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

Human genetics, 2022-04, Vol.141 (3-4), p.665-681

2022

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

Scientific reports, 2022-01, Vol.12 (1), p.634-7, Article 634

2022

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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, 2022-04, Vol.141 (3-4), p.903-914

2022

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

Human genetics, 2022-04, Vol.141 (3-4), p.929-937

2022

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

Scientific reports, 2024-05, Vol.14 (1), p.10596-10596, Article 10596

2024

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Cochlear Implantation From the Perspective of Genetic Background

Anatomical record (Hoboken, N.J. : 2007), 2020-03, Vol.303 (3), p.563-593

2020

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Genetic background in late-onset sensorineural hearing loss patients

Journal of human genetics, 2022-04, Vol.67 (4), p.223-230

2022

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

PloS one, 2013-08, Vol.8 (8), p.e71381-e71381

2013

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

Human genetics, 2022-04, Vol.141 (3-4), p.363-382

2022

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

Human mutation, 2017-03, Vol.38 (3), p.252-259

2017

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

PloS one, 2013-10, Vol.8 (10), p.e75793-e75793

2013

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Nature communications, 2020-03, Vol.11 (1), p.1343-1343, Article 1343

2020

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Vestibular Preservation After Cochlear Implantation Using the Round Window Approach

Frontiers in neurology, 2021-04, Vol.12, p.656592-656592

2021

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Prevalence and clinical features of hearing loss caused by EYA4 variants

Scientific reports, 2020-02, Vol.10 (1), p.3662-3662, Article 3662

2020

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Frequency and clinical features of hearing loss caused by STRC deletions

Scientific reports, 2019-03, Vol.9 (1), p.4408, Article 4408

2019

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

EMBO molecular medicine, 2016-11, Vol.8 (11), p.1310-1324

2016

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Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations

Auris, nasus, larynx, 2020-12, Vol.47 (6), p.958-964

2020

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

PloS one, 2012-08, Vol.7 (8), p.e40366-e40366

2012

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Milestones toward cochlear gene therapy for patients with hereditary hearing loss

Laryngoscope investigative otolaryngology, 2021-10, Vol.6 (5), p.958-967

2021

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

Scientific reports, 2020-04, Vol.10 (1), p.7056-7056, Article 7056

2020

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Etiology of single-sided deafness and asymmetrical hearing loss

Acta oto-laryngologica, 2017-03, Vol.137 (sup565), p.S2-S7

2017

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

PloS one, 2019-05, Vol.14 (5), p.e0215932-e0215932

2019

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

Acta oto-laryngologica, 2020-01, Vol.140 (1), p.32-39

2020

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Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

PloS one, 2016-12, Vol.11 (12), p.e0166781-e0166781

2016

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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, 2024-03, Vol.25 (5), p.2907

2024

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

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

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

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

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

Cochlear Implantation From the Perspective of Genetic Background

Genetic background in late-onset sensorineural hearing loss patients

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

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

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

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

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Vestibular Preservation After Cochlear Implantation Using the Round Window Approach

Prevalence and clinical features of hearing loss caused by EYA4 variants

Frequency and clinical features of hearing loss caused by STRC deletions

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

Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations

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

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

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

Etiology of single-sided deafness and asymmetrical hearing loss

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

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

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

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

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