Simons Simplex Collection

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.

Diagnostic classification and prognostic prediction using common genetic variants in autism spectrum disorder: Genotype-based deep learning.

CNVxplorer: A web tool to assist clinical interpretation of CNVs in rare disease patients.

Autism spectrum disorders classification using genotype data: A deep learning-based predictive classifier.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Tissue-specific enhancer functional networks for associating distal regulatory regions to disease.

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