Daniel P. Howrigan

TL;DR: In this article, the authors report results from the Bipolar exome (BipEx) collaboration analysis of whole exome sequencing of 13,933 individuals diagnosed with bipolar disorder (BD), matched with 14,422 controls, and find an excess of ultra-rare protein-truncating variants (PTVs) in BD patients among genes under strong evolutionary constraint, a signal evident in both major BD subtypes, bipolar 1 disorder and bipolar 2 disorder.

TL;DR: Responses to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’ and ‘Genetic pathways analysis and clinical practice’.

TL;DR: A heterogeneous effect of recurrent and non-recurrent microdeletions as part of the genetic architecture of GGE and a minor contribution in the aetiology of RE and AFE are shown.

TL;DR: Using aggregated data from 9246 families with autism spectrum disorder, intellectual disability, or developmental delay, it is shown ~1/3 of de novo variants are independently observed as standing variation in the Exome Aggregation Consortium’s cohort of 60,706 adults, and these de noVO variants do not contribute to neurodevelopmental risk.