Jeffrey D. Mandell

TL;DR: It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation.

TL;DR: Analysis of de novo CNVs from the full Simons Simplex Collection replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci, including 6 CNV regions.

TL;DR: Analyses of 519 autism spectrum disorder families did not identify association with any categories after correction for 4,123 effective tests, and the work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.

TL;DR: On the basis of mutation rates in probands versus unaffected siblings, it is concluded that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD.

TL;DR: WES of 325 Tourette disorder trios and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics observe strong and consistent evidence for the contribution of de novo likely gene-disrupting variants.