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PUBLICATION LISTS

Genetic analysis of deafness

  1. Maekawa K, Nishio SY, Ishikawa K, Takahashi M, Kumakawa K, Okami M, Yoshimura H, Nakayama J, Teraoka M, Usami SI. Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss. Genes (Basel). 2025;16(2):123. PMID:40004452

  2. Kumai T, Nishio SY, Moteki H, Katada A, Usami SI. Auditory Neuropathy Caused by a Structural Variation in the OTOF Gene, Identified Using Oxford Nanopore Adaptive Sampling. Genes (Basel). 2025;16(2):116. PMID: 40004445

  3. Maekawa K, Nishio SY, Miyazaki H, Ohta Y, Oishi N, Kasai M, Yamamoto A, Okami M, Wasano K, Sakai A, Usami SI. The Prevalence and Clinical Characteristics of MYO3A-Associated Hearing Loss in 15,684 Hearing Loss Patients. Genes (Basel). 2025;16(1):92. PMID: 39858639

  4. Arai Y, Nishio SY, Goto S, Kobayashi Y, Honkura Y, Ganaha A, Ishikawa K, Oka SI, Futagawa H, Okami M, Takada F, Nagai K, Esaki T, Okano T, Ohta Y, Masuda S, Egusa K, Teraoka M, Sugahara K, Usami SI. Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort. Genes (Basel). 2025;16(1):60. PMID: 39858607

  5. Otsuka S, Morimoto C, Nishio SY, Morita S, Kikuchi D, Takahashi M, Kumakawa K, Arai Y, Sano H, Yoshimura H, Yamamoto N, Kondo S, Hasegawa M, Nishi T, Kitahara T, Usami SI. The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype. Genes (Basel). 2025;16(1):57. PMID: 39858604

  6. Usami SI, Nishio SY, Gavilán J, Acharya A, Hagr A, Lassaletta L, Li Y, Maheshwari SS, Kameswaran M, Parzefall T, Raine C, Rak K, Selleck AM, Staecker H, Stöver T, Sugarova S, Topsakal V, Van Rompaey V, Mertens G, Volkenstein S, Völter C, Shehata-Dieler W, Zernotti ME, Van de Heyning P. Testing for genetic and viral etiologies in congenital hearing loss based on a survey of cochlear implant centers: proposed HEARRING group consensus and future directions. Acta Otolaryngol. 2024;144(11-12):602-609. PMID: 39451138 

  7. Usami SI, Nishio SY, Gavilán J, Van de Heyning P, Mertens G, Karltorp E, Skarżyński H, Hagr A, Manoj M, Staecker H, Zernotti ME, Rajan GP, Müller J, Simon F, Anderson I. HEARRING group genetic marker study: genetic background of CI patients. Acta Otolaryngol. 2024;144(10):542-551. PMID: 39434647

  8. Miyanohara I, Ohori J, Tabuchi M, Nishio SY, Yamashita M, Usami SI. Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss. Genes (Basel). 2024;15(5):571. PMID: 38790200

  9. Tsukada K, Nishio SY, Takumi Y, Usami SI. Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Sci Rep. 2024;14(1):10596. PMID: 38720048 

  10. Sakuma N, Nishio SY, Goto SI, Honkura Y, Oda K, Takeda H, Kobayashi M, Kumakawa K, Iwasaki S, Takahashi M, Ito T, Arai Y, Isono Y, Obara N, Matsunobu T, Okubo K, Usami SI. Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. Genes (Basel). 2024;15(4):489. PMID: 38674423 

  11.  Yoshimura H, Okubo T, Shinagawa J, Nishio SY, Takumi Y, Usami SI. Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns. Int J Epidemiol. 2024;53(3):dyae052. PMID: 38609324 

  12. Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium. The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. Sci Rep. 2024;14(1):8326. PMID: 38594301  

  13. Kawakita M, Iwasaki S, Moteki H, Nishio SY, Kosho T, Usami SI. Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14). Genes (Basel). 2023;14(7):1350. PMID: 37510254 ​

  14. Usami SI, Nishio SY. The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. Hum Genet. 2022;141(3-4):665-681. PMID:34599366

  15. Usami SI, Isaka Y, Miyagawa M, Nishio SY. 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. Hum Genet. 2022;141(3-4):903-914. PMID:35020051

  16. Nishio SY, Usami SI. Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. Hum Genet. 2022;141(3-4):929-937. PMID:34523024

  17.  Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI. Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Hum Genet. 2022;141(3-4):865-875. PMID:34536124

  18. Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB. Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. Hum Genet. 2022;141(3-4):363-382. PMID:34232383

  19. Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Sci Rep. 2022;12(1):634. PMID:35022556

  20. Uehara N, Fujita T, Yamashita D, Yokoi J, Katsunuma S, Kakigi A, Nishio SY, Nibu KI, Usami SI. Genetic background in late-onset sensorineural hearing loss patients. J Hum Genet. 2022;67(4):223-230. PMID:34824372

  21. Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium. Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. Genes (Basel). 2021;12(10):1623. PMID:34681017

  22. Yoshimura H, Nishio SY, Isaka Y, Kurokawa T, Usami SI; Interactable Hearing Disorder Consortium. A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan. Acta Otolaryngol. 2021;141(9):841-846. PMID:34452594

  23. Matsuda N, Ootsuki K, Kobayashi S, Nemoto A, Kubo H, Usami SI, Kanani K. A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. BMC Neurol. 2021;21(1):243. PMID:34171997

  24. Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Takeno S, Moteki H, Nishio SY, Usami SI, Nagano Y, Yoshimura A, Yoshikawa K, Kato M, Ichimoto M, Watanabe R. Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss. Otol Neurotol. 2021;42(7):e866-e874. PMID:33859130

  25. Isaka Y, Nishio SY, Hishinuma E, Hiratsuka M, Usami SI. Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Genet Test Mol Biomarkers. 2021;25(1):79-83. PMID:33372830

