Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …

Background Sensorineural hearing loss (SNHL) is the most common sensory impairment.
Comprehensive next-generation sequencing (NGS) has become the standard for the …

Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …

Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Abstract Adeno-associated virus (AAV)-mediated gene therapy has evolved from the bench
to the bedside, and is now considered the therapy of choice for certain inherited diseases …

Genetic factors, the most common etiology in severe to profound hearing loss, are one of the
key determinants of Cochlear Implantation (CI) and Electric Acoustic Stimulation (EAS) …