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ArticlesPeer ReviewedFull Text
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
Author / Creator:Usami, Shin-ichi ; Nishio, Shin-ya
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.665-681
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Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
Author / Creator:Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-01, Vol.12 (1), p.634-7, Article 634
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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
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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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
Author / Creator: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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.363-382
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ArticlesPeer ReviewedFull Text
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-03, Vol.11 (1), p.1343-1343, Article 1343
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Prevalence and clinical features of hearing loss caused by EYA4 variants
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-02, Vol.10 (1), p.3662-3662, Article 3662
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Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2016-11, Vol.8 (11), p.1310-1324
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Genetic background in late-onset sensorineural hearing loss patients
Author / Creator:Uehara, Natsumi ; Fujita, Takeshi ; Yamashita, Daisuke ; Yokoi, Jun ; Katsunuma, Sayaka ; Kakigi, Akinobu ; Nishio, Shin-Ya ; Nibu, Ken-Ichi ; Usami, Shin-Ichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-04, Vol.67 (4), p.223-230
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ArticlesPeer ReviewedFull Text
Milestones toward cochlear gene therapy for patients with hereditary hearing loss
Author / Creator:Yoshimura, Hidekane ; Nishio, Shin‐Ya ; Usami, Shin‐Ichi
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:Laryngoscope investigative otolaryngology, 2021-10, Vol.6 (5), p.958-967
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ArticlesPeer ReviewedFull Text
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss
Author / Creator:Miyajima, Hiroki ; Moteki, Hideaki ; Day, Timothy ; Nishio, Shin-ya ; Murata, Takaaki ; Ikezono, Tetsuo ; Takeda, Hidehiko ; Abe, Satoko ; Iwasaki, Satoshi ; Takahashi, Masahiro ; Naito, Yasushi ; Yamazaki, Hiroshi ; Kanda, Yukihiko ; Kitajiri, Shin-ichiro ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-04, Vol.10 (1), p.7056-7056, Article 7056
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Identification of source populations for reintroduction in extinct populations based on genome-wide SNPs and mtDNA sequence: a case study of the endangered subalpine grassland butterfly Aporia hippia...
Author / Creator:Nakahama, Naoyuki ; Hanaoka, Toshimichi ; Itoh, Tateo ; Kishimoto, Toshio ; Ohwaki, Atsushi ; Matsuo, Ayumi ; Kitahara, Masahiko ; Usami, Shin-ichi ; Suyama, Yoshihisa ; Suka, Takeshi
Publisher:Cham: Springer International Publishing
Journal title:Journal of insect conservation, 2022-02, Vol.26 (1), p.121-130
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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
Author / Creator:Walls, W. Daniel ; Moteki, Hideaki ; Thomas, Taylor R. ; Nishio, Shin-ya ; Yoshimura, Hidekane ; Iwasa, Yoichiro ; Frees, Kathy L. ; Nishimura, Carla J. ; Azaiez, Hela ; Booth, Kevin T. ; Marini, Robert J. ; Kolbe, Diana L. ; Weaver, A. Monique ; Schaefer, Amanda M. ; Wang, Kai ; Braun, Terry A. ; Usami, Shin-ichi ; Barr-Gillespie, Peter G. ; Richardson, Guy P. ; Smith, Richard J. ; Casavant, Thomas L.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-10, Vol.139 (10), p.1315-1323
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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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ArticlesPeer ReviewedFull Text
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel
Author / Creator:Nishio, Shin‐ya ; Moteki, Hideaki ; Usami, Shin‐ichi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2018-07, Vol.6 (4), p.678-686
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ArticlesPeer ReviewedFull Text
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing
Author / Creator:Yoshimura, Hidekane ; Miyagawa, Maiko ; Kumakawa, Kozo ; Nishio, Shin-Ya ; Usami, Shin-Ichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-05, Vol.61 (5), p.419-422
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ArticlesPeer ReviewedFull Text
Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia‐atresia
Author / Creator:Yoshimura, Hidekane ; Takahashi, Masahiro ; Iwasaki, Satoshi ; Shinagawa, Jun ; Takashimizu, Ikkei ; Nagai, Fumio ; Yotsuyanagi, Takatoshi ; Usami, Shin‐ichi
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2021-08, Vol.9 (8), p.e04408-n/a
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Cochlear implantation in a patient with a POU4F3 mutation
Author / Creator:Miyake, Keitaro ; Shirai, Kyoko ; Nishiyama, Nobuhiro ; Kawaguchi, Sachie ; Ohta, Yoko ; Kawano, Atsushi ; Usami, Shin‐ichi ; Kitano, Tomohiro ; Tsukahara, Kiyoaki
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2021-01, Vol.9 (1), p.298-303
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Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan
Author / Creator:Maeda, Yasunori ; Sasaki, Akira ; Kasai, Shuya ; Goto, Shinichi ; Nishio, Shin-ya ; Sawada, Kaori ; Tokuda, Itoyo ; Itoh, Ken ; Usami, Shin-ichi ; Matsubara, Atsushi
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2020, Vol.7 (1), p.27-27, Article 27
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Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss
Author / Creator:Abe, Satoko ; Usami, Shin-ichi ; Nakamura, Yusuke
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2003-11, Vol.48 (11), p.564-570
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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
Author / Creator:Fukuoka, Hisakuni ; Kanda, Yukihiko ; Ohta, Shuji ; Usami, Shin-ichi
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2007-06, Vol.52 (6), p.510-515
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The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients

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

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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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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

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Prevalence and clinical features of hearing loss caused by EYA4 variants

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Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

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Genetic background in late-onset sensorineural hearing loss patients

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Milestones toward cochlear gene therapy for patients with hereditary hearing loss

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Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

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Identification of source populations for reintroduction in extinct populations based on genome-wide SNPs and mtDNA sequence: a case study of the endangered subalpine grassland butterfly Aporia hippia...

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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

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

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

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Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia‐atresia

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Cochlear implantation in a patient with a POU4F3 mutation

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Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan

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Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss

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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

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