Genetics

Genetic aspects of autism spectrum disorders: Insights from animal models.

Disruptive CHD8 mutations define a subtype of autism early in development.

Paired-duplication signatures mark cryptic inversions and other complex structural variation.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Increased female autosomal burden of rare copy number variants in human populations and in autism families.

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Low load for disruptive mutations in autism genes and their biased transmission.

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.

Excess of rare, inherited truncating mutations in autism.

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