Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Absence seizures in children and teenagers are generally considered relatively benign
because of their non-convulsive nature and the large incidence of remittance in early …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Parvalbumin inhibitory interneurons (PVIs) are crucial for maintaining proper
excitatory/inhibitory balance and high-frequency neuronal synchronization. Their activity …

The discovery of genetic variation and the assembly of genome sequences are both
inextricably linked to advances in DNA-sequencing technology. Short-read massively …

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …

Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …

To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …

The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …

INTRODUCTION Most studies of human genetic variation have focused on single-nucleotide
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …