Genetics

Benchmarking of local genetic correlation estimation methods using summary statistics from genome-wide association studies

Three generation families: Analysis of de novo variants in autism.

Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.

Structural and functional brain alterations revealed by neuroimaging in CNV carriers.

Dissecting autism and schizophrenia through neuroimaging genomics.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes.

Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

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.

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