Both genome sequencing (GS) and exome sequencing (ES) have proven to be
revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and …

Genetic disorders are one of the leading causes of infant mortality and are frequent in
neonatal intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole …

Genetic and genomic technologies can effectively diagnose numerous genetic disorders.
Patients benefit when genetic counselling accompanies genetic testing and international …

Genome‐wide sequencing (GWS) is increasingly being used in neonatal intensive care
units. While studies have explored its clinical utility, little is known about parental …

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however
exome sequencing does not deliver clinical-grade mitochondrial genome sequencing and …

Purpose With advances in genome sequencing technologies, large-scale genome-wide
sequencing has advanced our understanding of disease risk and etiology and contributes to …

Background Congenital myopathies are a group of heterogeneous inherited disorders,
mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of …

Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients
in neonatal intensive care units (NICUs). Complex etiologies and atypical clinical signs …

Background: In clinical practice, a large proportion of patients with multiple congenital
anomalies and/or intellectual disabilities (MCA/ID) lacks a specific diagnosis. Recently, next …