Genetic diseases disrupt the functionality of an infant's genome during fetal–neonatal
adaptation and represent a leading cause of neonatal and infant mortality in the United …

The current available literature evaluating pediatric multidisciplinary aerodigestive programs
for the management of aerodigestive disorders in infants was reviewed. Multidisciplinary …

Genomic sequencing is a powerful diagnostic tool in critically ill infants, but performing
exome or genome sequencing (ES/GS) in the context of a research study is different from …

Objective To evaluate genetic evaluation practices in newborns with the most common birth
defect, congenital heart defects (CHD), we determined the prevalence and the yield of …

Purpose To describe variation in genomic medicine services across level IV neonatal
intensive care units (NICUs) in the United States and Canada. Methods We developed and …

Purpose This study aimed to examine variation in genetic testing between neonatal
intensive care units (NICUs) across hospitals over time. Methods We performed a …

The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the
neonatal intensive care unit has made it possible to impact clinical decision-making …

Objective To delineate the diagnostic efficacy of medical exome, whole exome, and whole
genome sequencing according to primary symptoms, the contribution of small copy number …

Importance A growing number of children are conceived with assisted reproductive
technology (ART). However, there is a lack of studies systematically analyzing the genetic …

Purpose Genetic disorders often present in the neonatal intensive care unit (NICU), and
detecting or confirming these diagnoses has been shown to impact care. However, the …