Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing

Authors

Jinbo Xu

Published

November 25, 2024

Abstract

Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID.