{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:06:13Z","timestamp":1786989973970,"version":"build-2736575974"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["23J31900100"],"award-info":[{"award-number":["23J31900100"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["23Y11909700"],"award-info":[{"award-number":["23Y11909700"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82225014"],"award-info":[{"award-number":["82225014"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82301318"],"award-info":[{"award-number":["82301318"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82225014,82301318"],"award-info":[{"award-number":["82225014,82301318"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003024","name":"Shanghai Education Development Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003395","name":"Shanghai Municipal Education Commission","doi-asserted-by":"publisher","award":["2023ZKZD12"],"award-info":[{"award-number":["2023ZKZD12"]}],"id":[{"id":"10.13039\/501100003395","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003395","name":"Shanghai Municipal Education Commission","doi-asserted-by":"publisher","award":["23CGA08"],"award-info":[{"award-number":["23CGA08"]}],"id":[{"id":"10.13039\/501100003395","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Hearing Research"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.heares.2025.109455","type":"journal-article","created":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:44:54Z","timestamp":1760661894000},"page":"109455","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing"],"prefix":"10.1016","volume":"468","author":[{"given":"Weitao","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sha","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biyun","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luo","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilai","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.heares.2025.109455_bib0025","doi-asserted-by":"crossref","first-page":"e4","DOI":"10.1017\/S001667231500004X","article-title":"Whole-exome sequencing and its impact in hereditary hearing loss","volume":"97","author":"Atik","year":"2015","journal-title":"Genet. Res. (Camb)"},{"issue":"3\u20134","key":"10.1016\/j.heares.2025.109455_bib0019","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s00439-021-02421-w","article-title":"Genetic etiology of hearing loss in Iran","volume":"141","author":"Babanejad","year":"2022","journal-title":"Hum. Genet."},{"issue":"5","key":"10.1016\/j.heares.2025.109455_bib0012","doi-asserted-by":"crossref","first-page":"e311","DOI":"10.1097\/AUD.0000000000000325","article-title":"Progressive hearing loss in early childhood","volume":"37","author":"Barreira-Nielsen","year":"2016","journal-title":"Ear Hear."},{"issue":"5","key":"10.1016\/j.heares.2025.109455_bib0028","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/humu.1116","article-title":"Pendred syndrome, DFNB4, and PDS\/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations","volume":"17","author":"Campbell","year":"2001","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.heares.2025.109455_bib0024","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1111\/cge.12387","article-title":"The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes","volume":"87","author":"Chai","year":"2015","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.heares.2025.109455_bib0027","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1089\/gtmb.2009.0054","article-title":"Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians","volume":"13","author":"Choi","year":"2009","journal-title":"Genet Test Mol. Biomarker."},{"issue":"6","key":"10.1016\/j.heares.2025.109455_bib0020","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.2741\/4046","article-title":"Autosomal recessive nonsyndromic deafness genes: a review","volume":"17","author":"Duman","year":"2012","journal-title":"Front. Biosci. (Landmark Ed)"},{"issue":"11","key":"10.1016\/j.heares.2025.109455_bib0021","doi-asserted-by":"crossref","first-page":"e2052","DOI":"10.1002\/mgg3.2052","article-title":"Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review","volume":"10","author":"Elsayed","year":"2022","journal-title":"Mol. Genet. Genomic. Med."},{"issue":"9491","key":"10.1016\/j.heares.2025.109455_bib0014","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/S0140-6736(05)67423-5","article-title":"Presbycusis","volume":"366","author":"Gates","year":"2005","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.heares.2025.109455_bib0029","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-019-0942-4","article-title":"Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF","volume":"21","author":"Khalil","year":"2020","journal-title":"BMC Med. Genet."},{"issue":"21","key":"10.1016\/j.heares.2025.109455_bib0002","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1001\/jama.2020.17647","article-title":"Hearing loss in children: a review","volume":"324","author":"Lieu","year":"2020","journal-title":"JAMA"},{"issue":"2","key":"10.1016\/j.heares.2025.109455_bib0005","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1044\/1059-0889(2013\/12-0078)","article-title":"Pediatrix SoundGene Study Group Principal I, contributors: utility of genetic testing for the detection of late-onset hearing loss in neonates","volume":"22","author":"Lim","year":"2013","journal-title":"Am. J. Audiol."},{"issue":"20","key":"10.1016\/j.heares.2025.109455_bib0015","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1001\/archinternmed.2011.506","article-title":"Hearing loss prevalence in the United States","volume":"171","author":"Lin","year":"2011","journal-title":"Arch. Intern. Med."