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Genetic Information and Precision Medicine in Hearing Loss

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참고문헌

참고문헌 (18)

  1. Morton CC, "Newborn hearing screening : a silent revolution", N Engl J Med, 354(20), pp.2151~2164 (2006)
  2. Smith RJ, "Sensorineural hearing loss in children", Lancet, 365(9462), pp.879~890 (2005)
  3. Kim NK, "Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population", Genet Med, 17(11), pp.901~911 (2015)
  4. Kim BJ, "Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach", Genet Med, 22(6), pp.1119~1128 (2020)
  5. Yongbo Yu, "Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct", Clinical and Experimental Otorhinolaryngology, 12(1), pp.50~57 (2019), 대한이비인후과학회[DOI]
  6. "Hereditary hearing loss homepage" (2020)[URL]
  7. 최수영, "Construction of a DNA Chip for Screening of Genetic Hearing Loss", Clinical and Experimental Otorhinolaryngology, 2(1), pp.44~47 (2009), 대한이비인후과학회
  8. Han KH, "Establishment of a flexible real-time polymerase chain reaction-based platform for detecting prevalent deafness mutations associated with variable degree of sensorineural hearing loss in Koreans", PLoS One, 11(9), pp.e0161756~ (2016)
  9. Shearer AE, "Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing", Proc Natl Acad Sci USA, 107(49), pp.21104~21109 (2010)
  10. Tang W, "A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach", Genet Test Mol Biomarkers, 16(6), pp.536~542 (2012)
  11. Rehman AU, "Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79", Am J Hum Genet, 86(3), pp.378~388 (2010)
  12. Nishio SY, "Outcomes of cochlear implantation for the patients with specific genetic etiologies : a systematic literature review", Acta Otolaryngol, 137(7), pp.730~742 (2017)
  13. Wu CC, "Identifying children with poor cochlear implantation outcomes using massively parallel sequencing", Medicine(Baltimore), 94(27), pp.e1073~ (2015)
  14. Han KH, "ATP1A3 mutations can cause progressive auditory neuropathy : a new gene of auditory synaptopathy", Sci Rep, 7(1), pp.16504~ (2017)
  15. Kim BJ, "Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans : eliciting reciprocal interaction between bench and clinics", J Transl Med, 16(1), pp.330~ (2018)
  16. Nakanishi H, "NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy", Proc Natl Acad Sci U S A, 114(37), pp.E7766~E7775 (2017)
  17. Kim BJ, "Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra", Rheumatology (Oxford) (2020)[DOI]
  18. Nist-Lund CA, "Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders", Nat Commun, 10(1), pp.236~ (2019)

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