Genetics

Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts.

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

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.

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