{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T07:24:02Z","timestamp":1744615442639,"version":"3.37.3"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100002531","name":"Kyungpook National University","doi-asserted-by":"publisher","award":["Kyungpook National University"],"award-info":[{"award-number":["Kyungpook National University"]}],"id":[{"id":"10.13039\/501100002531","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s13258-022-01357-3","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T08:02:47Z","timestamp":1673424167000},"page":"225-230","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS"],"prefix":"10.1007","volume":"45","author":[{"given":"Ye-Ri","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye-Min","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byeonghyeon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong-In","family":"Baek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyu-Yup","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Joon","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Un-Kyung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,1,11]]},"reference":[{"key":"1357_CR1","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/gt.2017.77","volume":"24","author":"F Carrasco-Ramiro","year":"2017","unstructured":"Carrasco-Ramiro F, Peiro-Pastor R, Aguado B (2017) Human genomics projects and precision medicine. Gene Ther 24:551\u2013561","journal-title":"Gene Ther"},{"key":"1357_CR2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/nrn1828","volume":"7","author":"R Fettiplace","year":"2006","unstructured":"Fettiplace R, Hackney CM (2006) The sensory and motor roles of auditory hair cells. Nat Rev Neurosci 7:19\u201329","journal-title":"Nat Rev Neurosci"},{"key":"1357_CR3","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/nature11632","volume":"491","author":"C Genomes Project","year":"2012","unstructured":"Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1092 human genomes. Nature 491:56\u201365","journal-title":"Nature"},{"key":"1357_CR4","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1167\/iovs.09-4032","volume":"51","author":"D Gibbs","year":"2010","unstructured":"Gibbs D, Diemer T, Khanobdee K, Hu J, Bok D, Williams DS (2010) Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B. Invest Ophthalmol Vis Sci 51:1130\u20131135","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1357_CR5","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1186\/gb-2011-12-9-228","volume":"12","author":"C Gilissen","year":"2011","unstructured":"Gilissen C, Hoischen A, Brunner HG, Veltman JA (2011) Unlocking mendelian disease using exome sequencing. Genome Biol 12:228","journal-title":"Genome Biol"},{"key":"1357_CR6","doi-asserted-by":"publisher","first-page":"9815","DOI":"10.1073\/pnas.92.21.9815","volume":"92","author":"T Hasson","year":"1995","unstructured":"Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A 92:9815\u20139819","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1357_CR7","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1083\/jcb.137.6.1287","volume":"137","author":"T Hasson","year":"1997","unstructured":"Hasson T, Gillespie PG, Garcia JA, MacDonald RB, Zhao Y, Yee AG, Mooseker MS, Corey DP (1997) Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137:1287\u20131307","journal-title":"J Cell Biol"},{"key":"1357_CR8","doi-asserted-by":"publisher","first-page":"5478","DOI":"10.1074\/jbc.M210489200","volume":"278","author":"A Inoue","year":"2003","unstructured":"Inoue A, Ikebe M (2003) Characterization of the motor activity of mammalian myosin VIIA. J Biol Chem 278:5478\u20135487","journal-title":"J Biol Chem"},{"key":"1357_CR9","doi-asserted-by":"publisher","first-page":"1886","DOI":"10.1167\/iovs.08-3122","volume":"50","author":"SG Jacobson","year":"2009","unstructured":"Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ (2009) Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci 50:1886\u20131894","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1357_CR10","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1016\/j.ijporl.2008.05.007","volume":"72","author":"KY Lee","year":"2008","unstructured":"Lee KY, Choi SY, Bae JW, Kim S, Chung KW, Drayna D, Kim UK, Lee SH (2008) Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in korean deafness patients. Int J Pediatr Otorhinolaryngol 72:1301\u20131309","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1357_CR11","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1093\/hmg\/6.1.111","volume":"6","author":"G Levy","year":"1997","unstructured":"Levy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD et al (1997) Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 6:111\u2013116","journal-title":"Hum Mol Genet"},{"key":"1357_CR12","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1080\/00016489.2017.1397743","volume":"138","author":"L Li","year":"2018","unstructured":"Li L, Yuan H, Wang H, Guan J, Lan L, Wang D, Zong L, Liu Q, Han B, Huang D et al (2018) Identification of a MYO7A mutation in a large chinese DFNA11 family and genotype-phenotype review for DFNA11. Acta Otolaryngol 138:463\u2013470","journal-title":"Acta Otolaryngol"},{"key":"1357_CR13","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.heares.2012.01.004","volume":"288","author":"X