{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:35:27Z","timestamp":1757612127060,"version":"3.44.0"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T00:00:00Z","timestamp":1751155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Practical Laboratory Medicine"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.plabm.2025.e00488","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T02:35:55Z","timestamp":1751423755000},"page":"e00488","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions"],"prefix":"10.1016","volume":"46","author":[{"given":"Yun","family":"Bao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pengyin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Quan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqun","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaobo","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"20","key":"10.1016\/j.plabm.2025.e00488_bib1","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."},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib2","doi-asserted-by":"crossref","DOI":"10.1186\/s13104-024-06793-w","article-title":"Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss","volume":"17","author":"Namba","year":"2024","journal-title":"BMC Res. Notes"},{"issue":"6","key":"10.1016\/j.plabm.2025.e00488_bib3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0128691","article-title":"GJB2 mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss","volume":"10","author":"Zheng","year":"2015","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00439-008-0602-9","article-title":"Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31","volume":"125","author":"Liu","year":"2008","journal-title":"Hum. Genet."},{"issue":"202","key":"10.1016\/j.plabm.2025.e00488_bib5","article-title":"Cellular and deafness mechanisms underlying connexin mutation-induced hearing Loss-A common hereditary deafness","volume":"9","author":"Wingard","year":"2015","journal-title":"Front. Cell. Neurosci."},{"issue":"12","key":"10.1016\/j.plabm.2025.e00488_bib6","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1097\/FPC.0000000000000247","article-title":"PharmGKB summary","volume":"26","author":"Barbarino","year":"2016","journal-title":"Pharmacogenet. Genom."},{"key":"10.1016\/j.plabm.2025.e00488_bib7","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2023.1163496","article-title":"Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness","volume":"14","author":"Vila-Sanjurjo","year":"2023","journal-title":"Front. Physiol."},{"issue":"7\u20138","key":"10.1016\/j.plabm.2025.e00488_bib8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s00335-014-9515-1","article-title":"Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness","volume":"25","author":"Dror","year":"2014","journal-title":"Mamm. Genome"},{"issue":"21","key":"10.1016\/j.plabm.2025.e00488_bib9","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232113453","article-title":"Selection of diagnostically significant regions of the SLC26A4 gene involved in hearing loss","volume":"23","author":"Danilchenko","year":"2022","journal-title":"Int. J. Mol. Sci."},{"issue":"11","key":"10.1016\/j.plabm.2025.e00488_bib10","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/s10038-022-01066-5","article-title":"Molecular diagnose of a large hearing loss population from China by targeted genome sequencing","volume":"67","author":"Wu","year":"2022","journal-title":"J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib11","doi-asserted-by":"crossref","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.plabm.2025.e00488_bib12","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1222324","article-title":"Newborn hearing screening program in China: a narrative review of the issues in screening and management","volume":"11","author":"Wen","year":"2023","journal-title":"Frontiers in Pediatrics"},{"issue":"9","key":"10.1016\/j.plabm.2025.e00488_bib13","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2021.25544","article-title":"Assessment of hearing screening combined with limited and expanded genetic screening for newborns in Nantong, China","volume":"4","author":"Zhu","year":"2021","journal-title":"JAMA Netw. Open"},{"issue":"10","key":"10.1016\/j.plabm.2025.e00488_bib14","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1038\/s41436-019-0481-6","article-title":"Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China","volume":"21","author":"Wang","year":"2019","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib15","doi-asserted-by":"crossref","DOI":"10.1186\/s40246-022-00449-1","article-title":"Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel","volume":"17","author":"Ma","year":"2023","journal-title":"Hum. Genom."},{"issue":"15","key":"10.1016\/j.plabm.2025.e00488_bib16","doi-asserted-by":"crossref","first-page":"3686","DOI":"10.3390\/cancers14153686","article-title":"The significance of external quality assessment schemes for molecular testing in clinical laboratories","volume":"14","author":"Laudus","year":"2022","journal-title":"Cancers"},{"issue":"9","key":"10.1016\/j.plabm.2025.e00488_bib17","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.5858\/arpa.2019-0478-CP","article-title":"Genotype and phenotype concordance for pharmacogenetic tests through proficiency survey testing","volume":"144","author":"Moyer","year":"2020","journal-title":"Arch. Pathol. Lab Med."},{"issue":"8","key":"10.1016\/j.plabm.2025.e00488_bib18","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1373\/clinchem.2016.254482","article-title":"Thirteen years of an international external quality assessment scheme for genotyping: results and recommendations","volume":"62","author":"Haselmann","year":"2016","journal-title":"Clin. Chem."},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-0037-1617454","article-title":"Syndromic hearing loss: a brief review of common presentations and genetics","volume":"7","author":"Gettelfinger","year":"2018","journal-title":"J. Pediatr. Genet."},{"issue":"6","key":"10.1016\/j.plabm.2025.e00488_bib20","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.jmoldx.2023.02.008","article-title":"Analysis of clinical laboratory detecting challenging variants from exome sequencing using simulated patient\u2013parent trio sample","volume":"25","author":"Zhang","year":"2023","journal-title":"J. Mol. Diagn."},{"issue":"2","key":"10.1016\/j.plabm.2025.e00488_bib21","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.22242","article-title":"External quality assessment for laboratory testing of HLA\u2010B\u221715:02 allele in relation to carbamazepine therapy","volume":"32","author":"Lin","year":"2017","journal-title":"J. Clin. Lab. Anal."},{"issue":"2","key":"10.1016\/j.plabm.2025.e00488_bib22","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/BF00284045","article-title":"Newborn screening by DNA analysis of dried blood spots","volume":"82","author":"Rubin","year":"1989","journal-title":"Hum. Genet."},{"key":"10.1016\/j.plabm.2025.e00488_bib23","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgmr.2024.101074","article-title":"Towards genomic-newborn screening: technical feasibility of exome sequencing starting from dried blood spots","volume":"39","author":"Mauri","year":"2024","journal-title":"Molecular Genetics and Metabolism Reports"},{"issue":"1","key":"10.1016\/j.plabm.2025.e00488_bib24","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1097\/MAO.0000000000002969","article-title":"Screening strategies for deafness genes and functional outcomes in cochlear implant patients","volume":"42","author":"Nisenbaum","year":"2021","journal-title":"Otol. Neurotol. : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology"},{"issue":"7","key":"10.1016\/j.plabm.2025.e00488_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.03.018","article-title":"Clinical evaluation and etiologic diagnosis of hearing loss: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"24","author":"Li","year":"2022","journal-title":"Genet. Med."}],"container-title":["Practical Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352551725000411?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352551725000411?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T07:41:40Z","timestamp":1756971700000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352551725000411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":25,"alternative-id":["S2352551725000411"],"URL":"https:\/\/doi.org\/10.1016\/j.plabm.2025.e00488","relation":{},"ISSN":["2352-5517"],"issn-type":[{"type":"print","value":"2352-5517"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions","name":"articletitle","label":"Article Title"},{"value":"Practical Laboratory Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.plabm.2025.e00488","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"e00488"}}