Genetics

Using whole-exome sequencing to identify inherited causes of autism.

De novo mutations in histone-modifying genes in congenital heart disease.

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.

The autism sequencing consortium: Large-scale, high-throughput sequencing in autism spectrum disorders.

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

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.

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