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