The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients von Usami, Shin-ichi, Nishio, Shin-ya

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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 von Usami, Shin-ichi, Isaka, Yuichi, Miyagawa, Maiko, Nishio, Shin-ya

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Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients von Nishio, Shin-ya, Usami, Shin-ichi

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Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss von Nishio, Shin-ya, Usami, Shin-ichi

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Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants von Tsukada, Keita, Nishio, Shin-ya, Takumi, Yutaka, Usami, Shin-ichi

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Cochlear Implantation From the Perspective of Genetic Background von Usami, Shin‐ichi, Nishio, Shin‐ya, Moteki, Hideaki, Miyagawa, Maiko, Yoshimura, Hidekane

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Genetic background in late-onset sensorineural hearing loss patients von Uehara, Natsumi, Fujita, Takeshi, Yamashita, Daisuke, Yokoi, Jun, Katsunuma, Sayaka, Kakigi, Akinobu, Nishio, Shin-Ya, Nibu, Ken-Ichi, Usami, Shin-Ichi

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Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients von Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome von Li, Mengnan, Nishio, Shin-ya, Naruse, Chie, Riddell, Meghan, Sapski, Sabrina, Katsuno, Tatsuya, Hikita, Takao, Mizapourshafiyi, Fatemeh, Smith, Fiona M., Cooper, Leanne T., Lee, Min Goo, Asano, Masahide, Boettger, Thomas, Krueger, Marcus, Wietelmann, Astrid, Graumann, Johannes, Day, Bryan W., Boyd, Andrew W., Offermanns, Stefan, Kitajiri, Shin-ichiro, Usami, Shin-ichi, Nakayama, Masanori

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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores von Miyoshi, Takushi, Belyantseva, Inna A., Kitajiri, Shin-ichiro, Miyajima, Hiroki, Nishio, Shin-ya, Usami, Shin-ichi, Kim, Bong Jik, Choi, Byung Yoon, Omori, Koichi, Shroff, Hari, Friedman, Thomas B.

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The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification... von Nishio, Shin‐ya, Usami, Shin‐ichi

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Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS von Miyagawa, Maiko, Nishio, Shin-ya, Ikeda, Takuo, Fukushima, Kunihiro, Usami, Shin-ichi

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Prevalence and clinical features of hearing loss caused by EYA4 variants von Shinagawa, Jun, Moteki, Hideaki, Nishio, Shin-ya, Ohyama, Kenji, Otsuki, Koshi, Iwasaki, Satoshi, Masuda, Shin, Oshikawa, Chie, Ohta, Yumi, Arai, Yasuhiro, Takahashi, Masahiro, Sakuma, Naoko, Abe, Satoko, Sakurai, Yuika, Sakaguchi, Hirofumi, Ishino, Takashi, Uehara, Natsumi, Usami, Shin-ichi

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Vestibular Preservation After Cochlear Implantation Using the Round Window Approach von Tsukada, Keita, Usami, Shin-ichi

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Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss von Ueyama, Takehiko, Ninoyu, Yuzuru, Nishio, Shin‐ya, Miyoshi, Takushi, Torii, Hiroko, Nishimura, Koji, Sugahara, Kazuma, Sakata, Hideaki, Thumkeo, Dean, Sakaguchi, Hirofumi, Watanabe, Naoki, Usami, Shin‐ichi, Saito, Naoaki, Kitajiri, Shin‐ichiro

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Frequency and clinical features of hearing loss caused by STRC deletions von Yokota, Yoh, Moteki, Hideaki, Nishio, Shin-ya, Yamaguchi, Tomomi, Wakui, Keiko, Kobayashi, Yumiko, Ohyama, Kenji, Miyazaki, Hiromitsu, Matsuoka, Rina, Abe, Satoko, Kumakawa, Kozo, Takahashi, Masahiro, Sakaguchi, Hirofumi, Uehara, Natsumi, Ishino, Takashi, Kosho, Tomoki, Fukushima, Yoshimitsu, Usami, Shin-ichi

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Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations von Tsukada, Keita, Usami, Shin-ichi

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OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients von Iwasa, Yoh-Ichiro, Nishio, Shin-Ya, Sugaya, Akiko, Kataoka, Yuko, Kanda, Yukihiko, Taniguchi, Mirei, Nagai, Kyoko, Naito, Yasushi, Ikezono, Tetsuo, Horie, Rie, Sakurai, Yuika, Matsuoka, Rina, Takeda, Hidehiko, Abe, Satoko, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-Ya, Iwasaki, Satoshi, Takahashi, Masahiro, Ito, Tsukasa, Arai, Yasuhiro, Usami, Shin-Ichi

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Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study von Miyagawa, Maiko, Nishio, Shin-ya, Usami, Shin-ichi

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Milestones toward cochlear gene therapy for patients with hereditary hearing loss von Yoshimura, Hidekane, Nishio, Shin‐Ya, Usami, Shin‐Ichi

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