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Current status and molecular biology of human papillomavirus‐independent gastric‐type adenocarcinoma of the cervix

The journal of obstetrics and gynaecology research, 2023-04, Vol.49 (4), p.1106-1113

Nishio, Shin

2023

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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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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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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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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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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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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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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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Clinical significance of primary debulking surgery and neoadjuvant chemotherapy-interval debulking surgery in advanced ovarian cancer

Japanese journal of clinical oncology, 2020-04, Vol.50 (4), p.379-386

2020

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

International journal of epidemiology, 2024-04, Vol.53 (3)

2024

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

Journal of human genetics, 2014-05, Vol.59 (5), p.262-268

2014

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

Otology & neurotology, 2016-02, Vol.37 (2), p.e126-e134

2016

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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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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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Sound localization in patients with idiopathic sudden hearing loss

Acta oto-laryngologica, 2023-01, Vol.143 (1), p.43-48

2023

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

Acta oto-laryngologica, 2020-07, Vol.140 (8), p.624-630

2020

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Current status and molecular biology of human papillomavirus‐independent gastric‐type adenocarcinoma of the cervix

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

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

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

Cochlear Implantation From the Perspective of Genetic Background

Genetic background in late-onset sensorineural hearing loss patients

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

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

Clinical significance of primary debulking surgery and neoadjuvant chemotherapy-interval debulking surgery in advanced ovarian cancer

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

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

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

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

Prevalence and clinical features of hearing loss caused by EYA4 variants

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

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

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

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

Frequency and clinical features of hearing loss caused by STRC deletions

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

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

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

Sound localization in patients with idiopathic sudden hearing loss

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

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