Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

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

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

Abstract The Greater Middle East (GME) has been a central hub of human migration and
population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf …

An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …

Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the
molecular findings in characterized and novel disease genes in patients with epilepsy …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Background Genetic disorders and congenital anomalies are the leading causes of infant
mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units …