Simons Simplex Collection

Comparing autism phenotypes in children born extremely preterm and born at term.

HAT: De novo variant calling for highly accurate short-read and long-read sequencing data.

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.

Using developmental regression to reorganize the clinical importance of autistic atypicalities.

A subphenotype-to-genotype approach reveals disproportionate megalencephaly autism risk genes.

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

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.

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