Genetics

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.

Denovo-db: A compendium of human de novo variants.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Reverse pathway genetic approach identifies epistasis in autism spectrum disorders.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Exaggerated CpH methylation in the autism-affected brain.

Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism.

Diverse non-genetic, allele-specific expression effects shape genetic architecture at the cellular level in the mammalian brain.

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