Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

Background Genetic influences on gene expression in the human fetal brain plausibly
impact upon a variety of postnatal brain-related traits, including susceptibility to …

Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-
relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
significant and complex genetic etiology. GWAS studies have identified genetic variants …

Genome-wide association studies have identified 108 schizophrenia risk loci, but biological
mechanisms for individual loci are largely unknown. Using developmental, genetic and …

Abstract Background 22q11. 2 copy number variants are among the most highly penetrant
genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia …

The development and function of our brain are governed by a genetic blueprint, which
reflects dynamic changes over the history of evolution. Recent progress in genetics and …

A large portion of common variant loci associated with genetic risk for schizophrenia reside
within noncoding sequence of unknown function. Here, we demonstrate promoter and …

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …

The brain has long been known to display the most complex pattern of alternative splicing,
thereby producing diverse protein isoforms compared to other tissues. Recent evidence …