… Despite adoption of whole exome sequencing (WES) for detection of sequence variants in
… A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants …

… However, except for its growing use as first-tier test in critically ill infants of … as a first-tier
test in these patients. Here we report the results of GENE Project (Genomic analysis Evaluation …

… of ill newborns with suspected genetic disease to evaluate the … Our prospective evaluation
however shows that, in addition … reduced costs related to genetic testing. A likely explanation …

… disorders varied between different studies, the performance of the gene panel was
comparable with that of whole exome sequencing, which had an overall sensitivity of 88% and …

… tool for children suffering from … potential of WES in diagnosing neonatal GDs remains
underexplored. In our study, WES was conducted on 121 infants in the NICU at Tianjin Children's …

… manner compared to whole exome sequencing. Although … first-level genetic test for
molecular diagnosis in patients with a … In neonates and infants with critically ill conditions, CES, …

… for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, …
the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of …

… In France, six diseases are subject to newborn screening through … Newborns with positive
screening results benefit from a … -exonic sequence variants not detectable with whole-exome …

… of rapid DNA sequencing technology in severely ill children in … This study sought to evaluate
the outcome of Thai children … the deployment of rapid whole exome sequencing (rWES) in …

… whole exome sequencing (WES) as a first-tier test instead of chromosomal microarray (CMA)
for genetic diagnosis… recruited 101 children with a confirmed clinical diagnosis of idiopathic …