Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Research Articles
Talking about death or suicide: Prevalence and clinical correlates in youth with autism spectrum disorder in the psychiatric inpatient setting.
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.
Prenatal fever and autism risk.
Behavior and sensory interests questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability.
SV2: Accurate structural variation genotyping and de novo mutation detection from whole genomes.
MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.
CHD8 mutation leads to autistic-like behaviors and impaired striatal circuits.
Pathogenic variants that alter protein code often disrupt splicing.
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