Technological advances and decreasing costs of genomic sequencing have paved the way
for the increased incorporation of genomics into newborn screening (NBS). Genomic …

A definitive, authoritative approach to evaluate the causes of unexpected, and ultimately
unexplained, pediatric deaths remains elusive, relegating final conclusions to diagnoses of …

Aims RASopathies are caused by mutations in genes that alter the MAP kinase pathway and
are marked by several malformations with cardiovascular disorders as the predominant …

Background/Objectives: Next-generation sequencing (NGS) can explain how genetics
influence morbidity and mortality in children. However, it is unclear whether health providers …

The aim of this study was to describe the turnaround time, diagnostic yield, and clinical
impact of rapid whole-genomic sequencing (rWGS). We conducted a prospective …

Genetic disorders and congenital anomalies are the leading causes of infant mortality in the
United States; however, vital statistics do not accurately capture them. 1 The death of a child …

Abstract In the United States, thousands of neonates die shortly after birth each year. Many
of these deaths are suspected to have genetic causes, yet clinical settings rarely use genetic …

As Doenças Genéticas representam um desafio significativo para a saúde em todo o
mundo, incluindo o Brasil. A maioria dessas doenças também podem ser classificadas …