In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral
absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …

Advances in understanding the molecular basis of rare and common disorders, as well as in
the technology of DNA analysis, are rapidly changing the landscape of molecular genetic …

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …

In meiosis, homologous chromosome synapsis is mediated by a supramolecular protein
structure, the synaptonemal complex (SC), that assembles between homologous …

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Objectives Autoinflammatory disorders are disorders of the innate immune system. Standard
genetic testing provided no correct diagnosis in a female patient from a non …

Lead (Pb) exposure causes immeasurable damage to multiple human systems, particularly
the central nervous system (CNS). In this study, human induced pluripotent stem cells …

Objective The objective of this study was to identify new causes of Charcot–Marie–Tooth
(CMT) disease in patients with autosomal‐recessive (AR) CMT. Methods To efficiently …