  26. Nakashima T, Ganaha A, Tsumagari S, Nakamura T, Yamada Y, Nakamura E, Usami SI, Tono T. Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital? ORL J Otorhinolaryngol Relat Spec. 2021;83(3):196-202. PMID:33588412

  27. Maeda Y, Sasaki A, Kasai S, Goto S, Nishio SY, Sawada K, Tokuda I, Itoh K, Usami SI, Matsubara A. Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan. Hum Genome Var. 2020;7:27. PMID:33014404

  28. Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet. 2020;139(10):1315-1323. PMID:32382995

  29. Miyajima H, Moteki H, Day T, Nishio SY, Murata T, Ikezono T, Takeda H, Abe S, Iwasaki S, Takahashi M, Naito Y, Yamazaki H, Kanda Y, Kitajiri SI, Usami SI. Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss. Sci Rep. 2020;10(1):7056. PMID:32341388

  30. Li M, Nishio SY, Naruse C, Riddell M, Sapski S, Katsuno T, Hikita T, Mizapourshafiyi F, Smith FM, Cooper LT, Lee MG, Asano M, Boettger T, Krueger M, Wietelmann A, Graumann J, Day BW, Boyd AW, Offermanns S, Kitajiri SI, Usami SI, Nakayama M. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nat Commun. 2020;11(1):1343. PMID:32165640

  31. 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. Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss. Genes (Basel). 2020;11(3):273. PMID:32143290

  32. Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI. Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot? Genes (Basel). 2020;11(3):250. PMID:32120898

  33. Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI. Prevalence and clinical features of hearing loss caused by EYA4 variants. Sci Rep. 2020;10(1):3662. PMID:32107406

  34. Tsukada K, Usami SI. Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations. Auris Nasus Larynx. 2020;47(6):958-964. PMID:32536503

  35. Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI. The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss. Genes (Basel). 2019;10(10). pii: E744. PMID:31554319

  36. Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M, Oshikawa C, Sakuma N, Sano H, Shirakura M, Uehara N, Usami SI. Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes (Basel). 2019;10(10). pii: E735. PMID:31547530

  37. Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI. Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. Genes (Basel).  2019;10(9). pii: E715. PMID:31527525

  38. Kitano T, Kitajiri SI, Nishio SY, Usami SI. Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. Int J Mol Sci. 2019;20(18). pii: E4579. PMID:31527509

  39. 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, Nishiyama 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, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI. Comprehensive analysis of syndromic hearing loss patients in Japan. Sci Rep. 2019;9(1):11976. PMID:31427586

  40. Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI. OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PLoS One. 2019;14(5):e0215932. PMID:31095577

  41. Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI. Frequency and clinical features of hearing loss caused by STRC deletions. Sci Rep. 2019;9(1):4408. PMID:30867468

  42. Abe S, Nishio SY, Yokota Y, Moteki H, Kumakawa K, Usami SI. Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss. Clin Case Rep. 2018;6(11):2111-2116. PMID:30455902

  43. Abe S, Takeda H, Nishio SY, Usami SI. Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation. Hum Genome Var. 2018;5:23. PMID:30155266

  44. Usami S, Nishio S. Nonsyndromic Hearing Loss and Deafness, Mitochondrial. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019. 2004 Oct 22 [updated 2018 Jun 14]. PMID:20301595

  45. 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. WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. PLoS One. 2018;13:e0193359. PMID:29529044

  46. Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN. Congenital hearing loss. Nat Rev Dis Primers. 2017;3:16094. PMID:28079113

  47. 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. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS One. 2017;12:e0177636. PMID:28545070

  48. Arai Y, Takahashi M, Sakuma N, Nishio SY, Oridate N, Usami SI. Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma. Acta Oto-Laryngologica Case Rep. 2017;2:137-140. LINK

  49. Iwasa YI, Nishio SY, Usami SI. Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. PLoS One. 2016;11:e0166781. PMID:27911912

  50. Ueyama T, Ninoyu Y, Nishio SY, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami SI, Saito N, Kitajiri SI. Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. EMBO Mol Med. 2016;8:1310-1324. PMID:27707755

  51. Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. PLoS One. 2016;11:e0162230. PMID:27627659

  52. Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 2016;125:918-923. PMID:27469136

  53. Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet. 2016 May;61(5):419-22. PMID:26791358

  54. Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S. An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. J Hum Genet. 2016;61:253-61. PMID:26763877

  55. Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJ. Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Clin Genet. 2016;89:466–472. PMID:26346818

  56. Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami SI, Ito J, Kitajiri SI. Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. J Hum Genet. 2015;60:613-7. PMID:26178431

  57. Nishio SY, Usami SI. Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan. Annals of Otology, Rhinology & Laryngology 2015. 124: 49S-60S. PMID:25788563

  58. Nishio SY, Hattori M, Moteki H, Tsukada K, Miyagawa M, Naito T, Yoshimura H, Iwasa Y, Mori K, Shima Y, Sakuma N, Usami S. Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness. Ann Otol Rhinol Laryngol. 2015;124 Suppl 1:6S-48S. PMID:25814645

  59. Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M,Arai Y, Shearer AE, Soloan CM, Nishio SY, Kolbe SL, Iwasaki S, Oridate N, Smith RJH, Usami SI. PTPRQ mutations result in congenital hearing loss and their genotypes correlate to phenotypic features. Annals of Otology, Rhinology & Laryngology 2015. 124: 184S-192S. PMID:25788564

  60. Yoshimura H, Hashimoto T, Murata T,Fukushima K, Sugaya A, Nishio SY, Usami SI.Novel ABHD12 mutations in PHARC patients; the differential diagnosis of deaf-blindness. Annals of Otology, Rhinology & Laryngology 2015. 124: 77S-83S. PMID:25743180

  61. Mori K, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Smith RJH, Usami S. Mutations in LOXHD1 gene cause various types and severities of hearing loss. Annals of Otology, Rhinology & Laryngology 2015. 124: 135S-141S. PMID:25792669

