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List of works by Shin-Ichi Usami

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SOD1 gene polymorphisms in sudden sensorineural hearing loss.

scientific article
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness

scientific article
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
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea

scientific article
Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.

scientific article published on 23 March 2015
The advantages of sound localization and speech perception of bilateral electric acoustic stimulation

scientific article
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

scientific article published on 21 January 2016
A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.

scientific article published on 3 April 2017
Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.

scientific article published on 18 March 2015
Epidemiological survey of acute low-tone sensorineural hearing loss.

scientific article
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
Sensorineural hearing loss and mild cardiac phenotype caused by an mutation

scientific article published on 22 August 2018
The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports

journal article; published in Acta Oto-Laryngologica in 2016
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
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
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

scientific article published on 21 March 2014
Language development in Japanese children who receive cochlear implant and/or hearing aid.

scientific article published on 26 January 2012
Vestibular functions of hereditary hearing loss patients with GJB2 mutations

scientific article published on 25 March 2015
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
Germinal mosaicism in a family with BO syndrome.

scientific article published on 16 March 2015
Inner hair cells of mice express the glutamine transporter SAT1

scientific article published on July 25, 2012
A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.

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

scientific article published on 5 March 2015
High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene

scientific article published in July 2014
Discrimination of Japanese monosyllables in patients with high-frequency hearing loss

scientific article published on 19 November 2015
Cochlear Implantation From the Perspective of Genetic Background

scientific article published on 06 February 2020
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

scientific article published on 24 September 2019
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
Prevalence and clinical features of hearing loss caused by EYA4 variants

scientific article published on 27 February 2020
Round Window Application of an Active Middle Ear Implant: A Comparison With Hearing Aid Usage in Japan

scientific article published on 5 May 2017
Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI

scientific article published in PLoS ONE
The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage.

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

scientific article published on 16 September 2019
Minimally Traumatic Cochlear Implant Surgery: Expert Opinion in 2010 and 2020

scientific article published in 2022
Genetic background in late-onset sensorineural hearing loss patients

scientific article published in 2021
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

scientific article published on 27 April 2020
Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable)

scientific article published on 15 December 2020
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

scientific article published on 07 May 2020
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

scientific article published on 16 September 2019
Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms

scientific article published on 10 November 2020
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

scientific article published in 2021
Pneumolabyrinth, intracochlear and vestibular fluid loss after cochlear implantation

scientific article published on 19 April 2018
Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

journal article; published in Acta Oto-Laryngologica Case Reports in 2017
Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.

scientific article published in April 2017
Genetic testing has the potential to impact hearing preservation following cochlear implantation

scientific article published on 05 March 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
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing

scientific article published on 05 June 2020
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
The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan

scientific article published on 24 March 2017
Milestones toward cochlear gene therapy for patients with hereditary hearing loss

scientific article published in 2021

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