Simons Simplex Collection

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of autism genes.

Data-driven dissection of the fever effect in autism spectrum disorder.

Autism spectrum disorders and brain volume link through a set of mTOR-related genes.

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Common functional variants of the glutamatergic system in autism spectrum disorder with high and low intellectual abilities.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

DNA methylation signature associated with Bohring-Opitz syndrome: A new tool for functional classification of variants in ASXL genes.

Mobile elements in human population-specific genome and phenotype divergence.

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

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