Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …

Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …

Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …

The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …