Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

Developments in genomics, including next-generation sequencing technologies, are expected
to enable a more personalized approach to clinical care, with improved risk stratification …

Background The transition from paediatric to adult care is associated with poor clinical
outcomes, increased costs and low patient and family satisfaction. However, little is known about …

Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders.
Although GS can enumerate most non-coding variation, determining which non-coding variants …

Purpose This study investigated the diagnostic utility of nontargeted genomic testing in
patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 …

Background: People with retinitis pigmentosa (RP) experience functional and psychological
challenges as they adjust to progressive loss of visual function. The authors aimed to …

Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies
for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic …

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities
of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7…