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  • Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those that do are distributed across many genes and are incompletely penetrant, further supporting extreme genetic heterogeneity of this spectrum disorder.

    • Benjamin M. Neale
    • Yan Kou
    • Mark J. Daly
    Research
    Nature
    Volume: 485, P: 242-245