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

por Nishio, Shin‐ya, Usami, Shin‐ichi
Publicado 2017

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

por Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2022

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

por Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2021

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

por Usami, Shin-ichi, Nishio, Shin-ya
Publicado 2021

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

por Miyagawa, Maiko, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2012

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

por Yano, Takuya, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2014

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

por Miyagawa, Maiko, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2014

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

por Miyagawa, Maiko, Nishio, Shin-Ya, Usami, Shin-Ichi
Publicado 2016

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

por Nishio, Shin‐ya, Moteki, Hideaki, Usami, Shin‐ichi
Publicado 2018

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

por Yoshimura, Hidekane, Nishio, Shin‐Ya, Usami, Shin‐Ichi
Publicado 2021

Advances in Molecular Genetics and the Molecular Biology of Deafness

por Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
Publicado 2016

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

por Iwasa, Yoh-ichiro, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2016

Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation

por Abe, Satoko, Takeda, Hidehiko, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2018

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

por Usami, Shin-ichi, Isaka, Yuichi, Miyagawa, Maiko, Nishio, Shin-ya
Publicado 2022

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

por Kitano, Tomohiro, Kitajiri, Shin-ichiro, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2019

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

por Usami, Shin-ichi, Nishio, Shin-ya, Nagano, Makoto, Abe, Satoko, Yamaguchi, Toshikazu
Publicado 2012

Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord

por Furutate, Sakiko, Iwasaki, Satoshi, Nishio, Shin-ya, Moteki, Hideaki, Usami, Shin-ichi
Publicado 2011

Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

por Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
Publicado 2013

Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

por Miyagawa, Maiko, Nishio, Shin-ya, Ikeda, Takuo, Fukushima, Kunihiro, Usami, Shin-ichi
Publicado 2013

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

por Yoshimura, Hidekane, Miyagawa, Maiko, Kumakawa, Kozo, Nishio, Shin-ya, Usami, Shin-ichi
Publicado 2016