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List of works by Shin-Ichi Usami

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

scientific article
Congenital hearing loss.

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

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

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

scientific article published on May 2015
Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.

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

scientific article published on April 2008
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
Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay

scientific article published in January 2007
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
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

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

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

scientific article published on November 2, 2010
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
Detailed hearing and vestibular profiles in the patients with COCH mutations

scientific article published on 16 March 2015
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.

scientific article published on 13 March 2015
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.

scientific article published on 19 March 2015
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
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

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

scientific article published on 05 October 2016
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

scientific article published on 06 April 2018
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
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
Effects of EAS cochlear implantation surgery on vestibular function

scientific article published on September 6, 2013
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
Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations

scientific article published on March 9, 2013
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

scientific article
Template-guided implantation of the Bonebridge: clinical experience

scientific article published on December 19, 2014
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

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

scientific article
Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan

scientific article published on 10 April 2017
Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis

scientific article published on March 4, 2012
Frequency and clinical features of hearing loss caused by STRC deletions

scientific article published on 13 March 2019
Etiology of single-sided deafness and asymmetrical hearing loss.

scientific article published on April 2017
Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.

scientific article published on 17 November 2016
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
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 December 29, 2015
A nationwide study on enlargement of the vestibular aqueduct in Japan

scientific article published on 6 May 2016
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 PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

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

scientific article
Comprehensive Genetic Analysis of Japanese Autosomal Dominant 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
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

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

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

scientific article published on 01 December 2018

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