List of works - Shin-Ya Nishio

A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.

scientific article

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

scientific article published on 21 March 2014

A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.

scientific article published on 3 April 2017

A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.

scientific article

Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.

scientific article

Advances in Molecular Genetics and the Molecular Biology of Deafness.

scientific article published on 20 July 2016

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

scientific article

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

scientific article

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

scientific article

Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord.

scientific article

Cochlear Implantation From the Perspective of Genetic Background

scientific article published on 06 February 2020

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

scientific article

Comprehensive analysis of syndromic hearing loss patients in Japan

scientific article published on 19 August 2019

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

scientific article

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

scientific article

Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss

scientific article published on 05 October 2016

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

scientific article published on 27 October 2020

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection

scientific article

Deafness gene expression patterns in the mouse cochlea found by microarray analysis

scientific article

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan

scientific article published on 18 March 2015

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

scientific article published on 16 September 2019

Detailed hearing and vestibular profiles in the patients with COCH mutations

scientific article published on 16 March 2015

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

scientific article published on 28 July 2016

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

scientific article published on 21 September 2018

Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis.

scientific article published on 10 April 2017

Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations

scientific article

Epidemiological survey of acute low-tone sensorineural hearing loss.

scientific article

Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review

scientific article published on May 2015

Etiology of single-sided deafness and asymmetrical hearing loss.

scientific article published on April 2017

Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection.

scientific article published on 2 December 2013

Factors that affect hearing level in individuals with the mitochondrial 1555A.G mutation.

scientific article published in May 2009

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

scientific article published on 01 December 2018

Frequency and clinical features of hearing loss caused by STRC deletions

scientific article published on 13 March 2019

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

scientific article published on 21 January 2016

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

scientific article (publication date: February 2014)

Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea.

scientific article

Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness

scientific article published on 26 March 2015

Genetic background in late-onset sensorineural hearing loss patients

scientific article published in 2021

Germinal mosaicism in a family with BO syndrome.

scientific article published on 16 March 2015

Hearing handicap in adults with unilateral deafness and bilateral hearing loss.

scientific article published on June 2013

Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries

scientific article

High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene

scientific article published in July 2014

Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan

scientific article published in April 2017

Importance of the leader region of mRNA for translation initiation of ColE2 Rep protein

scientific article published on 27 August 2007

Language development in Japanese children who receive cochlear implant and/or hearing aid.

scientific article published on 26 January 2012

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea

scientific article

Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.

scientific article published on 17 November 2016

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1

scientific article

Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics

scientific article published in May 2015

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

scientific article

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

scientific article published on 16 September 2019

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

scientific article published on 6 March 2014

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

scientific article published on 23 September 2019

Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.

scientific article published on 19 March 2015

Mutations in LOXHD1 gene cause various types and severities of hearing loss

scientific article

Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis

scientific article published on 19 March 2015

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

scientific article

Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan

scientific article published on 10 April 2017

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients

scientific article published on 16 March 2015

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness

scientific article

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

scientific article published on 27 April 2020

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

scientific article

Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.

scientific article published on 23 March 2015

Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.

scientific article published on 18 March 2015

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

scientific article

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

scientific article

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.

scientific article published on 24 February 2017

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

scientific article

Prevalence and clinical features of hearing loss caused by EYA4 variants

scientific article published on 27 February 2020

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

scientific article

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

scientific article published on 18 September 2020

Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.

scientific article published in April 2017

Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients

scientific article published on April 2017

Replication initiator protein mRNA of ColE2 plasmid and its antisense regulator RNA are under the control of different degradation pathways

scientific article published on 11 January 2008

SOD1 gene polymorphisms in sudden sensorineural hearing loss.

scientific article

Sensorineural hearing loss and mild cardiac phenotype caused by an mutation

scientific article published on 22 August 2018

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

scientific article published on 06 April 2018

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

scientific article

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

scientific article

Syntactic development in Japanese hearing-impaired children.

scientific article published in April 2012

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.

scientific article

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

scientific article

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

scientific article published on 23 December 2016

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

scientific article published on 24 September 2019

The advantages of sound localization and speech perception of bilateral electric acoustic stimulation

scientific article

The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan

scientific article published on 24 March 2017

The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan.

scientific article published on 31 March 2017

The effects of RNA degradation enzymes on antisense RNAI controlling ColE2 plasmid copy number.

scientific article published on 29 August 2008

The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports

journal article; published in Acta Oto-Laryngologica in 2016

The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.

scientific article published on 13 March 2015

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

scientific article published in 2023

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

scientific article published on April 2008

Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice.

scientific article published on 14 December 2013

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

scientific article published on 12 March 2018

List of works by Shin-Ya Nishio

A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.

A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.

Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.

Advances in Molecular Genetics and the Molecular Biology of Deafness.

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord.

Cochlear Implantation From the Perspective of Genetic Background

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Comprehensive analysis of syndromic hearing loss patients in Japan

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss

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

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection

Deafness gene expression patterns in the mouse cochlea found by microarray analysis

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan

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

Detailed hearing and vestibular profiles in the patients with COCH mutations

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

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

Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis.

Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations

Epidemiological survey of acute low-tone sensorineural hearing loss.

Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review

Etiology of single-sided deafness and asymmetrical hearing loss.

Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection.

Factors that affect hearing level in individuals with the mitochondrial 1555A.G mutation.

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

Frequency and clinical features of hearing loss caused by STRC deletions

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea.

Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness

Genetic background in late-onset sensorineural hearing loss patients

Germinal mosaicism in a family with BO syndrome.

Hearing handicap in adults with unilateral deafness and bilateral hearing loss.

Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries

High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene

Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan

Importance of the leader region of mRNA for translation initiation of ColE2 Rep protein

Language development in Japanese children who receive cochlear implant and/or hearing aid.

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea

Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1

Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

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

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.

Mutations in LOXHD1 gene cause various types and severities of hearing loss

Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness

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

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.

Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.

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

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Prevalence and clinical features of hearing loss caused by EYA4 variants

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

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

Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.

Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients

Replication initiator protein mRNA of ColE2 plasmid and its antisense regulator RNA are under the control of different degradation pathways

SOD1 gene polymorphisms in sudden sensorineural hearing loss.

Sensorineural hearing loss and mild cardiac phenotype caused by an mutation

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.