Simons Simplex Collection

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.

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

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

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.

Relationship between social motivation in children with autism spectrum disorder and their parents.

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