Simons Simplex Collection

De novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project.

Comparing fathers’ and mothers’ perspectives about their child’s autism spectrum disorder.

Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of genetic variants in vivo.

Cognitive profiles of children with autism spectrum disorder with parent-reported extraordinary talents and personal strengths.

Prevalence of returnable genetic results based on recognizable phenotypes among children with autism spectrum disorder.

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.

Sleep problems in children with ASD and gene disrupting mutations.

Bayonet-shaped language development in autism with regression: A retrospective study.

A normative model representing autistic individuals amidst autism spectrum disorders phenotypic heterogeneity.

A recurrent SHANK3 frameshift variant in autism spectrum disorder.

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