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- February 15, 2021.
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Author Information
- Marjolein J.A. Weerts, PhD1,*,
- Kristina Lanko, PhD1,*,
- Francisco J. Guzmán-Vega, M.Sc2,
- Adam Jackson, MB ChB3,4,
- Reshmi Ramakrishnan, PhD2,
- Kelly J. Cardona-Londoño, M.Sc.2,
- Karla A. Peña-Guerra, B.S.2,
- Yolande van Bever, MD1,
- Barbara W. van Paassen, MD1,
- Anneke Kievit, MD, PhD1,
- Marjon van Slegtenhorst, PhD1,
- Nicholas M. Allen, MB.BCh, MDRes5,
- Caroline M. Kehoe, MB., BCh.5,
- Hannah K. Robinson, PhD6,
- Lewis Pang, MSc6,
- Selina H. Banu, MBBS, DCH, PhD7,
- Mashaya Zaman, MBBS7,
- Stephanie Efthymiou, MSc8,
- Henry Houlden, MD, PhD8,
- Irma Järvelä, MD9,
- Leena Lauronen, MD10,
- Tuomo Määttä, MD11,
- Isabelle Schrauwen, PhD12,
- Suzanne M Leal, PhD12,
- Claudia A.L Ruivenkamp, PhD13,
- Daniela Q.C.M. Barge-Schaapveld, MD, PhD13,
- Cacha M.P.C.D. Peeters-Scholte, MD, PhD14,
- Hamid Galehdari, PhD15,
- Neda Mazaheri, PhD15,
- Sanjay M Sisodiya, PhD FRCP16,
- Victoria Harrison, MB ChB17,
- Angela Sun, MD18,
- Jenny Thies, CGC19,
- Luis Alberto Pedroza, PhD20,
- Yana Lara-Taranchenko, MD21,
- Ivan K. Chinn, MD22,23,
- James R. Lupski, MD24,25,26, PhD,
- Alexandra Garza-Flores, MD27,
- Jefferey McGlothlin, MD27,
- Lin Yang, MD28,
- Shaoping Huang, MD28,
- Xiaodong Wang, PhD29,
- Tamison Jewett, MD30,
- Gretchen Rosso, MS, CGC30,
- Xi Lin, MD31,
- Shehla Mohammed, MD, FRCP32,
- J. Lawrence Merritt II, MD18,
- Ghayda M. Mirzaa, MD18,33,34,
- Andrew E. Timms, PhD35,
- Joshua Scheck, B.S.33,
- Mariet Elting, MD, PhD36,
- Abeltje M. Polstra, PhD36,
- Lauren Schenck, MS, CGC37,
- Maura R.Z. Ruzhnikov, MD37,38,
- Annalisa Vetro, PhD39,
- Martino Montomoli, MD39,
- Renzo Guerrini, MD, FRCP39,
- Daniel C. Koboldt, MS40,
- Theresa Mihalic Mosher, MS40,
- Matthew T. Pastore, MS40,
- Kim L. McBride, MD MS40,
- Jing Peng, MD41,
- Zou Pan, MD41,
- Marjolein Willemsen, MD, PhD42,
- Susanne Koning, MD43,
- Peter D. Turnpenny, MB ChB44,
- Bert B.A. de Vries, MD, PhD42,
- Christian Gilissen, PhD42,
- Rolph Pfundt, PhD42,
- Melissa Lees, MD45,
- Stephen R. Braddock, MD46,
- Kara C. Klemp, MS, CGC46,
- Fleur Vansenne, MD, PhD47,
- Marielle van Gijn, PhD47,
- Catherine Quindipan, M.S., CGC48,
- Matthew A. Deardorff, MD, PhD48,49,
- J. Austin Hamm, MD, FACMG50,
- Abbey M. Putnam, MS, CGC50,
- Rebecca Baud, MS, CGC51,
- Laurence Walsh, MD51,52,
- Sally A. Lynch, MD53,
- Julia Baptista, PhD DipRCPath6,54,
- Richard E. Person, PhD, FACMG55,
- Kristin G. Monaghan, PhD, FACMG55,
- Amy Crunk, MS, CGC55,
- Jennifer Keller-Ramey, PhD, FACMG55,
- Adi Reich, PhD55,
- Houda Zghal Elloumi, PhD, FACMG55,
- Marielle Alders, PhD56,
- Jennifer Kerkhof, MS57,
- Haley McConkey, MSc57,
- Sadegheh Haghshenas, PhD57,58,
- Genomics England Research Consortium59,
- Reza Maroofian, PhD8,
- Bekim Sadikovic, PhD57,
- Siddharth Banka, MBBS, PhD3,4,
- Stefan T. Arold, PhD2,60 and
- Tahsin Stefan Barakat, PhD, MD1,#
- 1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 2King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, 23955-6900, Saudi Arabia
- 3Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, M13 9WL. U.K.
- 4Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester
- 5Department of Paediatrics, National University of Ireland Galway
- 6Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Barrack Rd, Exeter, UK
- 7Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, 1216, Bangladesh
- 8Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
- 9Department of Medical Genetics, University of Helsinki, Helsinki, Finland
- 10Department of Clinical Neurophysiology, New Childreńs Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland
- 11Disability Services, Joint Authority for Kainuu, Kajaani, Finland
- 12Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer’s Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY
- 13Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
- 14Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
- 15Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
- 16Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG and Chalfont Centre for Epilepsy, Bucks, SL9 0RJ, UK
- 17Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton
- 18University of Washington School of Medicine, Department of Pediatrics, Division of Genetic Medicine, Seattle, Washington, USA
- 19Department of Pediatrics, Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA
- 20Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA
- 21Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, 170901, Ecuador
- 22Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, USA
- 23Center for Human Immunobiology of Texas Children’s Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
- 24Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
- 25Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
- 26Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston TX, USA
- 27Cook Children’s Neurosciences, Cook Children’s Physician Network, Cook Children’s Hospital, Fort Worth TX 76104
- 28Department of Pediatrics, The Second Affiliated Hospital of Xi ’an Jiaotong University, Xi’an, China
- 29Cipher Gene Ltd. Beijing, China
- 30Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine
- 31Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China
- 32Clinical Genetics, Guy’s and St Thomas NHS Foundation Trust
- 33Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA
- 34Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, US
- 35Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Seattle, WA 98101, USA
- 36Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
- 37Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, California, 94305
- 38Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, 94305
- 39Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children’s Hospital - University of Florence, Florence, Italy
- 40Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, Ohio. 43205 USA
- 41Xiangya Hospital of Central South University, Changsha, China
- 42Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands
- 43Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
- 44Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
- 45NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK
- 46Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children’s Hospital, Saint Louis University School of Medicine
- 47Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands
- 48Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, CA
- 49Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA
- 50East Tennessee Children’s Hospital Genetics Center, Knoxville, Tennessee
- 51Indiana University School of Medicine Department of Medical and Molecular Genetics, Indianapolis, Indiana, United States
- 52Department of Neurology, University School of Medicine and Riley Hospital for Children, Indianapolis, Indiana, United States
- 53Department of Clinical Genetics, Children’s Health Ireland at Temple St. Children’s Hospital and Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland
- 54Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom
- 55GeneDx, Gaithersburg, MD, 20877, USA
- 56Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- 57Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada
- 58Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada
- 59Genomics England, London EC1M 6BQ, UK
- 60Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France
- ↵#corresponding author; t.barakat{at}erasmusmc.nl