  62. Ichinose A, Moteki H, Hattori M, Nishio SY, Usami SI. Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. Annals of Otology, Rhinology & Laryngology 2015. 124: 142S-147S. PMID:25788562

  63. Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S. Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in a Japanese hearing loss. Annals of Otology, Rhinology & Laryngology 2015. 124: 112S-117S. PMID:25780254

  64. Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri S, Usami SI. Detailed hearing and vestibular profiles in COCH mutations. Annals of Otology, Rhinology & Laryngology 2015. 124: 100S-110S. PMID:25780252

  65. Miyagawa M, Nishio SY, Kumakawa K, Usami SI. Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. Annals of Otology, Rhinology & Laryngology 2015. 124: 148S-157S. PMID:25999546

  66. Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami SI. The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation (EAS). Annals of Otology, Rhinology & Laryngology 2015. 124: 193S-204S. PMID:25770132

  67. Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami SI. Mutational spectrum and clinical features of patients with ACTG1 mutations identified by Massively parallel DNA sequencing. Annals of Otology, Rhinology & Laryngology 2015. 124: 84S-93S. PMID:25792668

  68. Miyagawa M, Nishio SY, Hattori M, Moteki H, Kobayashi Y, Sato H, Watanabe T, Naito Y, Oshikawa C, Usami SI. Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: a large cohort study using massively parallel DNA sequencing. Annals of Otology, Rhinology & Laryngology 2015. 124: 158S-168S. PMID:25792667

  69. Tsukada K, Nishio SY, Hattori M, Usami SI. Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: Their origin and a literature review. Annals of Otology, Rhinology & Laryngology 2015. 124:61S-76S. PMID:25999548

  70. Mori K, Miyanohara I, Moteki H, Nishio SY, Kurono Y, Usami SI. Novel mutations in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness. Annals of Otology, Rhinology & Laryngology 2015. 124: 129S-134S. PMID:25802247

  71. Miyagawa M, Nishio SY, Hattori M, Takumi Y, Usami SI. Germinal mosaicism in a family with BO syndrome. Annals of Otology, Rhinology & Laryngology 2015. 124: 118S-122S. PMID:25780253

  72. Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243A>G mutation. Ann Otol Rhinol Laryngol. 2015;124:177S-183S. PMID:25788561

  73. Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sato A, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol. 2015;124:169S-176S. PMID:25792666

  74. Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami S. USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms. Ann Otol Rhinol Laryngol. 2015;124:123S-128S. PMID:25743181

  75. Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S. Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports. Ann Otol Rhinol Laryngol. 2015;124:94S-99S. PMID:25743179

  76. Nishio SY, Watanabe M, Hayashi Y, Usami SI,. Clinical application of a Custom AmpliSeq™ Library and Ion Torrent PGM™ Sequencing to comprehensive mutation screening for deafness genes. Genetic Testing and Molecular Biomarkers. 2015. 19(4):209-17. PMID:25587757

  77. Tsukada K, Fukuoka H, Usami S. Vestibular functions of hereditary hearing loss patients with GJB2 mutations. Audiol Neurootol. 2015;20(3):147-152. PMID:25824904

  78. Abe S, Nagano M, Nishio SY, Kumakawa K, Usami S. High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene. Otol Neurotol. 2014. 35(6):1087-90. PMID:24770403

  79. Ishikawa K, Naito T, Nishio SY, Iwasa Y, Nakamura K, Usami S, Ichimura K. A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations. Acta Otolaryngol. 2014. 134(6):557-563. PMID:24655070

  80. Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS One. 2014. 9(3):e90688. PMID:24618850

  81. Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. J Hum Genet. 2014. 59(5):262-268. PMID:24599119

  82. Yano T, Nishio SY, Usami S; Deafness Gene Study Consortium. Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening. J Hum Genet. 2014. 59(2):100-106. PMID:24401907

  83. Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H,Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdai ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet 2014;95(4):445-453. PMID:25262649

  84. Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 2013. 8(10):e75793. PMID:24130743

  85. Iwasa Y, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S. OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. BMC Med Genet. 2013. 14:95. PMID:24053799 

  86. Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S. Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One. 2013. 8(8):e71381. PMID:23967202

  87. Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. PLoS One. 2013. 8(5):e63231. PMID:23717403 

  88. Yoshimura H, Iwasaki S, Kanda Y, Nakanishi H, Murata T, Iwasa Y, Nishio SY, Takumi Y, Usami S. An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. Int J Pediatr Otorhinolaryngol. 2013. 77(2):298-302. PMID:23237960

  89. Yano T, Ichinose A, Nishio S, Kobayasi Y, Sato H, Usami S. A Novel Mutation of MYO15A Associated with Hearing Loss in a Japanese Family. J Clin Case REP. 2013. 3: 2-4. LINK

  90. Usami S, Miyagawa, Suzuki N, Nishio S. Genetics and presbycusis – monogenic form of age related hearing impairment caused by CDH23 mutations. J. Hearing Science. 2012. 2:1-4. LINK

  91. Miyagawa M, Nishio SY, Usami S. Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One. 2012. 7(8):e40366. PMID:22899989

  92. Moteki H, Nishio SY, Hashimoto S, Takumi Y, Iwasaki S, Takeichi N, Fukuda S, Usami S. TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion. J Hum Genet. 2012. 57(9):587-592. PMID:22718023

  93. Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T; Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One. 2012. 7(2):e31276. PMID:22384008

  94. Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N. Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. Clin Genet. 2012. 82(6):514-520. PMID:22288654

​

Hearing implants and related science

  1. Usami SI, Takumi Y, Yoshimura H, Nishio SY. Use of the FLEX 28 Dexamethasone-Eluting Cochlear Implant Electrode in Electric-Acoustic Stimulation: A Case Report. Audiol Res. 2025;15(5):112. PMID: 40981391

