Simons Simplex Collection

GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder.

Relationship between childhood obesity and autism spectrum disorder varies by child’s age and parents’ weight status in a sample of sibling dyads.

GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.

A cross-disorder dosage sensitivity map of the human genome.

Tauopathy in the young autistic brain: Novel biomarker and therapeutic target.

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

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