Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …

Introduction: With increasing utility and decreasing cost of genomic sequencing,
augmentation of standard newborn screening (NBS) programs with newborn genomic …

Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver
results means its application in time-sensitive screening programs such as newborn …

The Mendelian disorders of chromatin machinery (MDCMs) represent a distinct subgroup of
disorders that present with neurodevelopmental disability. The chromatin machinery …

As whole genome sequencing is being considered as a tool to deliver expanded newborn
screening (NBS) globally, the range of equivocal results it could produce are gaining …

Objective: The aim of this study was to explore the parental views, attitudes, and preferences
of expanded newborn screening (NBS) through genomic sequencing. Study Design: We …

Genomic sequencing offers an unprecedented opportunity to detect inherited variants that
are implicated in rare Mendelian disorders, yet there are many challenges to overcome …

Introduction The goal of newborn bloodspot screening (NBS) is the early detection of
treatable disorders in newborns to offer early intervention. Worldwide, the number of …

Advances in genomic technology have generated possibilities for expanding newborn
screening from traditional procedures to genomic newborn screening (gNBS). However …