Research ArticleGenetic Medicine

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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Science Translational Medicine  14 Jan 2015:
Vol. 7, Issue 270, pp. 270ra6
DOI: 10.1126/scitranslmed.3010134

Article Information

vol. 7 no. 270 270ra6

PubMed: 
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History: 
  • Received for publication July 21, 2014
  • Accepted for publication November 25, 2014
  • .

Author Information

  1. Angharad M. Roberts1,2,*,
  2. James S. Ware2,3,4,5,*,
  3. Daniel S. Herman4,5,6,*,
  4. Sebastian Schafer7,
  5. John Baksi2,
  6. Alexander G. Bick4,5,
  7. Rachel J. Buchan2,
  8. Roddy Walsh2,
  9. Shibu John2,
  10. Samuel Wilkinson2,
  11. Francesco Mazzarotto2,3,
  12. Leanne E. Felkin2,3,
  13. Sungsam Gong2,
  14. Jacqueline A. L. MacArthur8,
  15. Fiona Cunningham8,
  16. Jason Flannick5,9,
  17. Stacey B. Gabriel5,
  18. David M. Altshuler5,10,
  19. Peter S. Macdonald11,12,13,
  20. Matthias Heinig7,
  21. Anne M. Keogh11,12,13,
  22. Christopher S. Hayward11,12,13,
  23. Nicholas R. Banner3,14,
  24. Dudley J. Pennell2,3,
  25. Declan P. O’Regan1,
  26. Tan Ru San15,
  27. Antonio de Marvao1,
  28. Timothy J. W. Dawes1,
  29. Ankur Gulati2,
  30. Emma J. Birks3,16,
  31. Magdi H. Yacoub3,
  32. Michael Radke17,
  33. Michael Gotthardt17,18,
  34. James G. Wilson19,
  35. Christopher J. O’Donnell20,21,
  36. Sanjay K. Prasad2,
  37. Paul J. R. Barton2,3,
  38. Diane Fatkin11,12,13,
  39. Norbert Hubner7,18,22,
  40. Jonathan G. Seidman4,
  41. Christine E. Seidman4,5,23,24,, and
  42. Stuart A. Cook1,3,15,25,,
  1. 1Clinical Sciences Centre, Medical Research Council (MRC), Imperial College London, London W12 0NN, UK.
  2. 2National Institute for Health Research (NIHR) Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield National Health Service (NHS) Foundation Trust and Imperial College London, London SW3 6NP, UK.
  3. 3National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK.
  4. 4Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
  5. 5Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
  6. 6Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
  7. 7Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine, 13125 Berlin, Germany.
  8. 8European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SD, UK.
  9. 9Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.
  10. 10Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  11. 11Cardiology Department, St Vincent’s Hospital, Darlinghurst, New South Wales 2010, Australia.
  12. 12Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales 2010, Australia.
  13. 13Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2052, Australia.
  14. 14Royal Brompton & Harefield NHS Foundation Trust, Harefield Hospital, Hill End Road, Harefield, Middlesex UB9 6JH, UK.
  15. 15National Heart Centre Singapore, Singapore 169609, Singapore.
  16. 16Department of Medicine, University of Louisville and Jewish Hospital, Louisville, KY 40202, USA.
  17. 17Neuromuscular and Cardiovascular Cell Biology, Max Delbrück Center for Molecular Medicine, 13092 Berlin, Germany.
  18. 18German Centre for Cardiovascular Research, 13347 Berlin, Germany.
  19. 19Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  20. 20National Heart, Lung, and Blood Institute’s Framingham Heart Study, Framingham, MA 01702, USA.
  21. 21Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.
  22. 22Charité-Universitätsmedizin, 10117 Berlin, Germany.
  23. 23Cardiovascular Division, Brigham and Women’s Hospital, Boston, MA 02115, USA.
  24. 24Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
  25. 25Duke–National University of Singapore, Singapore 169857, Singapore.
  1. Corresponding author. E-mail: stuart.cook{at}nhcs.com.sg (S.A.C.); cseidman{at}genetics.med.harvard.edu (C.E.S.)
    • * These authors contributed equally to this work.

    • These authors are co-senior authors.

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