Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-
genome sequencing (rWGS) can diagnose genetic disorders in time to change acute …

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group …

The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …

By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …

Purpose: To undertake the first prospective cost-effectiveness study of whole-exome
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …

Purpose The purpose of the study was to implement and prospectively evaluate the
outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods …

Purpose To investigate the impact of rapid-turnaround exome sequencing in critically ill
neonates using phenotype-based subject selection criteria. Methods Intensive care unit …

Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …