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History
- October 10, 2019.
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
Author Information
- Elena Perenthaler1,
- Anita Nikoncuk1,*,
- Soheil Yousefi1,*,
- Woutje M. Berdowski1,*,
- Ivan Capo2,
- Herma C. van der Linde1,
- Paul van den Berg1,
- Edwin H. Jacobs1,
- Darija Putar1,
- Mehrnaz Ghazvini3,
- Eleonora Aronica4,5,
- Wilfred F.J. van IJcken6,
- Walter G. de Valk1,
- Evita Medici-van den Herik7,
- Marjon van Slegtenhorst1,
- Lauren Brick8,
- Mariya Kozenko8,
- Jennefer N. Kohler9,
- Jonathan A. Bernstein10,
- Kristin G. Monaghan11,
- Amber Begtrup11,
- Rebecca Torene11,
- Amna Al Futaisi12,
- Fathiya Al Murshedi13,
- Renjith Mani12,
- Faisal Al Azri14,
- Erik-Jan Kamsteeg15,
- Majid Mojarrad16,17,18,
- Atieh Eslahi16,19,
- Zaynab Khazaei20,
- Fateme Massinaei Darmiyan20,
- Mohammad Doosti21,
- Ehsan Ghayoor Karimiani22,
- Jana Vandrovcova23,
- Faisal Zafar24,
- Nuzhat Rana24,
- Krishna K. Kandaswamy25,
- Jozef Hertecant26,
- Peter Bauer25,
- Stephanie Efthymiou23,
- Henry Houlden23,
- Aida M. Bertoli-Avella25,
- Reza Maroofian23,
- Kyle Retterer11,
- Alice S. Brooks1,
- Tjakko J. van Ham1 and
- Tahsin Stefan Barakat1,#
- 1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 2Department for Histology and Embryology, Faculty of Medicine Novi Sad, University of Novi Sad, Serbia
- 3iPS cell core facility, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 4Amsterdam UMC, University of Amsterdam, Department of (Neuro)pathology, Amsterdam, Amsterdam Neuroscience, The Netherlands
- 5Stichting Epilepsie Instellingen Nederland (SEIN), The Netherlands
- 6Center for Biomics, Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 7Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 8Division of Genetics, McMaster Children’s Hospital, Hamilton, Ontario, L8S 4J9, Canada
- 9Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, 94035, USA
- 10Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94035, USA
- 11GeneDx, Gaithersburg, MD, 20877, USA
- 12Department of Child health, college of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman
- 13Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman
- 14Department of Radiology and molecular imaging, Sultan Qaboos University Hospital, Muscat, Oman
- 15Department of Clinical Genetics, Radboud University, Nijmegen, The Netherlands
- 16Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
- 17Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
- 18Genetic Center of Khorasan Razavi, Mashhad, Iran
- 19Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
- 20Genetic Counseling Center, Welfare Organization of Sistan and Baluchestan, Zahedan, Iran
- 21Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
- 22Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George’s, University, London, SW17 ORE, United Kingdom
- 23Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
- 24Department of Paediatric Neurology, Children’s hospital and institute of Child health, Multan 60000, Pakistan
- 25CENTOGENE AG, Rostock, Germany
- 26Department of Pediatrics, Tawam Hospital, and College of Medicine and Health Sciences, UAE University, Al-Ain, UAE
- ↵#corresponding Author: t.barakat{at}erasmusmc.nl
↵* equal contribution, shared second author