The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Deviations from Hardy-Weinberg equilibrium (HWE) can indicate inbreeding, population
stratification, and even problems in genotyping. In samples of affected individuals, these …

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Cultured human embryonic stem cell (hESC) lines are an invaluable resource because they
provide a uniform and stable genetic system for functional analyses and therapeutic …

Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has
largely eluded efforts to identify specific genetic variants underlying its etiology. We …

We developed a general method, microarray-based genomic selection (MGS), capable of
selecting and enriching targeted sequences from complex eukaryotic genomes without the …

The identification of common variants that contribute to the genesis of human inherited
disorders remains a significant challenge. Hirschsprung disease (HSCR) is a multifactorial, non-…

The genetic dissection of complex traits may ultimately require a large number of SNPs to
be genotyped in multiple individuals who exhibit phenotypic variation in a trait of interest. …

Recent research has uncovered an important role for de novo variation in neurodevelopmental
disorders. Using aggregated data from 9,246 families with autism spectrum disorder, …

Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn’s disease (CD). However, as with all complex diseases, robust identification of the …