Choli Lee

TL;DR: It is shown that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.

TL;DR: Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.

TL;DR: It is shown that candidate genes for Mendelian disorders can be identified by exome sequencing of a small number of unrelated, affected individuals, and may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact.

TL;DR: The results strongly suggest that mutations in MLL2, which encodes a Trithorax-group histone methyltransferase, are a major cause of Kabuki syndrome.

TL;DR: The modified molecular inversion probe method was applied to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder, supporting the notion that multiple genes underlie autism-spectrum disorders.