Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD)
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …

A comprehensive review of the body of genetic studies on schizophrenia seems even more
daunting than the battle a psychiatrist wages daily in the office with her archenemy of a …

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

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

We sought to obtain novel insights into schizophrenia pathogenesis by exploiting the
association between the disorder and chromosomal copy number (CNV) burden. We …

Causal genes and variants within genome-wide association study (GWAS) loci can be
identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and …

Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic
movement disorder defined by involuntary twisting postures. Although frequently transmitted …

Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically
heterogeneous, and a significant number of genes have been associated with both …

SETD1A, a lysine-methyltransferase, is a key schizophrenia susceptibility gene. Mice
carrying a heterozygous loss-of-function mutation of the orthologous gene exhibit alterations …