  2. Ueda N, Yotsuyanagi T, Yamashita K, Yoshimura H, Takumi Y, Takahashi M, Iwasaki S, Yuzuriha S, Usami SI. A novel incision design for Vibrant SoundBridge®︎ implantation prior to auricular reconstruction for microtia. PLoS One. 2025;20(7):e0327240. PMID: 40729330

  3. Yoshimura H, Takumi Y, Nishio SY, Usami SI. Enhanced Cochlear Coverage and Hearing Preservation in High-Frequency Hearing Loss via Electric Acoustic Stimulation with Longer Electrode. J Vis Exp. 2024;(212). PMID: 39465961

  4. Yoshimura H, Watanabe K, Nishio SY, Takumi Y, Usami SI. Determining optimal cochlear implant electrode array with OTOPLAN. Acta Otolaryngol. 2023;143(9):748-752. PMID: 37737708 

  5. Shinagawa J, Yoshimura H, Nishio SY, Takumi Y, Usami SI. The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation. Acta Otolaryngol. 2023;143(5):402-407. PMID: 37083037 ​

  6. Kitoh R, Takumi Y, Nishio SY, Usami SI. Sound localization in patients with idiopathic sudden hearing loss. Acta Otolaryngol. 2023;143(1):43-48. PMID:36661486

  7. Kitoh R, Nishio SY, Usami SI. Speech perception in noise in patients with idiopathic sudden hearing loss. Acta Otolaryngol. 2022;142(3-4):302-307. PMID:35621147

  8. 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. Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases. Acta Otolaryngol. 2022;142(3-4):308-315. PMID:35481391

  9. Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T. Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up. Auris Nasus Larynx. 2022;49(2):308-312. PMID:32980210

  10. Topsakal V, Agrawal S, Atlas M, Baumgartner WD, Brown K, Bruce IA, Dazert S, Hagen R, Lassaletta L, Mlynski R, Raine CH, Rajan GP, Schmutzhard J, Sprinzl GM, Staecker H, Usami SI, Van Rompaey V, Zernotti M, Heyning PV. Minimally Traumatic Cochlear Implant Surgery: Expert Opinion in 2010 and 2020. J Pers Med. 2022;12(10):1551. PMID:36294690

  11. Van de Heyning PH, Dazert S, Gavilan J, Lassaletta L, Lorens A, Rajan GP, Skarzynski H, Skarzynski PH, Tavora-Vieira D, Topsakal V, Usami SI, Van Rompaey V, Weiss NM, Polak M. Systematic Literature Review of Hearing Preservation Rates in Cochlear Implantation Associated With Medium- and Longer-Length Flexible Lateral Wall Electrode Arrays. Front Surg. 2022;9:893839. PMID:36034377

  12. Van de Heyning P, Roland P, Lassaletta L, Agrawal S, Atlas M, Baumgartner WD, Brown K, Caversaccio M, Dazert S, Gstoettner W, Hagen R, Hagr A, Jablonski GE, Kameswaran M, Kuzovkov V, Leinung M, Li Y, Loth A, Magele A, Mlynski R, Mueller J, Parnes L, Radeloff A, Raine C, Rajan G, Schmutzhard J, Skarzynski H, Skarzynski PH, Sprinzl G, Staecker H, Stöver T, Tavora-Viera D, Topsakal V, Usami SI, Van Rompaey V, Weiss NM, Wimmer W, Zernotti M, Gavilan J. Suitable Electrode Choice for Robotic-Assisted Cochlear Implant Surgery: A Systematic Literature Review of Manual Electrode Insertion Adverse Events. Front Surg. 2022;9:823219. PMID:35402479

  13. Nishio SY, Tono T, Iwaki T, Moteki H, Suzuki K, Tsushima Y, Kashio A, Akamatsu Y, Sato H, Yaegashi K, Takeda H, Kumagai F, Nakashima T, Matsuda Y, Hato N, Dairoku T, Shiroma M, Kawai R, Usami SI. Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable). Acta Otolaryngol. 2021;141(3):267-272. PMID:33320029

  14. Yoshimura H, Nishio SY, Usami SI. Milestones toward cochlear gene therapy for patients with hereditary hearing loss. Laryngoscope Investig Otolaryngol. 2021;6(5):958-967. PMID:34693000

  15. Tsukada K, Usami SI. Vestibular Preservation After Cochlear Implantation Using the Round Window Approach. Front Neurol. 2021;12:656592. PMID:33986720

  16. Yoshimura H, Takahashi M, Iwasaki S, Shinagawa J, Takashimizu I, Nagai F, Yotsuyanagi T, Usami SI. Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia-atresia. Clin Case Rep. 2021;9(8):e04408. PMID:34429978

  17. van de Heyning P, Mertens G, Topsakal V, de Brito R, Wimmer W, Caversaccio MD, Dazert S, Volkenstein S, Zernotti M, Parnes LS, Staecker H, Bruce IA, Rajan G, Atlas M, Friedland P, Skarzynski PH, Sugarova S, Kuzovkov V, Hagr A, Mlynski R, Schmutzhard J, Usami SI, Lassaletta L, Gavilán J, Godey B, Raine CH, Hagen R, Sprinzl GM, Brown K, Baumgartner WD, Karltorp E. Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients. Eur Arch Otorhinolaryngol. 2021;278(11):4225-4233. PMID:33788034

  18. Moteki H, Kitoh R, Usami SI. The availability of an adhesive bone conduction hearing device: a preliminary report of a single-center experience. Acta Otolaryngol. 2020;140(4):319-326. PMID:32141794

  19. Yoshimura H, Moteki H, Nishio SY, Usami SI. Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing. Acta Otolaryngol. 2020;140(8):632-638. PMID:32498646

  20. Yoshimura H, Moteki H, Nishio SY, Miyajima H, Miyagawa M, Usami SI. Genetic testing has the potential to impact hearing preservation following cochlear implantation. Acta Otolaryngol. 2020;140(6):438-444. PMID:32134349

