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