The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …
hearing loss, but there are a limited number of comprehensive etiological reports based on …
Current advances in gene therapies of genetic auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by an impaired transmission of sound from the cochlea to the brain. This …
characterized by an impaired transmission of sound from the cochlea to the brain. This …
[HTML][HTML] Genomic analyses of hair from Ludwig van Beethoven
Summary Ludwig van Beethoven (1770–1827) remains among the most influential and
popular classical music composers. Health problems significantly impacted his career as a …
popular classical music composers. Health problems significantly impacted his career as a …
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …
140 genes. With few exceptions, however, the population-specific distribution for many of the …
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
R Cabanillas, M Diñeiro, GA Cifuentes, D Castillo… - BMC Medical …, 2018 - Springer
Background Sensorineural hearing loss (SNHL) is the most common sensory impairment.
Comprehensive next-generation sequencing (NGS) has become the standard for the …
Comprehensive next-generation sequencing (NGS) has become the standard for the …
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
C Zazo Seco, M Wesdorp, I Feenstra, R Pfundt… - European Journal of …, 2017 - nature.com
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …
and molecular diagnosis. Testing of several single HI-related genes is laborious and …
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss
MM Florentine, SL Rouse, J Stephans, D Conrad… - Human Genetics, 2022 - Springer
Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for
health equity. We sought to understand the extent and cause of racial and ethnic disparities …
health equity. We sought to understand the extent and cause of racial and ethnic disparities …
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous.
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
Congenital hearing impairment (HI) is the most common sensory impairment and can be
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …
[HTML][HTML] Defective Tmprss3-associated hair cell degeneration in inner ear organoids
Mutations in the gene encoding the type II transmembrane protease 3 (TMPRSS3) cause
human hearing loss, although the underlying mechanisms that result in TMPRSS3-related …
human hearing loss, although the underlying mechanisms that result in TMPRSS3-related …