Simons Simplex Collection

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.

Adaptive behavior profiles of intellectually gifted children with autism spectrum disorder.

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

How rare and common risk variation jointly affect liability for autism spectrum disorder.

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