Youeun Song

TL;DR: It is shown, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects.

TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.

TL;DR: Further evidence is identified supporting recent findings regarding the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and an overlap of rare CNVs in TS and autism spectrum disorders is identified.

TL;DR: The penetrance of the BP1‐BP2 deletion and duplication CNVs for ASD was low, and stepwise regression analyses suggest a greater effect of the CNVs on ASD‐related phenotype in males and when maternally inherited, consistent with BP1-BP2 CNVs as risk factors for autism.

TL;DR: Several regions of the genome exhibited substantial excess of shared haplotypes for affected individuals, including 3p21, 3p12, 4q28, and 5q23-q31, and two regions showed significant linkage by traditional LOD score analysis and could harbor variants of more sizeable risk for psychosis or a multiplicity of risk variants.