Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed
cytoplasmic myosin that participates in a variety of processes requiring the generation of …

An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …

Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …

Purpose: Implementation of novel genetic diagnostic tests is generally driven by
technological advances because they promise shorter turnaround times and/or higher …

Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …