
(20)Department of Neurology and Developmental Medicine, Kennedy Krieger 
Institute, Baltimore, MD 21205, USA.
(21)Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, 
NY 11211, USA.
(22)Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem 
9054020, Israel.
(23)Department of Child Neurology, Justus-Liebig-University Giessen, 35392 
Giessen, Germany.
(24)Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160001, 
Kazakhstan.
(25)Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, EX1 2ED 
Exeter, UK.
(26)Clinical Pharmacology, William Harvey Research Institute, Charterhouse 
Square, School of Medicine and Dentistry Queen Mary University of London, London 
EC1M 6BQ, UK.
(27)Penn State Health Children's Hospital, Hershey, PA 17033, USA.
(28)Department of Clinical Neurosciences, John Van Geest Cambridge Centre for 
Brain Repair, University of Cambridge School of Clinical Medicine, CB2 0PY 
Cambridge, UK.
(29)Inonu University, Faculty of Medicine, Turgut Ozal Research Center, 
Department of Paediatric Neurology, 44280 Malatya, Turkey.
(30)Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 
35340 Izmir, Turkey; Department of Pediatric Neurology, Faculty of Medicine, 
Dokuz Eylul University, 35340 Izmir, Turkey.
(31)Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 
35340 Izmir, Turkey; Department of Medical Biology, Faculty of Medicine, Dokuz 
Eylul University, 35220 Izmir, Turkey.
(32)Children's Hospital of Eastern Ontario Research Institute; Division of 
Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind 
Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
(33)Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, 
Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione 
Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
(34)Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
(35)Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; 
Department of Precision Medicine, University of Campania "Luigi Vanvitelli," 
80138 Naples, Italy.
(36)Department of Neuropediatrics, Jena University Hospital, 07747 Jena, 
Germany.
(37)Institute of Medical Genetics and Applied Genomics, University of Tübingen, 
72076 Tuebingen, Germany.
(38)Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, 
Germany.
(39)Department of Paediatric and Adolescent Medicine, St Joseph Hospital, 12101 
Berlin, Germany.
(40)University Children's Hospital Oldenburg, Department of Neuropaediatric and 
Metabolic Diseases, 26133 Oldenburg, Germany.
(41)Human Genetics, Faculty of Medicine and Health Sciences, University of 
Oldenburg, 26129 Oldenburg, Germany; Junior Research Group, Genetics of 
Childhood Brain Malformations, Faculty VI-School of Medicine and Health 
Sciences, University of Oldenburg, 26129 Oldenburg, Germany.
(42)Human Genetics, Faculty of Medicine and Health Sciences, University of 
Oldenburg, 26129 Oldenburg, Germany; Research Center Neurosensory Science, 
University of Oldenburg, 26129 Oldenburg, Germany.
(43)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino 
Gesù, IRCCS, 00146 Rome, Italy.
(44)GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
(45)Unit of Child Neuropsichiatry, Department of Clinical and Surgical 
Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa 16147, Italy.
(46)Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 
3168, Australia.
(47)Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina 
Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, 
Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 
Genoa, Italy.
(48)Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, 
Maternal and Child Health, University of Genoa, 16142 Genoa, Italy; Unit of 
Medical Genetics, IRRCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
(49)Departments of Pediatrics and Medicine, Columbia University, New York, NY 
10032, USA.
(50)Department of Neurology, Cook Children's Medical Center, Fort Worth, TX 
76104, USA; Department of Pediatrics, University of North Texas Health Science 
Center, Fort Worth, TX 76107, USA.
(51)Robinson Research Institute, Faculty of Health and Medical Sciences, 
University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, 
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 
5000, Australia.
(52)Robinson Research Institute, Faculty of Health and Medical Sciences, 
University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, 
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 
5000, Australia; South Australian Health and Medical Research Institute, 
Adelaide, SA 5000, Australia.
(53)Brain and Mitochondrial Research Group, Murdoch Children's Research 
Institute, Melbourne Department of Paediatrics, University of Melbourne, 
Melbourne, VIC 3052, Australia; Discipline of Child and Adolescent Health, 
University of Sydney, Sydney, NSW 2006, Australia.
(54)Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; 
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, 
USA.
(55)Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, 
University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and 
Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 
21201, USA.
(56)Ophthalmic Genetics and Visual Function Branch, National Eye Institute, 
National Institutes of Health, Bethesda, MD 20892, USA.
(57)Department of Paediatrics, Monash University, Melbourne, VIC 3168, 
Australia.
(58)Institute of Biochemistry, Friedrich-Alexander-Universität 
Erlangen-Nürnberg, 91054 Erlangen, Germany.
(59)Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing 
Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
(60)Department of Genetics, Washington University School of Medicine, St. Louis, 
MO 63110, USA.
(61)Institute of Medical Genetics and Applied Genomics, University of Tübingen, 
72076 Tuebingen, Germany; Centre for Rare Diseases, University of Tübingen, 
72074 Tuebingen, Germany.
(62)Department of Paediatrics, Adolescent Medicine and Neonatology, Munich 
Clinic, Schwabing Hospital and Technical University of Munich, School of 
Medicine, 80804 Munich, Germany.
(63)Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, 
University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and 
Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 
21201, USA. Electronic address: sriazuddin@som.umaryland.edu.
(64)Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 
85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular 
Medicine and Program in Genetics, University of Arizona College of Medicine - 
Phoenix, Phoenix, AZ 85004, USA. Electronic address: kruerm@arizona.edu.