  21. Usami SI, Nishio SY, Moteki H, Miyagawa M, Yoshimura H. Cochlear Implantation From the Perspective of Genetic Background. Anat Rec (Hoboken). 2020;303(3):563-593. PMID:32027099

  22. Miyake K, Shirai K, Nishiyama N, Kawaguchi S, Ohta Y, Kawano A, Usami SI, Kitano T, Tsukahara K. Cochlear implantation in a patient with a POU4F3 mutation. Clin Case Rep. 2020;9(1):298-303. PMID:33489177​

  23. Van de Heyning P, Atlas M, Baumgartner WD, Caversaccio M, Gavilan J, Godey B, Gstöttner W, Hagen R, Yongxin L, Karltorp E, Kameswaran M, Kuzovkov V, Lassaletta L, Manoj M, Parnes L, Pillsbury H, Raine C, Rajan G, Schmutzhard J, Skarzynski H, Staecker H, Usami SI, Zernotti M. The reliability of hearing implants: report on the type and incidence of cochlear implant failures. Cochlear Implants Int. 2020;21(4):228-237. PMID:32156201

  24. Moteki H, Nishio SY, Miyagawa M, Tsukada K, Noguchi Y, Usami SI. Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes. Acta Otolaryngol. 2018;138(12):1080-1085. PMID:30702034

  25. Moteki H, Fujinaga Y, Goto T, Usami SI. Pneumolabyrinth, intracochlear and vestibular fluid loss after cochlear implantation. Auris Nasus Larynx. 2018;45(5):1116-1120. PMID:29680680

  26. Takahashi M, Arai Y, Sakuma N, Yabuki K, Sano D, Nishimura G, Oridate N, Usami SI. Cochlear volume as a predictive factor for residual-hearing preservation after conventional cochlear implantation. Acta Otolaryngol. 2018;138(4):345-350. PMID:29148288

  27. Rajan G, Tavora-Vieira D, Baumgartner WD, Godey B, Müller J, O'Driscoll M, Skarzynski H, Skarzynski P, Usami SI, Adunka O, Agrawal S, Bruce I, De Bodt M, Caversaccio M, Pilsbury H, Gavilán J, Hagen R, Hagr A, Kameswaran M, Karltorp E, Kompis M, Kuzovkov V, Lassaletta L, Yongxin L, Lorens A, Manoj M, Martin J, Mertens G, Mlynski R, Parnes L, Pulibalathingal S, Radeloff A, Raine CH, Rajeswaran R, Schmutzhard J, Sprinzl G, Staecker H, Stephan K, Sugarova S, Zernotti M, Zorowka P, Van de Heyning P. Hearing preservation cochlear implantation in children: The HEARRING Group consensus and practice guide. Cochlear Implants Int. 2018;19(1):1-13. PMID:29073844

  28. Nishio SY, Usami SI. Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review. Acta Otolaryngol. 2017 Jul;137(7):730-742. PMID:28498079

  29. Iwasaki S, Usami SI, Takahashi H, Kanda Y, Tono T, Doi K, Kumakawa K, Gyo K, Naito Y, Kanzaki S, Yamanaka N, Kaga K. Round window application of an active middle ear implant: A comparison with hearing aid usage in Japan. Otol Neurotol. 2017;38(6):e145-e151. PMID:28481780

  30. Moteki H, Nishio SY, Miyagawa M, Tsukada K, Iwasaki S, Usami SI. Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing. Acta Otolaryngol. 2017;137(5):516-521. PMID:27852135

  31. Kitoh R, Moteki H, Nishio S, Shinden S, Kanzaki S, Iwasaki S, Ogawa K, Usami S. The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports. Acta Otolaryngol. 2016;136:460-4. PMID:26882310

  32. Karino S, Usami S, Kumakawa K, Takahashi H, Tono T, Naito Y, Doi K, Ito K, Suzuki M, Sakata H, Takumi Y, Iwasaki S, Kakigi A, Yamasoba T. Discrimination of Japanese monosyllables in patients with high-frequency hearing loss. Auris Nasus Larynx 2016;43(3):269-280. PMID:26607067

  33. Miyagawa M, Nishio SY, Usami S. A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology. Otol Neurotol. 2016;37:e126-34. PMID:26756145

  34. Van de Heyning P, Távora-Vieira D, Mertens G, Van Rompaey V, Rajan GP, Müller J, Hempel JM, Leander D, Polterauer D, Marx M, Usami SI, Kitoh R, Miyagawa M, Moteki H, Smilsky K, Baumgartner WD, Keintzel TG, Sprinzl GM, Wolf-Magele A, Arndt S, Wesarg T, Zirn S, Baumann U, Weissgerber T, Rader T, Hagen R, Kurz A, Rak K, Stokroos R, George E, Polo R, Medina MDM, Henkin Y, Hilly O, Ulanovski D, Rajeswaran R, Kameswaran M, Di Gregorio MF, Zernotti ME. Towards a Unified Testing Framework for Single-Sided Deafness Studies: A Consensus Paper. Audiol Neurootol. 2016;21(6):391-398. PMID:28319951

  35. Moteki H, Kitoh R, Tsukada K, Iwasaki S, Nishio SY, Usami SI. The advantages of sound localization and speech perception of bilateral electric acoustic stimulation. Acta Otolaryngol. 2015 Feb;135(2):147-53. PMID:25423260

  36. Matsumoto N, Takumi Y, Cho B, Mori K, Usami S, Yamashita M, hashizume M, Komune S. Template-guided implantation of the Bonebridge: clinaical experience. Eur Arch Otorhinolaryngol. 2015;272(12):3669–3675. PMID:25524644

