Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the
ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare …

Exome sequencing (ES) became clinically available in 2011 and promised an agnostic,
unbiased next-generation sequencing (NGS) platform for patients with symptoms believed to …

Inherited metabolic disorders (IMD) encompass alterations of one or several biochemical
pathways with biochemical, clinical and/or pathophysiological features that have a defined …

Next generation sequencing (NGS)-based tests have become routine first-line investigative
modalities in paediatric neurology clinics in many high-income countries (HICs). Studies …

Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges
due to overlapping symptoms and variable expressivity, despite evolving genomic insights …

Clinical utility of genetic testing has rapidly increased in the past decade to identify the
definitive diagnosis, etiology, and specific management. The majority of patients receiving …

The “diagnostic odyssey” describes the process those with undiagnosed conditions undergo
to identify a diagnosis. Throughout this process, families of children with undiagnosed …