Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P. MacKenzie, Sarah B. Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler

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807 Scopus citations

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Medicine & Life Sciences