Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …

Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous
set of disorders, for which diagnostic second-generation sequencing (next-generation …

Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The
hearing loss can be partly compensated by providing patients with hearing aids or cochlear …

Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an
autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes …

From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …

Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and
most of these splicing alterations have been identified by transcript analysis, for instance, the …

Background Combined retinal degeneration and sensorineural hearing impairment is mostly
due to autosomal recessive Usher syndrome (USH 1: congenital deafness, early retinitis …

Purpose: To develop and validate VisCap, a software program targeted to clinical
laboratories for inference and visualization of germ-line copy-number variants (CNVs) from …

Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing
deafness and blindness. The objectives of this study were to determine the mutation …