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List of works by Shin-Ichi Usami

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

scientific article published on 21 March 2014

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

scientific article published on 07 May 2020

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

scientific article

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 nationwide study on enlargement of the vestibular aqueduct in Japan

scientific article published on 6 May 2016

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

scientific article published on 01 May 2020

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

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay

scientific article published in January 2007

Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

scientific article

Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI

scientific article published in PLoS ONE

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

scientific article

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss

scientific article published on 04 March 2020

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

scientific article

Cochlear Implantation From the Perspective of Genetic Background

scientific article published on 06 February 2020

Cochlear volume as a predictive factor for residual-hearing preservation after conventional cochlear implantation.

scientific article published on 17 November 2017

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

journal article; published in Acta Oto-Laryngologica Case Reports in 2017

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

Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms

scientific article published on 10 November 2020

Congenital hearing loss.

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

scientific article published in 2021

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

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

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 MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations

scientific article published on 11 June 2020

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

scientific article published in 2021

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

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

scientific article published on 15 December 2020

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

Discrimination of Japanese monosyllables in patients with high-frequency hearing loss

scientific article published on 19 November 2015

Effects of EAS cochlear implantation surgery on vestibular function

scientific article

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

scientific article published on 05 June 2020

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

Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis ⬇️

scientific article published on March 4, 2012

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

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

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

scientific article published on 05 March 2020

Germinal mosaicism in a family with BO syndrome.

scientific article published on 16 March 2015

Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

scientific article published on 27 February 2020

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

scientific article

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

Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature

scientific article published on January 2010

Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports

scientific article published on 5 March 2015

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

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

scientific article published on 28 December 2020

Inner hair cells of mice express the glutamine transporter SAT1 ⬇️

scientific article published on July 25, 2012

Inverted papilloma of the middle ear: a case report and review of the literature

scientific article published on November 2, 2010

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 speech perception after cochlear implant in pediatric patients with GJB2 mutations ⬇️

scientific article published on March 9, 2013

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

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

scientific article published on 16 September 2019

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

scientific article published in 2021

Minimally Traumatic Cochlear Implant Surgery: Expert Opinion in 2010 and 2020

scientific article published in 2022

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

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 USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations ⬇️

scientific article published on May 19, 2011

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

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

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.

scientific article published in January 2007

Pneumolabyrinth, intracochlear and vestibular fluid loss after cochlear implantation

scientific article published on 19 April 2018

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

scientific article published in 2021

Prevalence and clinical features of hearing loss caused by EYA4 variants

scientific article published on 27 February 2020

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

Prognostic impact of salvage treatment on hearing recovery in patients with sudden sensorineural hearing loss refractory to systemic corticosteroids: A retrospective observational study

scientific article published on 28 December 2015

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

Round Window Application of an Active Middle Ear Implant: A Comparison With Hearing Aid Usage in Japan

scientific article published on 5 May 2017

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

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

scientific article

Template-guided implantation of the Bonebridge: clinical experience

scientific article published on 19 December 2014

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 availability of an adhesive bone conduction hearing device: a preliminary report of a single-center experience

scientific article published on 06 March 2020

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 diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage.

scientific article

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

journal article; published in Acta Oto-Laryngologica in 2016

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

scientific article published in 2021

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

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

scientific article published on 18 November 2019

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

scientific article

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

scientific article published in 2022

Vestibular functions of hereditary hearing loss patients with GJB2 mutations

scientific article published on 25 March 2015

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

[Comparison of the diagnostic value of 3 T MRI after intratympanic injection of GBCA, electrocochleography, and the glycerol test in patients with Meniere's disease]

scientific article published on 01 October 2012

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