Abstract

The past decade has witnessed the emergence of reliable and systematic gene discovery in ASDs. Over the past 5 years, dramatic progress has been made in identifying rare, large-effect mutations that contribute to approximately 20 percent of cases in the clinic. More recently, the first common alleles for ASD risk have also been identified, contributing very small individual effects but across a greater percentage of the population. These molecular clues offer a foothold into the pathophysiology of ASD and, consequently, offer a number of potential paths from the gene to therapeutics.

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