},{"key":"10.1016\/j.heares.2025.109455_bib0023","doi-asserted-by":"crossref","DOI":"10.1016\/j.heares.2020.108135","article-title":"GJB2 mutation spectrum in the Taiwanese population and genotype-phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations","volume":"413","author":"Lin","year":"2022","journal-title":"Hear Res."},{"issue":"2","key":"10.1016\/j.heares.2025.109455_bib0006","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1080\/16513860301713","article-title":"Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment","volume":"1","author":"M","year":"2003","journal-title":"Audiol. Med."},{"issue":"9","key":"10.1016\/j.heares.2025.109455_bib0031","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0162230","article-title":"Social Health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients","volume":"11","author":"Mori","year":"2016","journal-title":"PLoS One."},{"issue":"20","key":"10.1016\/j.heares.2025.109455_bib0003","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2013a silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.heares.2025.109455_bib0008","doi-asserted-by":"crossref","DOI":"10.3390\/genes11030273","article-title":"Clinical characteristics and In vitro analysis of MYO6 variants causing late-onset progressive hearing loss","volume":"11","author":"Oka","year":"2020","journal-title":"Genes (Basel)"},{"issue":"6","key":"10.1016\/j.heares.2025.109455_bib0007","doi-asserted-by":"crossref","first-page":"2811","DOI":"10.1007\/s00405-021-06976-2","article-title":"A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss","volume":"279","author":"Pan","year":"2022","journal-title":"Eur. Arch. Otorhinolaryngol."},{"issue":"3\u20134","key":"10.1016\/j.heares.2025.109455_bib0030","first-page":"915","article-title":"Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation","volume":"141","author":"Rim","year":"2021","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.heares.2025.109455_bib0017","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss","volume":"135","author":"Sloan-Heggen","year":"2016","journal-title":"Hum. Genet."},{"issue":"1","key":"10.1016\/j.heares.2025.109455_bib0009","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1097\/AUD.0000000000000734","article-title":"Genetic inheritance of late-onset, down-sloping hearing loss and its implications for auditory rehabilitation","volume":"41","author":"Song","year":"2020","journal-title":"Ear Hear."},{"issue":"4","key":"10.1016\/j.heares.2025.109455_bib0004","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/s10038-021-00990-2","article-title":"Genetic background in late-onset sensorineural hearing loss patients","volume":"67","author":"Uehara","year":"2022","journal-title":"J. Hum. Genet."},{"issue":"3\u20134","key":"10.1016\/j.heares.2025.109455_bib0018","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-021-02371-3","article-title":"The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients","volume":"141","author":"Usami","year":"2022","journal-title":"Hum. Genet."},{"key":"10.1016\/j.heares.2025.109455_bib0010","article-title":"Phenotypic heterogeneity of post-lingual and\/or milder hearing loss for the patients with the GJB2 c.235delC homozygous mutation","volume":"9","author":"Wang","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.heares.2025.109455_bib0013","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijporl.2020.110131","article-title":"Current status of universal newborn hearing screening program at 26 institutions in China","volume":"138","author":"Wen","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.heares.2025.109455_bib0001","series-title":"Deafness and Hearing Loss","year":"2024"},{"issue":"10","key":"10.1016\/j.heares.2025.109455_bib0022","doi-asserted-by":"crossref","DOI":"10.3390\/genes10100772","article-title":"Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population","volume":"10","author":"Wu","year":"2019","journal-title":"Genes (Basel)"},{"issue":"11","key":"10.1016\/j.heares.2025.109455_bib0011","doi-asserted-by":"crossref","DOI":"10.3390\/genes12111711","article-title":"A KCNQ4 c.546C>G genetic variant associated with late onset non-syndromic hearing loss in a Taiwanese population","volume":"12","author":"Yen","year":"2021","journal-title":"Genes (Basel)"},{"issue":"2","key":"10.1016\/j.heares.2025.109455_bib0016","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/s41431-019-0510-6","article-title":"Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls","volume":"28","author":"Yuan","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.heares.2025.109455_bib0026","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.3109\/00016489.2013.822555","article-title":"Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome","volume":"133","author":"Zhao","year":"2013","journal-title":"Acta. Otolaryngol."}],"container-title":["Hearing Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378595525002734?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378595525002734?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T17:00:27Z","timestamp":1778691627000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378595525002734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":31,"alternative-id":["S0378595525002734"],"URL":"https:\/\/doi.org\/10.1016\/j.heares.2025.109455","relation":{},"ISSN":["0378-5955"],"issn-type":[{"value":"0378-5955","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing","name":"articletitle","label":"Article Title"},{"value":"Hearing Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.heares.2025.109455","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"109455"}}