Shin-ya Nishio

Department of Hearing Implant Sciences, Shinshu University School of Medicine

Affiliated withShinshu University School of Medicine

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 1	2024

Other Publications

Article	Year
Sensorineural hearing loss and mild cardiac phenotype caused by an mutation. Human genome variation\| PubMed ID: 30155266	2018
Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss. Clinical case reports\| PubMed ID: 30455902	2018
Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes. Acta oto-laryngologica\| PubMed ID: 30702034	2018
Frequency and clinical features of hearing loss caused by STRC deletions. Scientific reports\| PubMed ID: 30867468	2019
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one\| PubMed ID: 31095577	2019
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports\| PubMed ID: 31427586	2019
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. International journal of molecular sciences\| PubMed ID: 31527509	2019
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of -Associated Hearing Loss. Genes\| PubMed ID: 31527525	2019
Mutational Spectrum and Clinical Features of Patients with Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes\| PubMed ID: 31547530	2019
The Prevalence and Clinical Characteristics of -Associated Autosomal Dominant Hearing Loss. Genes\| PubMed ID: 31554319	2019
Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort. Acta oto-laryngologica\| PubMed ID: 31738639	2020
Cochlear Implantation From the Perspective of Genetic Background. Anatomical record (Hoboken, N.J. : 2007)\| PubMed ID: 32027099	2020
Haplotype Analysis of Mutations: Founder Effect or Mutational Hot Spot? Genes\| PubMed ID: 32120898	2020
Genetic testing has the potential to impact hearing preservation following cochlear implantation. Acta oto-laryngologica\| PubMed ID: 32134349	2020
Clinical Characteristics and In Vitro Analysis of Variants Causing Late-Onset Progressive Hearing Loss. Genes\| PubMed ID: 32143290	2020
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nature communications\| PubMed ID: 32165640	2020
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss. Scientific reports\| PubMed ID: 32341388	2020
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Human genetics\| PubMed ID: 32382995	2020
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. Medicine\| PubMed ID: 32384426	2020
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing. Acta oto-laryngologica\| PubMed ID: 32498646	2020
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up. Auris, nasus, larynx\| PubMed ID: 32980210	2022
Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan. Human genome variation\| PubMed ID: 33014404	2020
Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan. Human genome variation\| PubMed ID: 33133630	2020
Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable). Acta oto-laryngologica\| PubMed ID: 33320029	2021
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. Genetic testing and molecular biomarkers\| PubMed ID: 33372830	2021
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology\| PubMed ID: 33859130	2021
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. Human genetics\| PubMed ID: 34232383	2022
A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan. Acta oto-laryngologica\| PubMed ID: 34452594	2021
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. Human genetics\| PubMed ID: 34523024	2022
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics\| PubMed ID: 34536124	2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. Human genetics\| PubMed ID: 34599366	2022
Milestones toward cochlear gene therapy for patients with hereditary hearing loss. Laryngoscope investigative otolaryngology\| PubMed ID: 34693000	2021
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics\| PubMed ID: 34727261	2022
Genetic background in late-onset sensorineural hearing loss patients. Journal of human genetics\| PubMed ID: 34824372	2022
Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children. Acta oto-laryngologica\| PubMed ID: 34825622	2021
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. Human genetics\| PubMed ID: 35020051	2022
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Scientific reports\| PubMed ID: 35022556	2022
Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases. Acta oto-laryngologica\| PubMed ID: 35481391	2022
Speech perception in noise in patients with idiopathic sudden hearing loss. Acta oto-laryngologica\| PubMed ID: 35621147	2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system. American journal of medical genetics. Part A\| PubMed ID: 36189931	2023
Estimated number and prevalence of patients with delayed endolymphatic hydrops in Japan: a nationwide survey. Acta oto-laryngologica\| PubMed ID: 36519274	2022
Sound localization in patients with idiopathic sudden hearing loss. Acta oto-laryngologica\| PubMed ID: 36661486	2023
The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation. Acta oto-laryngologica\| PubMed ID: 37083037	2023
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in (mcEDS-). Genes\| PubMed ID: 37510254	2023
Determining optimal cochlear implant electrode array with OTOPLAN. Acta oto-laryngologica\| PubMed ID: 37737708	2023
Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue. International journal of molecular sciences\| PubMed ID: 38474154	2024
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. Scientific reports\| PubMed ID: 38594301	2024
Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns. International journal of epidemiology\| PubMed ID: 38609324	2024
Detailed Clinical Features of -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. Genes\| PubMed ID: 38674423	2024
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Scientific reports\| PubMed ID: 38720048	2024
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss. Genes\| PubMed ID: 38790200	2024
Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23. Stem cell research\| PubMed ID: 38878669	2024
Clinical practice guidelines for the diagnosis and management of acute sensorineural hearing loss. Auris, nasus, larynx\| PubMed ID: 38968877	2024
Prevalence and clinical features of hearing loss caused by EYA4 variants. Scientific reports\| PubMed ID: 32107406	2020
Prevalence and Clinical Characteristics of Hearing Loss Caused by Variants. Genes\| PubMed ID: 34681017	2021