Jeffrey D. Mandell

TL;DR: It is found that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology, and significant overlap of de noovo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants betweenTD and autism spectrum disorder is identified.

TL;DR: Conditional Tbr1 deletion during late mouse gestation in cortical layer 6 neurons (Tbr1layer6 mutants) provides novel insights into its function, including dendritic patterning, synaptogenesis, and cell-intrinsic physiology, and several putative TBR1 targets are ASD risk genes.

TL;DR: Assessing 51,801 regulatory classes, no category is significantly associated with ASD after correction for multiple testing, and no category of variation has impact equivalent to loss-of-function mutations.

TL;DR: It is demonstrated that the origination of variants driving melanomas and lung cancers is predominantly attributable to the preventable, exogenous mutational processes associated with ultraviolet light and tobacco exposure, respectively, whereas the Origination of selected variants in gliomas and prostate adenocarcinomas is largely attributable to endogenous processesassociated with aging.

TL;DR: Recurrent de novo damaging variants and the TADA algorithm are leveraged and one high confidence (false discovery rate (FDR) variant is identified) is identified with TS risk.