Simons Simplex Collection

Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes.

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.

RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects.

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.