Simons Simplex Collection

Developmental variability in autism across 17000 autistic individuals and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis.

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.

Opposite expression patterns of Spry3 and p75NTR in cerebellar vermis suggest a male-specific mechanism of autism pathogenesis.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

The female protective effect against autism spectrum disorder.

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.

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