Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

by Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami
Published 2012-01-01

Advances in Molecular Genetics and the Molecular Biology of Deafness

by Shin-ya Nishio, Isabelle Schrauwen, Hideaki Moteki, Hela Azaiez
Published 2016-01-01

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

by Yoh-Ichiro Iwasa, Shin-Ya Nishio, Shin-Ichi Usami
Published 2016-01-01

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

by Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami
Published 2019-09-01

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

by Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami
Published 2013-01-01

Haplotype Analysis of <i>GJB2</i> Mutations: Founder Effect or Mutational Hot Spot?

by Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Yoshihiro Noguchi, Shin-ichi Usami
Published 2020-02-01

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

by Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-Ya Nishio, Shin-Ichi Usami
Published 2016-01-01

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

by Maiko Miyagawa, Shin-ya Nishio, Takuo Ikeda, Kunihiro Fukushima, Shin-ichi Usami
Published 2013-01-01

Deafness gene expression patterns in the mouse cochlea found by microarray analysis.

by Hidekane Yoshimura, Yutaka Takumi, Shin-ya Nishio, Nobuyoshi Suzuki, Yoh-ichiro Iwasa, Shin-ichi Usami
Published 2014-01-01

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

by Shin-ichi Usami, Shin-ya Nishio, Makoto Nagano, Satoko Abe, Toshikazu Yamaguchi, Deafness Gene Study Consortium
Published 2012-01-01

Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea.

by Yutaka Takumi, Shin-ya Nishio, Kenneth Mugridge, Tomohiro Oguchi, Shigenari Hashimoto, Nobuyoshi Suzuki, Satoshi Iwasaki, Claude Jolly, Shin-ichi Usami
Published 2014-01-01

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

by Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami
Published 2013-01-01

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of <i>OTOA</i>-Associated Hearing Loss

by Kenjiro Sugiyama, Hideaki Moteki, Shin-ichiro Kitajiri, Tomohiro Kitano, Shin-ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Satoko Abe, Akiko Ozaki, Remi Motegi, Hirooki Matsui, Masato Teraoka, Yumiko Kobayashi, Tomoki Kosho, Shin-ichi Usami
Published 2019-09-01

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

by Hidekane Yoshimura, Satoshi Iwasaki, Shin-Ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-Ichi Usami
Published 2014-01-01

Mutational Spectrum and Clinical Features of Patients with <i>LOXHD1</i> Variants Identified in an 8074 Hearing Loss Patient Cohort

by Karuna Maekawa, Shin-ya Nishio, Satoko Abe, Shin-ichi Goto, Yohei Honkura, Satoshi Iwasaki, Yukihiko Kanda, Yumiko Kobayashi, Shin-ichiro Oka, Mayuri Okami, Chie Oshikawa, Naoko Sakuma, Hajime Sano, Masayuki Shirakura, Natsumi Uehara, Shin-ichi Usami
Published 2019-09-01

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

by Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami
Published 2020-03-01

The Prevalence and Clinical Characteristics of <i>TECTA</i>-Associated Autosomal Dominant Hearing Loss

by Rika Yasukawa, Hideaki Moteki, Shin-ya Nishio, Kotaro Ishikawa, Satoko Abe, Yohei Honkura, Misako Hyogo, Ryota Mihashi, Tetsuo Ikezono, Tomoko Shintani, Noriko Ogasawara, Kyoko Shirai, Hiroshi Yoshihashi, Takashi Ishino, Koshi Otsuki, Tsukasa Ito, Kazuma Sugahara, Shin-ichi Usami
Published 2019-09-01

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing l...

by Tomohiro Kitano, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-Ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-Ichi Usami
Published 2017-01-01

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

by Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami
Published 2018-01-01

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

by Yoh-Ichiro Iwasa, Shin-Ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-Ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-Ichi Usami
Published 2019-01-01