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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

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Science  21 Dec 2012:
Vol. 338, Issue 6114, pp. 1619-1622
DOI: 10.1126/science.1227764

Article Information

vol. 338 no. 6114 1619-1622

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History: 
  • Received for publication July 23, 2012
  • Accepted for publication November 1, 2012

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Author Information

  1. Brian J. O’Roak1,
  2. Laura Vives1,
  3. Wenqing Fu1,
  4. Jarrett D. Egertson1,
  5. Ian B. Stanaway1,
  6. Ian G. Phelps2,3,
  7. Gemma Carvill2,3,
  8. Akash Kumar1,
  9. Choli Lee1,
  10. Katy Ankenman4,
  11. Jeff Munson4,
  12. Joseph B. Hiatt1,
  13. Emily H. Turner1,
  14. Roie Levy1,
  15. Diana R. O’Day2,
  16. Niklas Krumm1,
  17. Bradley P. Coe1,
  18. Beth K. Martin1,
  19. Elhanan Borenstein1,5,6,
  20. Deborah A. Nickerson1,
  21. Heather C. Mefford2,3,
  22. Dan Doherty2,3,
  23. Joshua M. Akey1,
  24. Raphael Bernier4,
  25. Evan E. Eichler1,7,*,
  26. Jay Shendure1,*
  1. 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  2. 2Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.
  3. 3Seattle Children’s Hospital, Seattle, WA 98105, USA.
  4. 4Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
  5. 5Department of Computer Science and Engineering, University of Washington, Seattle, WA 98195, USA.
  6. 6Santa Fe Institute, Santa Fe, NM 87501, USA.
  7. 7Howard Hughes Medical Institute, Seattle, WA 98195, USA.
  1. *To whom correspondence should be addressed. E-mail: shendure{at}uw.edu (J.S.); eee{at}gs.washington.edu (E.E.E.)

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