Genetics

A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.

Gene discoveries in autism are biased towards comorbidity with intellectual disability.

A structural variation reference for medical and population genetics.

Insufficient evidence for “autism-specific” genes.

Clinical impact of splicing in neurodevelopmental disorders.

VariCarta: A comprehensive database of harmonized genomic variants found in autism spectrum disorder sequencing studies.

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

Large mosaic copy number variations confer autism risk.

Co-localization between sequence constraint and epigenomic information improves interpretation of whole-genome sequencing data.

Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex.

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