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- March 31, 2017.
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- Version 1 (September 8, 2016 - 20:05).
- Version 2 (September 9, 2016 - 06:05).
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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
Author Information
- Beryl B Cummings1,2,3,
- Jamie L Marshall1,2,
- Taru Tukiainen1,2,
- Monkol Lek1,2,4,5,
- Sandra Donkervoort6,
- A. Reghan Foley6,
- Veronique Bolduc6,
- Leigh Waddell4,5,
- Sarah Sandaradura4,5,
- Gina O’Grady4,5,
- Elicia Estrella7,
- Hemakumar M Reddy8,
- Fengmei Zhao1,2,
- Ben Weisburd1,2,
- Konrad J Karczewski1,2,
- Anne H O’Donnell-Luria1,2,
- Daniel Birnbaum1,2,
- Anna Sarkozy9,
- Ying Hu6,
- Hernan Gonorazky10,
- Kristl Claeys11,
- Himanshu Joshi4,5,
- Adam Bournazos4,5,
- Emily C. Oates4,5,
- Roula Ghaoui4,5,
- Mark Davis12,
- Nigel Laing12,13,
- Ana Topf14,
- GTEx Consortium,
- Peter B Kang7,8,
- Alan H Beggs7,
- Kathryn N North15,
- Volker Straub13,
- James Dowling9,
- Francesco Muntoni8,
- Nigel F Clarke4,5,
- Sandra T Cooper4,5,
- Carsten G Bonnemann6 and
- Daniel G MacArthur1,2,*
- 1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
- 2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
- 3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
- 4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
- 5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
- 6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
- 7Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
- 8Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
- 9Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London WC1N 1EH, UK.
- 10Division of Neurology, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
- 11Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven 3000, Belgium.
- 12Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth WA 6009, Australia.
- 13Harry Perkins Institute of Medical Research, University of Western Australia, Perth WA 6009, Australia.
- 14The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom.
- 15Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville VIC 3052, Australia
- ↵*Correspondence: danmac{at}broadinstitute.org