More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …

Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

We report genomic analysis of 300 meningiomas, the most common primary brain tumors,
leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly …

To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

The size and extent of folding of the mammalian cerebral cortex are important factors that
influence a species' cognitive abilities and sensorimotor skills. Studies in various animal …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Neural circuit function can be drastically affected by variations in the number of cells that are
produced during development or by a reduction in adult cell number owing to disease. For …

Fatty liver accumulation results from an imbalance between lipid deposition and removal,
driven by the hepatic synthesis of triglycerides and de novo lipogenesis. The habitual diet …