Genetics

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism.

An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

Transmission disequilibrium of small CNVs in simplex autism.

Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders.

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.

Defining the contribution of CNTNAP2 to autism susceptibility.

A novel stratification method in linkage studies to address inter- and intra-family heterogeneity in autism.

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