Genetics

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.

Phenotypic subtyping and re-analysis of existing methylation data from autistic probands in simplex families reveal ASD subtype-associated differentially methylated genes and biological functions.

Phenotypic subtyping and re-analyses of existing transcriptomic data from autistic probands in simplex families reveal differentially expressed and ASD trait-associated genes.

Neurogenetic disorders across the lifespan: From aberrant development to degeneration.

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.

Patient brain organoids identify a link between the 16p11.2 copy number variant and the RBFOX1 gene.

Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.

Sentinel interaction mapping — a generic approach for the functional analysis of human disease gene variants using yeast.

Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy.