Nenad Sestan

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: The generation and analysis of exon-level transcriptome and associated genotyping data, representing males and females of different ethnicities, from multiple brain regions and neocortical areas of developing and adult post-mortem human brains, finds that 86 per cent of the genes analysed were expressed, and that 90 per cent were differentially regulated at the whole-transcript or exon level acrossbrain regions and/or time.

TL;DR: An anatomically comprehensive atlas of the mid-gestational human brain is described, including de novo reference atlases, in situ hybridization, ultra-high-resolution magnetic resonance imaging (MRI) and microarray analysis on highly discrete laser-microdissected brain regions.

TL;DR: Findings support the association of rare SLITRK1 sequence variants with TS by identifying a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189.

TL;DR: A microarray technology that can be used to analyze the expression of microRNAs and of other small RNAs is described, suggesting that micro RNAs play important roles in the development of the mammalian brain.