Genetics

Preprocessing and quality control strategies for Illumina DASL assay-based brain gene expression studies with semi-degraded samples.

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

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.