Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …

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

Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …

Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed …

Abstract Between 1% and 3% of persons in general population are estimated to have some
degree of intellectual disability. A diagnosis of intellectual disability is based on clinical …

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

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Developmental delays are common in childhood, occurring in 10%–15% of preschool
children. Global developmental delays are less common, occurring in 1%–3% of preschool …

The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …

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