Genetics

A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.

Molecular cascades and cell-type specific signatures in ASD revealed by single cell genomics.

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.

High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways.

Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice.

Mapping and characterization of structural variation in 17,795 human genomes.

Identifying rare genetic variants in 21 highly multiplex autism families: The role of diagnosis and autistic traits.

HAT: De novo variant calling for highly accurate short-read and long-read sequencing data.

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.

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