Shin-ya Nishio

Sensorineural hearing loss and mild cardiac phenotype caused by an mutation.

Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes.

Frequency and clinical features of hearing loss caused by STRC deletions.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of -Associated Hearing Loss.

Mutational Spectrum and Clinical Features of Patients with Variants Identified in an 8074 Hearing Loss Patient Cohort.

The Prevalence and Clinical Characteristics of -Associated Autosomal Dominant Hearing Loss.

Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort.

Cochlear Implantation From the Perspective of Genetic Background.

Haplotype Analysis of Mutations: Founder Effect or Mutational Hot Spot?

Genetic testing has the potential to impact hearing preservation following cochlear implantation.

Clinical Characteristics and In Vitro Analysis of Variants Causing Late-Onset Progressive Hearing Loss.

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.

Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing.

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable).

Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.

A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan.

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Milestones toward cochlear gene therapy for patients with hereditary hearing loss.

Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Genetic background in late-onset sensorineural hearing loss patients.

Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children.

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.

Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases.

Speech perception in noise in patients with idiopathic sudden hearing loss.

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

Estimated number and prevalence of patients with delayed endolymphatic hydrops in Japan: a nationwide survey.

Sound localization in patients with idiopathic sudden hearing loss.

The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation.

Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in (mcEDS-).

Determining optimal cochlear implant electrode array with OTOPLAN.

Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue.

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns.

Detailed Clinical Features of -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.

Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.

Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.

Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23.

Clinical practice guidelines for the diagnosis and management of acute sensorineural hearing loss.