The estimated incidence of sensorineural hearing impairment (> 40 dB HL) at birth is 1.86
per 1000 newborns in developed countries and 30–40% of these are unilateral. Profound …

Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive
medical evaluation to determine the underlying etiology and help guide treatment and …

Neurodevelopmental changes occur with asymmetric hearing loss, limiting binaural/spatial
hearing and putting children at risk for social and educational challenges. These deficits …

Objectives Genetic testing is the standard‐of‐care for diagnostic evaluation of bilateral,
symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a …

The outcome of cochlear implantation (CI) in patients with cochlear nerve deficiency (CND)
is variable, resulting in a wide range of speech perception performance, from degrees of …

Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused
by mutations in a plethora of deafness genes. Research over the past few decades has …

Recessive variants in GJB2 are the most important genetic cause of sensorineural hearing
impairment (SNHI) worldwide. Phenotypes vary significantly in GJB2-related SNHI, even in …

Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations.
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …

Methods: Among 728 probands of which genomic DNA went through exome sequencing
regardless of any specific audiologic phenotypes, probands for which exome sequencing …

Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing
impairment. However, in many patients, only one variant in the GJB2 coding region is …