Article
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Nature - 4 Apr 2012
O'Roak Brian J, Vives Laura, Girirajan Santhosh, Karakoc Emre, Krumm Niklas, Coe Bradley P, Levy Roie, Ko Arthur, Lee Choli, Smith Joshua D, Turner Emily H, Stanaway Ian B, Vernot Benjamin, Malig Maika, Baker Carl, Reilly Beau, Akey Joshua M, Borenstein Elhanan, Rieder Mark J, Nickerson Deborah A, Bernier Raphael, Shendure Jay, Eichler Evan E
Abstract excerpt
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions...
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