Genetics

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

Measuring shared variants in cohorts of discordant siblings with applications to autism.

SV2: Accurate structural variation genotyping and de novo mutation detection from whole genomes.

CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing.

De novo indels within introns contribute to ASD incidence.

Mapping 22q11.2 gene dosage effects on brain morphometry.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

Indel variant analysis of short-read sequencing data with Scalpel.

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