Simons Simplex Collection

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.

Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder.

Memo1-mediated tiling of radial glial cells facilitates cerebral cortical development.

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.

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