  37. Gavilan J, Adunka O, Agrawal S, Atlas M, Baumgartner WD, Brill S, Bruce I, Buchman C, Caversaccio M, De Bodt MT, Dillon M, Godey B, Green K, Gstoettner W, Hagen R, Hagr A, Han D, Kameswaran M, Karltorp E, Kompis M, Kuzovkov V, Lassaletta L, Li Y, Lorens A, Martin J, Manoj M, Mertens G, Mlynski R, Mueller J, O'Driscoll M, Parnes L, Pulibalathingal S, Radeloff A, Raine CH, Rajan G, Rajeswaran R, Schmutzhard J, Skarzynski H, Skarzynski P, Sprinzl G, Staecker H, Stephan K, Sugarova S, Tavora D, Usami S, Yanov Y, Zernotti M, Zorowka P, de Heyning PV. Quality standards for bone conduction implants. Acta Otolaryngol. 2015;135(12):1277-85. PMID:26223816

  38. Takumi Y, Nishio SY, Mugridge K, Oguchi T, Hashimoto S, Suzuki N, Iwasaki S, Jolly C, Usami S. Gene expression pattern after insertion of dexamethasone-eluting electrode into the Guinea pig cochlea. PLoS One. 2014. 9(10):e110238. PMID:25329543

  39. Usami S, Moteki H, Tsukada K, Miyagawa M, Nishio SY, Takumi Y, Iwasaki S, Kumakawa K, Naito Y, Takahashi H, Kanda Y, Tono T. Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries. Acta Otolaryngol. 2014. 134(7):717-727. PMID:24834939

  40. Moteki H, Suzuki M, Naito Y, Fujiwara K, Oguchi K, Nishio SY, Iwasaki S, Usami S. Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection. Int J Pediatr Otorhinolaryngol. 2014. 78(2):285-289. PMID:24370468

  41. Takumi Y, Matsumoto N, Cho B, Ono H, Mori K, Tsukada K, Ichinose A, Yoshimura H, Iwasaki S, Komune S, Usami S. A clinical experience of 'STAMP' plate-guided Bonebridge implantation. Acta Otolaryngol. 2014;134(10):1042-6. PMID:25115972

  42. Iwasaki S, Sano H, Nishio S, Takumi Y, Okamoto M, Usami S, Ogawa K. Hearing handicap in adults with unilateral deafness and bilateral hearing loss. Otol Neurotol. 2013. 34(4):644-649. PMID:23657210

  43. Tsukada K, Moteki H, Fukuoka H, Iwasaki S, Usami S. Effects of EAS cochlear implantation surgery on vestibular function. Acta Otolaryngol. 2013;133(11):1128-1132. PMID:24007563

  44. Skarzynski H, van de Heyning P, Agrawal S, Arauz SL, Atlas M, Baumgartner W, Caversaccio M, de Bodt M, Gavilan J, Godey B, Green K, Gstoettner W, Hagen R, Han DM, Kameswaran M, Karltorp E, Kompis M, Kuzovkov V, Lassaletta L, Levevre F, Li Y, Manikoth M, Martin J, Mlynski R, Mueller J, O'Driscoll M, Parnes L, Prentiss S, Pulibalathingal S, Raine CH, Rajan G, Rajeswaran R, Rivas JA, Rivas A, Skarzynski PH, Sprinzl G, Staecker H, Stephan K, Usami S, Yanov Y, Zernotti ME, Zimmermann K, Lorens A, Mertens G. Towards a consensus on a hearing preservation classification system. Acta Otolaryngol Suppl. 2013;(564):3-13. PMID:24328756

  45. Van de Heyning P, Adunka O, Arauz SL, Atlas M, Baumgartner WD, Brill S, Bruce I, Buchman C, Caversaccio M, Dillon M, Eikelboom R, Eskilsson G, Gavilan J, Godey B, Green K, Gstoettner W, Hagen R, Han D, Iwasaki S, Kameswaran M, Karltorp E, Kleine Punte A, Kompis M, Kuthubutheen J, Kuzovkov V, Lassaletta L, Li Y, Lorens A, Manikoth M, Martin J, Mlynski R, Mueller J, O'Driscoll M, Parnes L, Pillsbury H, Prentiss S, Pulibalathingal S, Raine CH, Rajan G, Rajeswaran R, Riechelmann H, Rivas A, Rivas JA, Senn P, Skarzynski PH, Sprinzl G, Staecker H, Stephan K, Sugarova S, Usami SI, Wolf-Magele A, Yanov Y, Zernotti ME, Zimmerman K, Zorowka P, Skarzynski H. Standards of practice in the field of hearing implants. Cochlear Implants Int. 2013;14 Suppl 2:S1-5. PMID:23764325

  46. Usami S, Miyagawa M, Nishio SY, Moteki H, Takumi Y, Suzuki M, Kitano Y, Iwasaki S. Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS). Acta Otolaryngol. 2012. 132(4):377-384. PMID:22443853

  47. Iwasaki S, Nishio S, Moteki H, Takumi Y, Fukushima K, Kasai N, Usami S. Language development in Japanese children who receive cochlear implant and/or hearing aid. Int J Pediatr Otorhinolaryngol. 2012. 76(3):433-8. PMID:22281374

  48. Fujiyoshi A, Fukushima K, Taguchi T, Omori K, Kasai N, Nishio S, Sugaya A, Nagayasu R, Konishi T, Sugishita S, Fujita J, Nishizaki K, Shiroma M. Syntactic development in Japanese hearing-impaired children. Ann Otol Rhinol Laryngol Suppl. 2012;202: 28-34. PMID:22616277

  49. Iwasaki S, Suzuki H, Moteki H, Miyagawa M, Takumi Y, Usami S. Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis. Acta Otolaryngol. 2012;132(6):676-82. PMID:22385350

  50. Moteki H, Naito Y, Fujiwara K, Kitoh R, Nishio SY, Oguchi K, Takumi Y, Usami S. Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations. Acta Otolaryngol. 2011;131(11):1232-6. PMID:21728752

  51. Usami S, Moteki H, Suzuki N, Fukuoka H, Miyagawa M, Nishio SY, Takumi Y, Iwasaki S, Jolly C. Achievement of hearing preservation in the presence of an electrode covering the residual hearing region. Acta Otolaryngol. 2011 Apr;131(4):405-412. PMID:21208024

