Simons Simplex Collection

A critical review of the impact of candidate copy number variants on autism spectrum disorder.

Examining sociodemographic variability in the amount and type of interventions for children with autism.

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.

Human-specific gene expansions contribute to brain evolution.

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs.

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

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.

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