{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T11:17:32Z","timestamp":1792495052692,"version":"4.5.0"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC1005303"],"award-info":[{"award-number":["2021YFC1005303"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.cca.2023.117693","type":"journal-article","created":{"date-parts":[[2023,12,5]],"date-time":"2023-12-05T03:52:59Z","timestamp":1701748379000},"page":"117693","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Next\u2010generation sequencing for genetic testing of hearing loss populations"],"prefix":"10.1016","volume":"552","author":[{"given":"Lulu","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingyuan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huasha","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuguo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3348-629X","authenticated-orcid":false,"given":"Jingjing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengfeng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2023.117693_b0005","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1056\/NEJMra0911225","article-title":"Profound Deafness in Childhood","volume":"363","author":"Kral","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2023.117693_b0010","doi-asserted-by":"crossref","first-page":"e0219600","DOI":"10.1371\/journal.pone.0219600","article-title":"Prevalence of permanent childhood hearing loss detected at the universal newborn hearing screen: Systematic review and meta-analysis","volume":"14","author":"Butcher","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/j.cca.2023.117693_b0015","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1016\/j.ijporl.2013.08.038","article-title":"Newborn hearing concurrent genetic screening for hearing impairment\u2014a clinical practice in 58,397 neonates in Tianjin, China","volume":"77","author":"Zhang","year":"2013","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.cca.2023.117693_b0020","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1086\/324122","article-title":"At the Speed of Sound: Gene Discovery in the Auditory System","volume":"69","author":"Resendes","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0025","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn Hearing Screening \u2014 A Silent Revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2023.117693_b0030","doi-asserted-by":"crossref","first-page":"16094","DOI":"10.1038\/nrdp.2016.94","article-title":"Congenital hearing loss","volume":"3","author":"Korver","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.cca.2023.117693_b0035","doi-asserted-by":"crossref","unstructured":"F. Chen, W. Ni, W. Li, H. Li, Cochlear Implantation and Rehabilitation, in: H. Li, R. Chai (Eds.), Hearing Loss: Mechanisms, Prevention and Cure, Springer Singapore, Singapore, 2019: pp. 129\u2013144. 10.1007\/978-981-13-6123-4_8.","DOI":"10.1007\/978-981-13-6123-4_8"},{"key":"10.1016\/j.cca.2023.117693_b0040","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2023.117693_b0045","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2023.147397","article-title":"Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia","volume":"869","author":"Wang","year":"2023","journal-title":"Gene"},{"key":"10.1016\/j.cca.2023.117693_b0050","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1097\/MAO.0000000000002234","article-title":"Systematic Review of Hearing Loss Genes in the African American Population","volume":"40","author":"Worden","year":"2019","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.cca.2023.117693_b0055","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00439-021-02323-x","article-title":"Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries","volume":"141","author":"Mutery","year":"2022","journal-title":"Hum. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0060","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijporl.2019.109756","article-title":"Next generation sequencing and genetics of hereditary hearing loss in the iranian population: New insights from a systematic review","volume":"129","author":"Koohiyan","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.cca.2023.117693_b0065","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s12920-018-0375-5","article-title":"Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients","volume":"11","author":"Cabanillas","year":"2018","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.cca.2023.117693_b0070","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/cge.13817","article-title":"Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1","volume":"98","author":"Brownstein","year":"2020","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0075","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."},{"key":"10.1016\/j.cca.2023.117693_b0080","doi-asserted-by":"crossref","first-page":"e1539","DOI":"10.1002\/mgg3.1539","article-title":"Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss","volume":"8","author":"Xiang","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"10.1016\/j.cca.2023.117693_b0085","doi-asserted-by":"crossref","first-page":"e14860","DOI":"10.1097\/MD.0000000000014860","article-title":"Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform","volume":"98","author":"Sun","year":"2018","journal-title":"Medicine"},{"key":"10.1016\/j.cca.2023.117693_b0090","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/j.1365-2516.2011.02621.x","article-title":"Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency","volume":"18","author":"Paraboschi","year":"2012","journal-title":"Haemophilia"},{"key":"10.1016\/j.cca.2023.117693_b0095","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: examples, detection, and confirmation","volume":"59","author":"Anna","year":"2018","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0100","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.brainresbull.2012.05.011","article-title":"The impact of missense mutations on human behavior","volume":"88","author":"Mohajeri","year":"2012","journal-title":"Brain Res. Bull."},{"key":"10.1016\/j.cca.2023.117693_b0105","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1080\/00016480701854727","article-title":"Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment","volume":"128","author":"G\u00fcrtler","year":"2008","journal-title":"Acta Otolaryngol."},{"key":"10.1016\/j.cca.2023.117693_b0110","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1038\/s41467-020-15198-9","article-title":"Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome","volume":"11","author":"Li","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.cca.2023.117693_b0115","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.ajhg.2009.04.014","article-title":"Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome","volume":"84","author":"Yang","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0120","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.jgg.2011.11.003","article-title":"A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II","volume":"38","author":"Yan","year":"2011","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.cca.2023.117693_b0125","doi-asserted-by":"crossref","first-page":"e3029","DOI":"10.1097\/MD.0000000000003029","article-title":"Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?","volume":"95","author":"Kim","year":"2016","journal-title":"Medicine"},{"key":"10.1016\/j.cca.2023.117693_b0130","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13023-020-1311-2","article-title":"Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations","volume":"15","author":"Yu","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.cca.2023.117693_b0135","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial Respiratory-Chain Diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2023.117693_b0140","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.3390\/diagnostics11122395","article-title":"Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment","volume":"11","author":"Chen","year":"2021","journal-title":"Diagnostics."},{"key":"10.1016\/j.cca.2023.117693_b0145","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":"J. Am. Med. Assoc."},{"key":"10.1016\/j.cca.2023.117693_b0150","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/j.ymthe.2023.02.001","article-title":"Advances in gene therapy hold promise for treating hereditary hearing loss","volume":"31","author":"Jiang","year":"2023","journal-title":"Mol. Ther."},{"key":"10.1016\/j.cca.2023.117693_b0155","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1093\/hmg\/ddv109","article-title":"Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness","volume":"24","author":"Iizuka","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0160","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.omtm.2018.11.003","article-title":"Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-Human Primate","volume":"13","author":"Gy\u00f6rgy","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.cca.2023.117693_b0165","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00439-022-02504-2","article-title":"Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin","volume":"142","author":"Tang","year":"2022","journal-title":"Hum. Genet."},{"key":"10.1016\/j.cca.2023.117693_b0170","doi-asserted-by":"crossref","first-page":"7184","DOI":"10.7150\/thno.38032","article-title":"Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing","volume":"9","author":"Kim","year":"2019","journal-title":"Theranostics."},{"key":"10.1016\/j.cca.2023.117693_b0175","doi-asserted-by":"crossref","first-page":"11106","DOI":"10.1016\/j.celrep.2022.111061","article-title":"Template-independent genome editing in the Pcdh15(av-3j) mouse, a model of human DFNB23 nonsyndromic deafness","volume":"40","author":"Liu","year":"2022","journal-title":"Cell Rep."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123004953?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123004953?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:15:40Z","timestamp":1757862940000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898123004953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":35,"alternative-id":["S0009898123004953"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2023.117693","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Next\u2010generation sequencing for genetic testing of hearing loss populations","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2023.117693","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"117693"}}