Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Next‐generation sequencing (NGS) technologies have greatly impacted on every field of
molecular research mainly because they reduce costs and increase throughput of DNA …

Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …

A nonsense mutation adds a premature stop signal that hinders any further translation of a
protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions …

Context: Pheochromocytomas and paragangliomas are notable for a high frequency of
inherited cases, many of which present as apparently sporadic tumors. Objective: The …

NGS applications will soon be the first-tier test for skeletal muscle disorders. They will
improve the diagnosis in myopathic patients, promoting their inclusion into novel therapeutic …

Genetic analysis of von Willebrand disease by von Willebrand factor gene sequencing has
not yet become routine practice. Nevertheless, the prospects for molecular diagnosis have …

Next generation sequencing (NGS) technologies offer the possibility to map entire genomes
at affordable costs. This brings the genetic testing procedure to a higher level of complexity …

The aim of this study was to implement the massively parallel sequencing technology for
diagnostic applications. We evaluated an amplicon-based method for the analysis of the …

Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized
by visual and hearing impairments. Clinically, it is subdivided into three subclasses with nine …