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ArticlesPeer ReviewedFull Text
TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear
Author / Creator:Pan, Bifeng ; Géléoc, Gwenaelle S. ; Asai, Yukako ; Horwitz, Geoffrey C. ; Kurima, Kiyoto ; Ishikawa, Kotaro ; Kawashima, Yoshiyuki ; Griffith, Andrew J. ; Holt, Jeffrey R.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-08, Vol.79 (3), p.504-515
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ArticlesPeer ReviewedFull Text
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Author / Creator:Yamano, Shio ; Iguchi, Akihiro ; Ishikawa, Kotaro ; Sakamoto, Atsushi ; Uchiyama, Toru ; Yanagi, Kumiko ; Kaname, Tadashi ; Kunishima, Shinji ; Ishiguro, Akira
Publisher:Singapore: Springer Nature Singapore
Journal title:International journal of hematology, 2023-04, Vol.117 (4), p.622-625
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ArticlesPeer ReviewedFull Text
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
Author / Creator:Kobayashi, Masafumi ; Miyagawa, Maiko ; Nishio, Shin-ya ; Moteki, Hideaki ; Fujikawa, Taro ; Ohyama, Kenji ; Sakaguchi, Hirofumi ; Miyanohara, Ikuyo ; Sugaya, Akiko ; Naito, Yasushi ; Morita, Shin-ya ; Kanda, Yukihiko ; Takahashi, Masahiro ; Ishikawa, Kotaro ; Nagano, Yuki ; Tono, Tetsuya ; Oshikawa, Chie ; Kihara, Chiharu ; Takahashi, Haruo ; Noguchi, Yoshihiro ; Usami, Shin-ichi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-03, Vol.13 (3), p.e0193359-e0193359
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ArticlesPeer ReviewedFull Text
Comprehensive analysis of syndromic hearing loss patients in Japan
Author / Creator:Ideura, Michie ; Nishio, Shin-ya ; Moteki, Hideaki ; Takumi, Yutaka ; Miyagawa, Maiko ; Sato, Teruyuki ; Kobayashi, Yumiko ; Ohyama, Kenji ; Oda, Kiyoshi ; Matsui, Takamichi ; Ito, Tsukasa ; Suzumura, Hiroshi ; Nagai, Kyoko ; Izumi, Shuji ; Nishiyama, Nobuhiro ; Komori, Manabu ; Kumakawa, Kozo ; Takeda, Hidehiko ; Kishimoto, Yoko ; Iwasaki, Satoshi ; Furutate, Sakiko ; Ishikawa, Kotaro ; Fujioka, Masato ; Nakanishi, Hiroshi ; Nakayama, Jun ; Horie, Rie ; Ohta, Yumi ; Naito, Yasushi ; Kakudo, Mariko ; Sakaguchi, Hirofumi ; Kataoka, Yuko ; Sugahara, Kazuma ; Hato, Naohito ; Nakagawa, Takashi ; Tsuchihashi, Nana ; Kanda, Yukihiko ; Kihara, Chiharu ; Tono, Tetsuya ; Miyanohara, Ikuyo ; Ganaha, Akira ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.11976-13, Article 11976
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ArticlesPeer ReviewedFull Text
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Author / Creator:Naito, Takehiko ; Nishio, Shin-ya ; Iwasa, Yoh-ichiro ; Yano, Takuya ; Kumakawa, Kozo ; Abe, Satoko ; Ishikawa, Kotaro ; Kojima, Hiromi ; Namba, Atsushi ; Oshikawa, Chie ; Usami, Shin-ichi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-05, Vol.8 (5), p.e63231
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ArticlesPeer ReviewedFull Text
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
Author / Creator:Yasukawa, Rika ; Moteki, Hideaki ; Nishio, Shin-ya ; Ishikawa, Kotaro ; Abe, Satoko ; Honkura, Yohei ; Hyogo, Misako ; Mihashi, Ryota ; Ikezono, Tetsuo ; Shintani, Tomoko ; Ogasawara, Noriko ; Shirai, Kyoko ; Yoshihashi, Hiroshi ; Ishino, Takashi ; Otsuki, Koshi ; Ito, Tsukasa ; Sugahara, Kazuma ; Usami, Shin-ichi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-09, Vol.10 (10), p.744
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ArticlesPeer ReviewedFull Text
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Author / Creator:Yoshimura, Hidekane ; Iwasaki, Satoshi ; Nishio, Shin-ya ; Kumakawa, Kozo ; Tono, Tetsuya ; Kobayashi, Yumiko ; Sato, Hiroaki ; Nagai, Kyoko ; Ishikawa, Kotaro ; Ikezono, Tetsuo ; Naito, Yasushi ; Fukushima, Kunihiro ; Oshikawa, Chie ; Kimitsuki, Takashi ; Nakanishi, Hiroshi ; Usami, Shin-ichi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e90688
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ArticlesPeer ReviewedFull Text
Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss
