Simons Simplex Collection

Effect sizes of deletions and duplications on autism risk across the genome.

Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse neocortex.

Gamete simulation improves polygenic transmission disequilibrium analysis.

Exons as units of phenotypic impact for truncating mutations in autism.

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

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