Genetics

Molecular subtyping and improved treatment of neurodevelopmental disease.

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

The genetics-driven revival in neuropsychiatric drug development.

Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features.

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.

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