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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

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Science  04 Dec 2015:
Vol. 350, Issue 6265, pp. 1262-1266
DOI: 10.1126/science.aac9396

Article Information

vol. 350 no. 6265 1262-1266

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History: 
  • Received for publication July 1, 2015
  • Accepted for publication October 16, 2015
  • .

Author Information

  1. Jason Homsy1,2,*,
  2. Samir Zaidi3,*,
  3. Yufeng Shen4,*,
  4. James S. Ware1,5,6,*,
  5. Kaitlin E. Samocha1,7,
  6. Konrad J. Karczewski1,7,
  7. Steven R. DePalma1,8,
  8. David McKean1,
  9. Hiroko Wakimoto1,
  10. Josh Gorham1,
  11. Sheng Chih Jin3,
  12. John Deanfield9,
  13. Alessandro Giardini9,
  14. George A. Porter Jr.10,
  15. Richard Kim11,
  16. Kaya Bilguvar3,12,
  17. Francesc López-Giráldez12,
  18. Irina Tikhonova12,
  19. Shrikant Mane12,
  20. Angela Romano-Adesman13,
  21. Hongjian Qi4,14,
  22. Badri Vardarajan15,
  23. Lijiang Ma16,
  24. Mark Daly1,7,
  25. Amy E. Roberts17,
  26. Mark W. Russell18,
  27. Seema Mital19,
  28. Jane W. Newburger20,
  29. J. William Gaynor21,
  30. Roger E. Breitbart20,
  31. Ivan Iossifov22,
  32. Michael Ronemus22,
  33. Stephan J. Sanders23,
  34. Jonathan R. Kaltman24,
  35. Jonathan G. Seidman1,
  36. Martina Brueckner3,,
  37. Bruce D. Gelb25,,
  38. Elizabeth Goldmuntz26,27,,
  39. Richard P. Lifton3,28,,,
  40. Christine E. Seidman1,8,29,,,
  41. Wendy K. Chung30,,
  1. 1Department of Genetics, Harvard Medical School, Boston, MA, USA.
  2. 2Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
  3. 3Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  4. 4Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, USA.
  5. 5NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation and Trust and Imperial College London, London, UK.
  6. 6National Heart & Lung Institute, Imperial College London, London, UK.
  7. 7Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston MA, USA.
  8. 8Howard Hughes Medical Institute, Harvard University, Boston, MA, USA.
  9. 9Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK.
  10. 10Department of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, NY, USA.
  11. 11Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
  12. 12Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
  13. 13Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
  14. 14Department of Applied Physics and Applied Mathematics, Columbia University, New York, NY, USA.
  15. 15Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  16. 16Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  17. 17Department of Cardiology, Children's Hospital Boston, Boston, MA, USA.
  18. 18Division of Pediatric Cardiology, University of Michigan, Ann Arbor, MI, USA.
  19. 19Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  20. 20Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
  21. 21Department of Pediatric Cardiac Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  22. 22Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
  23. 23Department of Psychiatry, University of California San Francisco, San Francisco, CA, USA.
  24. 24Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, MD, USA.
  25. 25Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  26. 26Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  27. 27Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  28. 28Howard Hughes Medical Institute, Yale University, New Haven, CT, USA.
  29. 29Cardiovascular Division, Brigham & Women’s Hospital, Harvard University, Boston, MA, USA.
  30. 30Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
  1. Corresponding author. E-mail: bruce.gelb{at}mssm.edu (B.D.G.); goldmuntz{at}email.chop.edu (E.G.); martina.brueckner{at}yale.edu (M.B.); richard.lifton{at}yale.edu (R.P.L.); cseidman{at}genetics.med.harvard.edu (C.E.S.); wkc15{at}cumc.columbia.edu (W.K.C.)
  1. * These authors contributed equally to this work.

  2. These authors contributed equally to this work.

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