Simons Simplex Collection

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Clinical correlates of diagnostic certainty in children and youths with autistic disorder.

Sex differences and parent-teacher discrepancies in reports of autism traits: Evidence for camouflaging in a school setting.

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.

Phenotypic and ancestry-related assortative mating in autism.

Machine learning prediction of autism spectrum disorder from a minimal set of medical and background information.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Chromosome X-wide common variant association study in autism spectrum disorder.

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