The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …

Objective: A major motivation for seeking disease-associated genetic variation is to identify
novel risk processes. Although rare copy number variants (CNVs) appear to contribute to …

Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex
neurodevelopmental disorders that may share an underlying pathology suggested by …

Recent studies have established an important role for rare genomic deletions and
duplications in the etiology of schizophrenia. This research suggests that the genetic …

Chromosomal abnormalities, including microdeletions and microduplications, have long
been associated with abnormal developmental outcomes. Early discoveries relied on a …

The work conducted using genome-wide approaches during the past several years has
invigorated the field, and represents the dawn of molecular genetics of schizophrenia. The …

In the decade since Disrupted in Schizophrenia 1 (DISC1) was first identified it has become
one of the most convincing risk genes for major mental illness. As a multi-functional scaffold …

Anorexia nervosa (AN) is a mental illness with high mortality that most commonly afflicts
adolescent female individuals. Clinical symptoms include chronic food refusal, weight loss …

The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic
membrane, responsible for the clustering and localization of glycine and GABA receptors at …

Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental
disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor …