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

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

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 …

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

Purpose This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …

Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently
become apparent, with many hundreds of de novo variants identified through widely …

Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of
TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by …

Background Current medical practice includes the application of genomic sequencing (GS)
in clinical and research settings. Despite expanded use of this technology, the process of …