  52. Usami S, Miyagawa M, Suzuki N, Moteki H, Nishio S, Takumi Y, Iwasaki S: Genetic background of candidates for EAS (Electric-Acoustic Stimulation). Audiological Medicine. 2010. 8:28-32. LINK

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Basic science, Bioinformatics, Epidemiological survey

  1. Steinacher C, Nishio SY, Usami SI, Dudas J, Rieder D, Rask-Andersen H, Crespo B, Moreno N, Konschake M, Seifarth C, Glueckert R. Expression of Neurotrophins and Its Receptors During Fetal Development in the Human Cochlea. Int J Mol Sci. 2024;25(23):13007.  PMID: 39684722

  2. Kitoh R, Nishio SY, Sato H, Ikezono T, Morita S, Wada T, Usami SI; Research Group on Intractable Hearing Disorders and Japan Audiological Society. Clinical practice guidelines for the diagnosis and management of acute sensorineural hearing loss. Auris Nasus Larynx. 2024;51(4):811-821. PMID: 38968877

  3. Arai D, Takahashi-Shibata M, Ukaji T, Tsutsumi H, Tajima S, Nishio SY, Ishikawa KI, Akamatsu W, Matsumoto F, Ikeda K, Usami SI, Kamiya K. Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23. Stem Cell Res. 2024;79:103471. PMID: 38878669

  4.  Steinacher C, Rieder D, Turner JE, Solanky N, Nishio SY, Usami SI, Hausott B, Schrott-Fischer A, Dudas J. Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue. Int J Mol Sci. 2024;25(5):2907. PMID: 38474154 ​

  5. Ito S, Takakura H, Akaogi K, Shojaku H, Kitahara T, Nishio SY, Usami SI; Intractable Hearing Disorder Consortium. Estimated number and prevalence of patients with delayed endolymphatic hydrops in Japan: a nationwide survey. Acta Otolaryngol. 2022;142(9-12):675-678. PMID:36519274

  6. Ito S, Takakura H, Akaogi K, Shojaku H, Takeda N, Suzuki M, Watanabe Y, Aoki M, Doi K, Ikezono T, Kakigi A, Kitahara T, Koizuka I, Murofushi T, Naganuma H, Omori K, Takahashi K, Takumida M, Usami SI, Yamashita H. A 14-year nationwide epidemiological analysis of delayed endolymphatic hydrops in Japan. Acta Otolaryngol. 2022;142(7-8):568-574. PMID:35984435

  7. Kasuga M, Yoshimura H, Shinagawa J, Nishio SY, Takumi Y, Usami SI. Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children. Acta Otolaryngol. 2021;141(12):1038-1043. PMID:34825622

  8. Tsukada K, Usami SI. Vestibular nerve deficiency and vestibular function in children with unilateral hearing loss caused by cochlear nerve deficiency. Acta Otolaryngol. 2021;141(9):835-840. PMID:34406114

  9. Okawa Y, Okanari K, Hirano N, Kawano T, Nishio S, Usami S, Maeda T, Ihara K. Unilateral Sensorineural Hearing Loss in Children Associated With Sjögren's Syndrome. Cureus. 2021;13(10):e18832. PMID:34804687

  10. Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K. A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. Medicine (Baltimore). 2020;99(19):e19763. PMID:32384426

  11. Kitoh R, Nishio SY, Usami SI. Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort. Acta Otolaryngol. 2020;140(1):32-39. PMID:31738639

  12. Matsuda H, Tanzawa Y, Sekine T, Matsumura T, Saito S, Shindo S, Usami SI, Kase Y, Itoh A, Ikezono T. Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms. Front Neurol. 2020;11:585747. PMID:33240208

  13. Yamada Y, Maruyama M, Kita T, Usami SI, Kitajiri SI, Harashima H. The use of a MITO-Porter to deliver exogenous therapeutic RNA to a mitochondrial disease's cell with a A1555G mutation in the mitochondrial 12S rRNA gene results in an increase in mitochondrial respiratory activity. Mitochondrion. 2020;55:134-144. PMID:33035688

  14. Nishio SY, Moteki H, Usami SI. Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel. Mol Genet Genomic Med. 2018;6:678-686. PMID:29633566

  15. Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI. A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening. Acta Otolaryngol.2018;138:708-712. PMID:29513124

  16. Iwasa YI, Tsukada K, Kobayashi M, Kitano T, Mori K, Yoshimura H, Fukuoka H, Usami SI. Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI. PLoS One. 2018;13(12):e0206891. PMID:30517123

  17. Ikezono T, Matsumura T, Matsuda H, Shikaze S, Saitoh S, Shindo S, Hasegawa S, Oh SH, Hagiwara Y, Ogawa Y, Ogawa H, Sato H, Tono T, Araki R, Maeda Y, Usami SI, Kase Y. The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage. PLoS One. 2018;13(1):e0191498. PMID:29377910

  18. Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, Sato H, Usami SI, Yamasoba T, Yokoyama T, Kitamura K. A nationwide study on enlargement of the vestibular aqueduct in Japan. Auris Nasus Larynx. 2017;44(1):33-39. PMID:27160786

  19. Wada T, Sano H, Nishio SY, Kitoh R, Ikezono T, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Suzuki M, Takahashi H, Tono T, Yamashita H, Hara A, Usami SI. Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis. Acta Otolaryngol. 2017;137(sup565):S48-S52. PMID:28394667

  20. Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI. Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan. Acta Otolaryngol. 2017;137(sup565):S8-S16. PMID:28394652

  21. Matsuda H, Sakamoto K, Matsumura T, Saito S, Shindo S, Fukushima K, Nishio SY, Kitoh R, Shibasaki O, Ito A, Araki R, Usami SI, Suzuki M, Ogawa K, Hasegawa T, Hagiwara Y, Kase Y, Ikezono T. A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases. Acta Otolaryngol. 2017;137(sup565):S53-S59. PMID:28368720

