Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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Science Translational Medicine  19 Apr 2017:
Vol. 9, Issue 386, eaal5209
DOI: 10.1126/scitranslmed.aal5209

Article Information

vol. 9 no. 386

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  • Received for publication January 9, 2017
  • Accepted for publication March 29, 2017

Author Information

  1. Beryl B. Cummings1,2,3,
  2. Jamie L. Marshall1,2,
  3. Taru Tukiainen1,2,
  4. Monkol Lek1,2,4,5,
  5. Sandra Donkervoort6,
  6. A. Reghan Foley6,
  7. Veronique Bolduc6,
  8. Leigh B. Waddell4,5,
  9. Sarah A. Sandaradura4,5,
  10. Gina L. O’Grady4,5,
  11. Elicia Estrella7,
  12. Hemakumar M. Reddy8,
  13. Fengmei Zhao1,2,
  14. Ben Weisburd1,2,
  15. Konrad J. Karczewski1,2,
  16. Anne H. O’Donnell-Luria1,2,
  17. Daniel Birnbaum1,2,
  18. Anna Sarkozy9,
  19. Ying Hu6,
  20. Hernan Gonorazky10,
  21. Kristl Claeys11,
  22. Himanshu Joshi5,
  23. Adam Bournazos4,5,
  24. Emily C. Oates4,5,
  25. Roula Ghaoui4,5,
  26. Mark R. Davis12,
  27. Nigel G. Laing12,13,
  28. Ana Topf14,
  29. Genotype-Tissue Expression Consortium,
  30. Peter B. Kang7,8,
  31. Alan H. Beggs7,
  32. Kathryn N. North15,
  33. Volker Straub14,
  34. James J. Dowling10,
  35. Francesco Muntoni9,
  36. Nigel F. Clarke4,5,*,
  37. Sandra T. Cooper4,5,
  38. Carsten G. Bönnemann6 and
  39. Daniel G. MacArthur1,2,
  1. 1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  2. 2Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  3. 3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
  4. 4School of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales 2006, Australia.
  5. 5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney, New South Wales 2145, Australia.
  6. 6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  7. 7Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
  8. 8Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  9. 9Dubowitz Neuromuscular Centre, University College London Institute of Child Health, London WC1N 1EH, U.K.
  10. 10Division of Neurology, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  11. 11Department of Neurology, University Hospitals Leuven and University of Leuven (Katholieke Universiteit Leuven), Leuven 3000, Belgium.
  12. 12Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia 6009, Australia.
  13. 13Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Western Australia 6009, Australia.
  14. 14John Walton Muscular Dystrophy Research Centre, MRC (Medical Research Council) Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, U.K.
  15. 15Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, Melbourne, Victoria 3052, Australia.
  1. Corresponding author. Email: danmac{at}


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