Paper

• 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.
  Usami SI, Isaka Y, Miyagawa M, Nishio SY.
  Hum Genet., 131(3_4), 903-914, 2022
• Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases.
  Nishio SY, Moteki H, Miyagawa M, Yamasoba T, Kashio A, Iwasaki S, Takahashi M, Naito Y, Fujiwara K, Sugaya A, Takahashi H,Kitaoka K,Usami SI.
  Acta Otolaryngol., 142(3_4), 308-315, 2022
• Cochlear Implantation From the Perspective of Genetic Background.
  Usami SI, Nishio SY, Moteki H, Miyagawa M, Yoshimura H.
  Anat Rec (Hoboken)., 303(3), 563-593, 2020
• Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.
  Oka SI, Day TF, Nishio SY, Moteki H, Miyagawa M, Morita S, Izumi S, Ikezono T, Abe S, Nakayama J, Hyogo M, Okamoto N, Uehara N, Oshikawa C, Kitajiri SI, Usami SI.
  Genes (Basel). , 11(3), E273, 2020
• Genetic testing has the potential to impact hearing preservation following cochlear implantation.
  Yoshimura H, Moteki H, Nishio SY, Miyajima H, Miyagawa M, Usami SI.
  Acta Otolaryngol., 140(6), 438-444, 2020
• Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes.
  Moteki H, Nishio SY, Miyagawa M, Tsukada K, Noguchi Y, Usami SI.
  Acta Otolaryngol., 138(12), 1080-1085, 2019
• Comprehensive analysis of syndromic hearing loss patients in Japan.
  Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nisiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugawara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara CH, Tono T, Miyanohara I, Ganaha A, Usami SI.
  Sci Rep., 9, 11976, 2019
• WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
  Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.
  PLOS ONE, 13(3), e0193359, 2018
• ＜遺伝子変異による耳鼻咽喉科疾患＞感音難聴
  北尻真一郎、西尾信哉、宮川麻衣子、宇佐美真一
  耳喉頭頸, 90(8), 632-638, 2018
• Occupational exposure limits for ethylene glycol monobutyl ether, isoprene, isopropyl acetate and propyleneimine, and classifications on carcinogenicity, occupational sensitizer and reproductive toxicant.
  Committee for Recommendation of Occupational Exposure Limits, Japan Society for Occupational Health., Azuma K, Endo G, Endo Y, Fukushima T, Hara K, Hori H, Horie S, Horiguchi H, Ichiba M, Ichihara G, Ikeda M, Ishitake T, Ito A, Ito Y, Iwasawa S, Kamijima M, Karita K, Katoh T, Kawai T, Kawamoto T, Kishi R, et al.
  J Occup Health, 59(4), 364-366, Jul. 2017
• POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
  Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.
  PLOS ONE, 12(5), e0177636, May 2017
• Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.
  Moteki H, Nishio SY, Miyagawa M, Tsukada K, Iwasaki S, Usami SI.
  Acta Otolaryngol, 137(5), 516-521, May 2017
• Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
  Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
  PLOS ONE, 11(9), e0162230, Sep. 2016
• Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
  Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S.
  J Hum Genet, 61(5), 419-22, May 2016
• A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.
  Miyagawa M, Nishio SY, Usami S.
  Otol Neurotol, 37(2), e126-34, Feb. 2016
• Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection.
  Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio SY, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.
  Pediatr Neurol, 55, 52-7, Feb. 2016
• Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis
  Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 158S-168S, May 2015
• Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
  Miyagawa, Maiko; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 148S-157S, May 2015
• Germinal Mosaicism in a Family With BO Syndrome
  Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 118S-122S, May 2015
• Detailed hearing and vestibular profiles in the patients with COCH mutations
  Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin-ya; Naito, Yasushi; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 100S-110S, May 2015
• The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
  Miyagawa, Maiko; Nishio, Shin-ya; Sakurai, Yuika; Hattori, Mitsuru; Tsukada, Keita; Moteki, Hideaki; Kojima, Hiromi; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 193S-204S, May 2015
• Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing
  Miyagawa, Maiko; Nishio, Shin-ya; Ichinose, Aya; Iwasaki, Satoshi; Murata, Takaaki; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 84S-93S, May 2015
• Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness
  Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Naito, Takehiko; Yoshimura, Hidekane; Iwasa, Yoh-ichiro; Mori, Kentaro; Shima, Yutaka; Sakuma, Naoko; Usami, Shin-ichi;
  ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 6S-48S, May 2015
• Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries
  Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;
  ACTA OTO-LARYNGOLOGICA, 134(7), 717-727, Jul. 2014
• Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
  Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;
  JOURNAL OF HUMAN GENETICS, 59(5), 262-268, May 2014
• 新生児聴覚スクリーニング後の幼児期、学齢期の難聴児の支援:―長野県難聴児支援センターの取り組みから―
  前田 麻貴; 宮川 麻衣子; 茂木 英明; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 57(5), 505-506, 2014
• 日本人難聴遺伝子変異データベースの構築と臨床応用
  西尾 信哉; 宮川 麻衣子; 内藤 武彦; 岩佐 陽一郎; 市瀬 彩; 宇佐美 真一;
  AUDIOLOGY JAPAN, 57(5), 463-464, 2014
• 次世代シーケンサーを用いて見出された TMPRSS3 遺伝子変異症例:―臨床像と残存聴力活用型人工内耳術後成績の検討―
  宮川 麻衣子; 西尾 信哉; 塚田 景大; 茂木 英明; 宇佐美 真一;
  AUDIOLOGY JAPAN, 57(5), 323-324, 2014
• 進行性難聴により人工内耳装用に至った先天性サイトメガロウイルス感染症の2例
  權田 綾子; 宮川 麻衣子; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 57(5), 319-320, 2014
• 人工内耳装用児の聴性行動および認知・発達の伸びに関する検討
  加藤 理子; 西尾 信哉; 宮川 麻衣子; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 57(5), 279-280, 2014
• 長野県難聴児支援センターの取り組み -入園・入学に関する支援について-
  前田 麻貴; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 56(5), 707-708, 30 Sep. 2013
• GJB2遺伝子変異及び蝸牛奇形・蝸牛神経低形成を伴う難聴の人工内耳MCレベルに関する検討
  鈴木 美華; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 56(5), 615-616, 30 Sep. 2013
• 乳幼児期のASSR推定聴力閾値と成長後の純音聴力検査閾値の比較 : GJB2遺伝子変異症例の検討
  工 穣; 塚田 景大; 宮川 麻衣子; 宇佐美 真一;
  AUDIOLOGY JAPAN, 56(5), 503-504, 30 Sep. 2013
• 信州大学病院人工内耳センターの6年間の取り組み : 難聴医療の進歩に伴う親指導を中心とする療育プログラムの現状
  北野 庸子; 宇佐美 美一; 工 穣; 茂木 英明; 宮川 麻衣子; 鈴木 美華; 前田 麻貴;
  AUDIOLOGY JAPAN, 56(5), 383-384, 30 Sep. 2013
• 保険収載後の難聴遺伝子診断の現況
  宮川 麻衣子; 西尾 信哉; 宇佐美 真一; 長野 誠; 山口 敏和;
  AUDIOLOGY JAPAN, 56(5), 373-374, 30 Sep. 2013
• Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
  岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 56(5), 371-382, 30 Sep. 2013
• Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS
  Miyagawa, Maiko; Nishio, Shin-ya; Ikeda, Takuo; Fukushima, Kunihiro; Usami, Shin-ichi;
  PLOS ONE, 8(10), 2013
• Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients
  Miyagawa, Maiko; Naito, Takehiko; Nishio, Shin-ya; Kamatani, Naoyuki; Usami, Shin-ichi;
  PLOS ONE, 8(8), 2013
• Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
  岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 56(5), 371-372, 2013
• 保険収載となった「先天性難聴の遺伝子診断」の現状について
  工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;
  AUDIOLOGY JAPAN, 55(5), 459-460, 30 Sep. 2012
• 信州大学における難聴遺伝子診療外来の現況
  宮川 麻衣子; 茂木 英明; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 55(5), 457-458, 30 Sep. 2012
• 長野県における新生児聴覚スクリーニングの現況
  前田 麻貴; 工 穣; 茂木 英明; 宮川 麻衣子; 西尾 信哉; 宇佐美 真一;
  AUDIOLOGY JAPAN, 55(5), 339-340, 30 Sep. 2012
• 舌下腺・口腔底切除術および広頸筋弁による再建術を行った舌下腺粘表皮癌の1例
  志摩 温; 岩崎 聡; 宮川 麻衣子; 茂木 英明; 三島 吉登; 宇佐美 真一;
  頭頸部外科 = Journal of Japan Society for Head and Neck Surgery, 22(1), 53-57, 30 Jun. 2012
• Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis
  Iwasaki, Satoshi; Suzuki, Hiroaki; Moteki, Hideaki; Miyagawa, Maiko; Takumi, Yutaka; Usami, Shin-ichi;
  ACTA OTO-LARYNGOLOGICA, 132(6), 676-682, Jun. 2012
• Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
  Usami, Shin-ichi; Miyagawa, Maiko; Nishio, Shin-Ya; Moteki, Hideaki; Takumi, Yutaka; Suzuki, Mika; Kitano, Yoko; Iwasaki, Satoshi;
  ACTA OTO-LARYNGOLOGICA, 132(4), 377-384, Apr. 2012
• Comparison of the diagnostic value of 3 T MRI after intratympanic injection of GBCA, electrocochleography, and the glycerol test in patients with Meniere's disease
  Fukuoka, Hisakuni; Takumi, Yutaka; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-ichi;
  ACTA OTO-LARYNGOLOGICA, 132(2), 141-145, Feb. 2012
• Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
  Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi;
  PLOS ONE, 7(8), 2012
• 残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
  茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
  AUDIOLOGY JAPAN, 54(6), 678-685, 28 Dec. 2011
• 残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) : 手術法と聴力保存成績について
  宇佐美 真一; 茂木 英明; 宮川 麻衣子; 内藤 武彦; 西尾 信哉; 工 穣; 岩崎 聡;
  Otology Japan, 21(5), 763-770, 26 Dec. 2011
• 先進医療「先天性難聴の遺伝子診断」の現状
  工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;
  AUDIOLOGY JAPAN, 54(5), 595-596, 30 Sep. 2011
• 長野県難聴児支援センター4年間の取り組み : 難聴児支援センターの役割と新しい支援システムに向けて
  前田 麻貴; 宇佐美 真一; 工 穣; 茂木 英明; 宮川 麻衣子; 北野 庸子; 鈴木 美華;
  AUDIOLOGY JAPAN, 54(5), 441-442, 30 Sep. 2011
• 残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
  茂木 英明; 宮川 麻衣子; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
  AUDIOLOGY JAPAN, 54(5), 391-392, 30 Sep. 2011
• 小児人工内耳の装用効果 : 早期に人工内耳を装用した小児症例の聴性行動、発声・発語行動の獲得過程
  北野 庸子; 宇佐美 真一; 工 穣; 茂木 英明; 宮川 麻衣子; 鈴木 美華; 前田 麻貴;
  AUDIOLOGY JAPAN, 54(5), 377-378, 30 Sep. 2011
• Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
  Usami, Shin-Ichi; Moteki, Hideaki; Suzuki, Nobuyoshi; Fukuoka, Hisakuni; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Jolly, Claude;
  ACTA OTO-LARYNGOLOGICA, 131(4), 405-412, Apr. 2011
• 残存聴力活用型人工内耳　（ＥＡＳ：　ｅｌｅｃｔｒｉｃ　ａｃｏｕｓｔｉｃ　ｓｔｉｍｕｌａｔｉｏｎ）　の長期装用者３症例における術後成績
  茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
  AUDIOLOGY JAPAN, 54(6), 678-685, 2011
• GJB2遺伝子変異症例におけるASSRでの推定聴力閾値と成長後の純音聴力検査閾値比較
  工 穣; 茂木 英明; 塚田 景大; 宮川 麻衣子; 鬼頭 良輔; 宇佐美 真一;
  AUDIOLOGY JAPAN, 53(5), 469-470, 15 Oct. 2010
• 残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) を使用した一症例 : 人工内耳手術における残存聴力保存の試み
  宇佐美 真一; 工 穣; 鈴木 伸嘉; 茂木 英明; 宮川 麻衣子; 西尾 信哉;
  Otology Japan, 20(3), 151-155, 25 Jul. 2010
• Semi-quantitative evaluation of endolymphatic hydrops by bilateral intratympanic gadolinium-based contrast agent (GBCA) administration with MRI for Meniere's disease
  Fukuoka, Hisakuni; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Takumi, Yutaka; Sugiura, Makoto; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-Ichi;
  ACTA OTO-LARYNGOLOGICA, 130(1), 10-16, Jan. 2010
• Endolymphatic hydrops and therapeutic effects are visualized in 'atypical' Meniere's disease
  Miyagawa, Maiko; Fukuoka, Hisakuni; Tsukada, Keita; Oguchi, Tomohiro; Takumi, Yutaka; Sugiura, Makoto; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-ichi;
  ACTA OTO-LARYNGOLOGICA, 129(11), 1326-1329, Nov. 2009
• 高音急墜型/高音漸傾型感音難聴症例の臨床像と遺伝的背景
  宮川 麻衣子; 鈴木 伸嘉; 茂木 英明; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 52(5), 269-270, 15 Sep. 2009
• 高音急墜型/高音漸傾型感音難聴症例の臨床像と遺伝的背景
  宮川 麻衣子; 鈴木 伸嘉; 茂木 英明; 工 穣; 宇佐美 真一;
  AUDIOLOGY JAPAN, 52(5), 269-270, 2009
• 伝音難聴治療前後での気導/骨導ASSR閾値の検討
  工 穣; 茂木 英明; 林 景子; 鬼頭 良輔; 宮川 麻衣子; 宇佐美 真一;
  AUDIOLOGY JAPAN, 50(5), 605-606, 05 Sep. 2007
• 伝音難聴治療前後での気導／骨導ＡＳＳＲ閾値の検討
  工 穣; 茂木 英明; 林 景子; 鬼頭 良輔; 宮川 麻衣子; 宇佐美 真一;
  AUDIOLOGY JAPAN, 50(5), 605-606, 2007