Branko Aleksic

TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).

TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

TL;DR: Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, 102 risk genes are identified at a false discovery rate of ≤ 0.1, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.

TL;DR: Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls, and genes carrying these PZM were enriched for expression in the amygdala.

TL;DR: An etiological overlap of ASD and SCZ is suggested and multiple disease-relevant genes in eight well-known ASD/SCZ-associated CNV loci are identified, which provide biological insights into these disorders.