Author / Creator:Maekawa, Karuna ; Nishio, Shin-ya ; Ishikawa, Kotaro ; Takahashi, Masahiro ; Kumakawa, Kozo ; Okami, Mayuri ; Yoshimura, Hidekane ; Nakayama, Jun ; Teraoka, Masato ; Usami, Shin-ichi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-01, Vol.16 (2), p.123
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ArticlesPeer ReviewedFull Text
Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort
Author / Creator:Arai, Yasuhiro ; Nishio, Shin-ya ; Goto, Shinichi ; Kobayashi, Yumiko ; Honkura, Yohei ; Ganaha, Akira ; Ishikawa, Kotaro ; Oka, Shin-ichiro ; Futagawa, Hiroshi ; Okami, Mayuri ; Takada, Fumio ; Nagai, Kyoko ; Esaki, Tomoko ; Okano, Takayuki ; Ohta, Yumi ; Masuda, Shin ; Egusa, Kentaro ; Teraoka, Masato ; Sugahara, Kazuma ; Usami, Shin-ichi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-01, Vol.16 (1), p.60
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ArticlesPeer ReviewedFull Text
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1: e90688
Author / Creator:Yoshimura, Hidekane ; Iwasaki, Satoshi ; Nishio, Shin-ya ; Kumakawa, Kozo ; Tono, Tetsuya ; Kobayashi, Yumiko ; Sato, Hiroaki ; Nagai, Kyoko ; Ishikawa, Kotaro ; Ikezono, Tetsuo
Journal title:PloS one, 2014-03, Vol.9 (3)
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ArticlesPeer ReviewedFull Text
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation. e63231
Author / Creator:Naito, Takehiko ; Nishio, Shin-ya ; Iwasa, Yoh-ichiro ; Yano, Takuya ; Kumakawa, Kozo ; Abe, Satoko ; Ishikawa, Kotaro ; Kojima, Hiromi ; Namba, Atsushi ; Oshikawa, Chie
Journal title:PloS one, 2013-05, Vol.8 (5)
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ArticlesPeer ReviewedFull Text
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Author / Creator:Watanabe, Kizuki ; Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-04, Vol.14 (1), p.8326-8326, Article 8326
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ArticlesPeer ReviewedFull Text
Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
Author / Creator:Miyagawa, Maiko ; Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-05, Vol.59 (5), p.262-268
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ArticlesPeer ReviewedFull Text
Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
Author / Creator:Usami, Shin-ichi ; Nishio, Shin-ya ; Nagano, Makoto ; Abe, Satoko ; Yamaguchi, Toshikazu
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-02, Vol.7 (2), p.e31276-e31276
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ArticlesPeer ReviewedFull Text
Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
Author / Creator:Yano, Takuya ; Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-02, Vol.59 (2), p.100-106
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TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

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

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Comprehensive analysis of syndromic hearing loss patients in Japan

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Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

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The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

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Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

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Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss

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Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort

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Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1: e90688

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Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation. e63231

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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

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

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

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

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