Genetics

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

Genetic evidence for elevated pathogenicity of mitochondrial DNA heteroplasmy in autism spectrum disorder.

Histone acetylome-wide association study of autism spectrum disorder.

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

De novo genic mutations among a Chinese autism spectrum disorder cohort.

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder.

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