Genetics

Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.

Frequency and complexity of de novo structural mutation in autism.

Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly.

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.

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