Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …

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 …

Population Genetics and Microevolutionary Theory Explore the fundamentals of the
biological implications of population genetic theory In the newly revised Second Edition of …

For next‐generation sequencing technologies, sufficient base‐pair coverage is the foremost
requirement for the reliable detection of genomic variants. We investigated whether whole …

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 …

Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or
without congenital sensorineural hearing impairment. We studied genotype–phenotype …

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 …

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 …

Objectives: To elucidate the molecular epidemiology of hearing loss in a large number of
Japanese patients analyzed using massively parallel DNA sequencing (MPS) of target …

Objectives: Hereditary hearing loss exhibits high degrees of genetic and clinical
heterogeneity. To elucidate the population-specific and age-related genetic and clinical …