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 no Hum Mutat (2017)

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 em 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 em 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 no J Hum Genet (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 no Otol Neurotol (2016)

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Por Iwasa, Yoh-ichiro, Nishio, Shin-ya, Usami, Shin-ichi
Publicado no PLoS One (2016)

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

Por Nishio, Shin-Ya, Hayashi, Yoshiharu, Watanabe, Manabu, Usami, Shin-Ichi
Publicado no Genet Test Mol Biomarkers (2015)

IgG4-related chronic rhinosinusitis: A new clinical entity of nasal disease

Por Moteki, Hideaki, Yasuo, Masanori, Hamano, Hideaki, Uehara, Takeshi, Usami, Shin-ichi
Publicado em 2011

Effects of EAS cochlear implantation surgery on vestibular function

Por Tsukada, Keita, Moteki, Hideaki, Fukuoka, Hisakuni, Iwasaki, Satoshi, Usami, Shin-ichi
Publicado em 2013

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 em 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 em 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 em 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 em 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 no J Hum Genet (2016)

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

Por Mori, Kentaro, Moteki, Hideaki, Miyagawa, Maiko, Nishio, Shin-ya, Usami, Shin-ichi
Publicado no PLoS One (2016)

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

Por Iwasaki, Satoshi, Suzuki, Hiroaki, Moteki, Hideaki, Miyagawa, Maiko, Takumi, Yutaka, Usami, Shin-ichi
Publicado em 2012

The advantages of sound localization and speech perception of bilateral electric acoustic stimulation

Por Moteki, Hideaki, Kitoh, Ryosuke, Tsukada, Keita, Iwasaki, Satoshi, Nishio, Shin-Ya, Usami, Shin-Ichi
Publicado no Acta Otolaryngol (2015)

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Por Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji, Tono, Tetsuya, Usami, Shin-ichi, Suzuki, Mikio
Publicado em 2013

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis

Por Yoshimura, Hidekane, Takumi, Yutaka, Nishio, Shin-ya, Suzuki, Nobuyoshi, Iwasa, Yoh-ichiro, Usami, Shin-ichi
Publicado em 2014

Identification of CRYM as a Candidate Responsible for Nonsyndromic Deafness, through cDNA Microarray Analysis of Human Cochlear and Vestibular Tissues

Por Abe, Satoko, Katagiri, Toyomasa, Saito-Hisaminato, Akihiko, Usami, Shin-ichi, Inoue, Yasuhiro, Tsunoda, Tatsuhiko, Nakamura, Yusuke
Publicado em 2003