Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

Psychiatric disorders are highly heritable, and in many individuals likely arise from the
combined effects of genes and the environment. A substantial body of evidence points …

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 …

Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …

Background—Human genomes harbor copy number variants (CNVs), which are regions of
DNA gains or losses. Although pathogenic CNVs are associated with congenital heart …

Significance: Schizophrenia (SZ) and bipolar disorder (BD) are classified as two distinct
diseases. However, accumulating evidence shows that both disorders share genetic …

After decades of halting progress, recent large genome-wide association studies (GWAS)
are finally shining light on the genetic architecture of schizophrenia. The picture emerging is …

Schizophrenia etiology is thought to involve an interaction between genetic and
environmental factors during postnatal brain development. However, there is a fundamental …

Abstract Deletions of 16p13. 11 have been associated with a variety of phenotypes, and
have also been found in normal individuals. We report on two unrelated patients with severe …

Abstract Chromosome 17p13. 3 is a gene rich region that when deleted is associated with
the well‐known Miller–Dieker syndrome. A recently described duplication syndrome …