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- September 9, 2016.
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Author Information
- Beryl B Cummings1,2,3,
- Jamie L Marshall1,2,
- Taru Tukiainen1,2,
- Monkol Lek1,2,4,5,
- Sandra Donkervoort6,
- Reghan A. Foley6,
- Veronique Bolduc6,
- Leigh Waddell4,5,
- Sarah Sandaradura4,5,
- Gina O'Grady4,5,
- Elicia Estrella7,
- Hemakumar M Reddy7,
- Fengmei Zhao1,2,
- Ben Weisburd1,2,
- Konrad J Karczewski1,2,
- Anne O’Donnell-Luria1,2,
- Daniel Birnbaum1,2,
- Anna Sarkozy8,
- Ying Hu6,
- Hernan Gonorazky9,
- Kristl Claeys10,
- Himanshu Joshi4,5,
- Adam Bournazos4,5,
- Emily Oates4,5,
- Roula Ghaoui4,5,
- Mark Davis11,
- Nigel Laing11,12,
- Ana Topf13,
- GTEx Consortium,
- Peter Kang7,
- Alan Beggs14,
- 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.
- 2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
- 3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA
- 4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
- 5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
- 6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, Maryland, USA
- 7Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
- 8Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
- 9Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
- 10Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium
- 11Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Australia
- 12Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
- 13The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
- 14Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA
- 15Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Australia
- Correspondence: danmac{at}broadinstitute.org