Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

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 …

Summary The second Newborn Sequencing in Genomic Medicine and Public Health
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …

Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and
pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic …

The primary objective of population-based newborn screening is the early identification of
asymptomatic infants with a range of severe diseases, for which effective treatment is …