  22. Yoshida T, Sone M, Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI. Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan. Acta Otolaryngol. 2017;137(sup565):S38-S43. PMID:28366083

  23. Umesawa M, Kobashi G, Kitoh R, Nishio SY, Ogawa K, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI. Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients. Acta Otolaryngol. 2017;137(sup565):S17-S23. PMID:28366076

  24. Sato H, Kuwashima S, Nishio SY, Kitoh R, Fukuda S, Hara A, Hato N, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Ogawa K, Sano H, Sone M, Shojaku H, Takahashi H, Tono T, Yamashita H, Yamasoba T, Usami SI. Epidemiological survey of acute low-tone sensorineural hearing loss. Acta Otolaryngol. 2017;137(sup565):S34-S37. PMID:28366042

  25. Kitoh R, Nishio SY, Usami SI. Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss. Acta Otolaryngol. 2017;137(sup565):S24-S29. PMID:28366034

  26. Usami SI, Kitoh R, Moteki H, Nishio SY, Kitano T, Kobayashi M, Shinagawa J, Yokota Y, Sugiyama K, Watanabe K. Etiology of single-sided deafness and asymmetrical hearing loss. Acta Otolaryngol. 2017;137(sup565):S2-S7. PMID:28366032

  27. Okada M, Hato N, Nishio SY, Kitoh R, Ogawa K, Kanzaki S, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI. The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol. 2017;137(sup565):S30-S33. PMID:28359220

  28. Morita S, Fujiwara K, Fukuda A, Fukuda S, Nishio SY, Kitoh R, Hato N, Ikezono T, Ishikawa K, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nishizaki K, Ogawa K, Sano H, Sato H, Sone M, Suzuki M, Takahashi H, Tono T, Yamashita H, Yamasoba T, Usami SI. The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan. Acta Otolaryngol. 2017;137(sup565):S44-S47. PMID:28338374

  29. Nishio SY, Takumi Y, Usami SI. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res. 2017;348:87-97. PMID:28263850

  30. Nishio SY, Usami SI. The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. Hum Mutat. 2017;38:252-259. PMID:28008688

  31. Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S. SOD1 gene polymorphisms in sudden sensorineural hearing loss. Acta Otolaryngol. 2016;136(5):465-9. PMID:26882452

  32. 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. Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol.2016;55:52-7. PMID:26778145

  33. Nakagawa T, Yamamoto M, Kumakawa K, Usami S, Hato N, Tabuchi K, Takahashi M, Fujiwara K, Sasaki A, Komune S, Yamamoto N, Hiraumi H, Sakamoto T, Shimizu A, Ito J. Prognostic impact of salvage treatment on hearing recovery in patients with sudden sensorineural hearing loss refractory to systemic corticosteroids: A retrospective observational study. Auris Nasus Larynx. 2016;43(5):489-94. PMID:26739948​

  34. Suzuki N, Okamura K, Yano T, Moteki H, Kitoh R, Takumi Y, Usami S. Silicone impression material foreign body in the middle ear: Two case reports and literature review. Auris Nasus Larynx. 2015;42(5):419-23. PMID:25956272​

  35. Nakagawa T, Kumakawa K, Usami S, Hato N, Tabuchi K, Takahashi M, Fujiwara K, Sasaki A, Komune S, Sakamoto T, Hiraumi H, Yamamoto N, Tanaka S, Tada H, Yamamoto M, Yonezawa A, Ito-Ihara T, Ikeda T, Shimizu A, Tabata Y, Ito J. A randomized controlled clinical trial of topical insulin-like growth factor-1 therapy for sudden deafness refractory to systemic corticosteroid treatment. BMC Med. 2014;12:219. PMID:25406953​

  36. Yoshimura H, Takumi Y, Nishio SY, Suzuki N, Iwasa Y, Usami S. Deafness gene expression patterns in the mouse cochlea found by microarray analysis. PLoS One. 2014. 9(3):e92547. PMID:24676347

  37. Tian G, Sawashita J, Kubo H, Nishio SY, Hashimoto S, Suzuki N, Yoshimura H, Tsuruoka M, Wang Y, Liu Y, Luo H, Xu Z, Mori M, Kitano M, Hosoe K, Takeda T, Usami S, Higuchi K. Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice. Antioxid Redox Signal. 2014．20(16):2606-2620. PMID:24124769

  38. Furutate S, Iwasaki S, Nishio SY, Moteki H, Usami S. Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord. Acta Otolaryngol. 2011. 131(9):976-82. PMID:21612560

Mountain science, Phylogeny

  1. Isaka Y, Nisho SY, Usami SI. Updated genetic structure of endangered butterfly Shijimiaeoides dicinus (Lepidoptera: Lycaenidae) population in Japan. New Entomological Science. 2022 in press.

  2. Usami SI, Isaka Y, Nisho SY, Nakatani T, Itoh T. Phylogeny and biogeography of arctic-alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae). Entomological Science. 2021;1-13. LINK

  3. Nakatani T, Ueda S, Nishio SY, Usami SI. Origin and Phylogeography of the Alpine Butterflies in the Japanese Archipelago, Inferred from Mitochondrial DNA. Butterfly Science. 2020;16:26-45.

  4. Nakatani T, Ueda S, Nishio SY, Usami SI. Molecular Phylogeny of the Genus Erebia (Lepidoptera, Nymphalidae, Satyrinae): Species Groups Inferred from Mitochondrial and Nucleus Gene Sequences. Butterfly Science. 2018;12:27-48.

  5. Nakatani T, Ueda S, Nishio SY, Usami SI. Introgressive Hybridization of the Erebia ligea Complex (Lepidoptera, Nymphalidae) in the Far Eastern Region. Butterfly Science. 2018;11:26-37.

Department of Hearing Implant Sciences

​Shinshu University School of Medicine

3-1-1 Asahi Matsumoto Nagano JAPAN 390-8621

©2022 Department of Hearing Implant Sciences, Shinshu University School of Medicine

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