Global developmental delay and intellectual disability are relatively common pediatric
conditions. This report describes the recommended clinical genetics diagnostic approach …

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 …

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …

Epigenetic regulation of gene expression is a dynamic and reversible process that
establishes normal cellular phenotypes but also contributes to human diseases. At the …

Prior to the genome-wide association era, candidate gene studies were a major approach in
schizophrenia genetics. In this invited review, we consider the current status of 25 historical …

We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify
expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human …

Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …

Although distinct human induced pluripotent stem cell (hiPSC) lines can display
considerable epigenetic variation, it has been unclear whether such variability impacts their …