Lin","year":"2012","unstructured":"Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q (2012) Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res 288:67\u201376","journal-title":"Hear Res"},{"key":"1357_CR14","first-page":"120","volume":"61","author":"XZ Liu","year":"2002","unstructured":"Liu XZ (2002) The clinical presentation of DFNB2. Adv Otorhinolaryngol 61:120\u2013123","journal-title":"Adv Otorhinolaryngol"},{"key":"1357_CR15","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s00439-004-1137-3","volume":"115","author":"MW Luijendijk","year":"2004","unstructured":"Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H (2004) Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 115:149\u2013156","journal-title":"Hum Genet"},{"key":"1357_CR16","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.ijporl.2016.01.001","volume":"83","author":"Y Ma","year":"2016","unstructured":"Ma Y, Xiao Y, Zhang F, Han Y, Li J, Xu L, Bai X, Wang H (2016) Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a chinese family. Int J Pediatr Otorhinolaryngol 83:179\u2013185","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1357_CR17","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/j.1749-6632.1991.tb19572.x","volume":"630","author":"NE Morton","year":"1991","unstructured":"Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16\u201331","journal-title":"Ann N Y Acad Sci"},{"key":"1357_CR18","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton CC, Nance WE (2006) Newborn hearing screening\u2013a silent revolution. N Engl J Med 354:2151\u20132164","journal-title":"N Engl J Med"},{"key":"1357_CR19","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/jhg.2013.114","volume":"59","author":"B Rabbani","year":"2014","unstructured":"Rabbani B, Tekin M, Mahdieh N (2014) The promise of whole-exome sequencing in medical genetics. J Hum Genet 59:5\u201315","journal-title":"J Hum Genet"},{"key":"1357_CR20","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1111\/j.1749-6632.2010.05868.x","volume":"1214","author":"D Raviv","year":"2010","unstructured":"Raviv D, Dror AA, Avraham KB (2010) Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci 1214:168\u2013179","journal-title":"Ann N Y Acad Sci"},{"key":"1357_CR21","doi-asserted-by":"publisher","first-page":"e55178","DOI":"10.1371\/journal.pone.0055178","volume":"8","author":"Q Sang","year":"2013","unstructured":"Sang Q, Yan X, Wang H, Feng R, Fei X, Ma D, Xing Q, Li Q, Zhao X, Jin L et al (2013) Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PLoS ONE 8:e55178","journal-title":"PLoS ONE"},{"key":"1357_CR22","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) Mutation taster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361\u2013362","journal-title":"Nat Methods"},{"key":"1357_CR23","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1002\/humu.22332","volume":"34","author":"B Sikkema-Raddatz","year":"2013","unstructured":"Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD et al (2013) Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 34:1035\u20131042","journal-title":"Hum Mutat"},{"key":"1357_CR24","doi-asserted-by":"publisher","first-page":"e32000","DOI":"10.1371\/journal.pone.0032000","volume":"7","author":"A Sirmaci","year":"2012","unstructured":"Sirmaci A, Edwards YJ, Akay H, Tekin M (2012) Challenges in whole exome sequencing: an example from hereditary deafness. PLoS ONE 7:e32000","journal-title":"PLoS ONE"},{"key":"1357_CR25","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","volume":"365","author":"RJ Smith","year":"2005","unstructured":"Smith RJ, Bale JF Jr, White KR (2005) Sensorineural hearing loss in children. Lancet 365:879\u2013890","journal-title":"Lancet"},{"key":"1357_CR26","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1093\/hmg\/5.6.849","volume":"5","author":"Y Tamagawa","year":"1996","unstructured":"Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M (1996) A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet 5:849\u2013852","journal-title":"Hum Mol Genet"},{"key":"1357_CR27","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/ajmg.1335","volume":"101","author":"ZB Zina","year":"2001","unstructured":"Zina ZB, Masmoudi S, Ayadi H, Chaker F, Ghorbel AM, Drira M, Petit C (2001) From DFNB2 to Usher syndrome: variable expressivity of the same disease. Am J Med Genet 101:181\u2013183","journal-title":"Am J Med Genet"}],"container-title":["Genes &amp; Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01357-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13258-022-01357-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01357-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T05:33:36Z","timestamp":1674279216000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13258-022-01357-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,11]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["1357"],"URL":"https:\/\/doi.org\/10.1007\/s13258-022-01357-3","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"type":"print","value":"1976-9571"},{"type":"electronic","value":"2092-9293"}],"subject":[],"published":{"date-parts":[[2023,1,11]]},"assertion":[{"value":"24 November 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 December 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 January 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}