We discuss new approaches to the early detection of keratoconus and recent investigations
regarding the nature of its pathophysiology. We review the current evidence for its complex …

Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone‐
shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It …

Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

The architectural design of our kidneys is amazingly complex, and culminates in the 3D
structure of the glomerular filter. During filtration, plasma passes through a sieve consisting …

Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in
patients with heterogeneous genetic disorders, especially in those with neurocognitive …

Recent developments in high‐throughput sequence capture methods and next‐generation
sequencing technologies have now made exome sequencing a viable approach to …

With increased speed and decreased costs, next-generation gene sequencing has the
potential to improve medical care by making possible widespread evaluation of patients' …

Objective Familial aggregation of fibromyalgia has been increasingly recognized. The goal
of this study was to conduct a genome‐wide linkage scan to identify susceptibility loci for …

The rapidly decreasing cost of whole-genome sequencing (WGS) and its ability to
simultaneously analyze all human genes make it an attractive technique for genetic …

An ongoing challenge in children presenting with motor delay/impairment early in life is to
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …