Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

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 …

INTRODUCTION A reference atlas of human cell types is a major goal for the field. Here, we
set out to generate single-cell atlases of both gene expression (this study) and chromatin …

Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for
the evaluation of developmental delay and structural malformations in children. We aimed to …

Background The causes of intellectual disability remain largely unknown because of
extensive clinical and genetic heterogeneity. Methods We evaluated patients with …

Maternal obesity during pregnancy has been associated with increased risk of
neurodevelopmental disorders, including autism spectrum disorder (ASD), in offspring …

Autism spectrum disorder (autism) is a neurodevelopmental delay that affects at least 1 in 44
children. Like many neurological disorder phenotypes, the diagnostic features are …

The autism spectrum disorders are a collective of conditions that have in common impaired
socialization and communication in association with stereotypic behaviors. The reported …