Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

In the 1960s, Christian Anfinsen postulated that the unique three-dimensional structure of a
protein is determined by its amino acid sequence. This work laid the foundation for the …

Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …

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 …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Abstract The Biological General Repository for Interaction Datasets (BioGRID:
http://thebiogrid. org) is an open access database that houses genetic and protein …

The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …

Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …

Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However,
which of the myriad of detected AS events provide important biological functions is not well …

While alternative splicing is known to diversify the functional characteristics of some genes,
the extent to which protein isoforms globally contribute to functional complexity on a …