{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T17:06:30Z","timestamp":1784739990950,"version":"3.55.0"},"reference-count":55,"publisher":"American Medical Association (AMA)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"DOI":"10.1001\/jamanetworkopen.2022.20986","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T15:01:10Z","timestamp":1657551670000},"page":"e2220986","source":"Crossref","is-referenced-by-count":20,"title":["Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit"],"prefix":"10.1001","volume":"5","author":[{"given":"Yunqian","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Neonatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyuan","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laishuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yulan","family":"Lu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinran","family":"Dong","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiantian","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"},{"name":"Key Laboratory of Birth Defects, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"},{"name":"Key Laboratory of Neonatal Diseases, Ministry of Health, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"},{"name":"Key Laboratory of Birth Defects, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"},{"name":"Key Laboratory of Neonatal Diseases, Ministry of Health, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"issue":"10036","key":"zoi220603r1","doi-asserted-by":"publisher","first-page":"2351","DOI":"10.1016\/S0140-6736(16)30777-2","article-title":"Hearing loss: an important global health concern.","volume":"387","year":"2016","journal-title":"Lancet"},{"issue":"2","key":"zoi220603r2","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1542\/peds.103.2.527","article-title":"Newborn and infant hearing loss: detection and intervention: American Academy of Pediatrics: Task Force on Newborn and Infant Hearing, 1998-1999.","volume":"103","author":"Erenberg","year":"1999","journal-title":"Pediatrics"},{"issue":"10","key":"zoi220603r3","doi-asserted-by":"publisher","first-page":"2239","DOI":"10.1038\/s41436-019-0487-0","article-title":"ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.","volume":"21","author":"DiStefano","year":"2019","journal-title":"Genet Med"},{"issue":"10186","key":"zoi220603r4","doi-asserted-by":"publisher","first-page":"2106","DOI":"10.1016\/S0140-6736(19)30484-2","article-title":"A Lancet commission to address the global burden of hearing loss.","volume":"393","author":"Wilson","year":"2019","journal-title":"Lancet"},{"issue":"10111","key":"zoi220603r5","doi-asserted-by":"publisher","first-page":"2414","DOI":"10.1016\/S0140-6736(17)33097-0","article-title":"Hearing loss: time for sound action.","volume":"390","year":"2017","journal-title":"Lancet"},{"issue":"10100","key":"zoi220603r6","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1016\/S0140-6736(17)32154-2","article-title":"Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.","volume":"390","author":"GBD 2016 Disease and Injury Incidence and Prevalence Collaborators","year":"2017","journal-title":"Lancet"},{"issue":"4","key":"zoi220603r7","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1542\/peds.2007-2333","article-title":"Year 2007 position statement: principles and guidelines for early hearing detection and intervention programs.","volume":"120","author":"American Academy of Pediatrics, Joint Committee on Infant Hearing","year":"2007","journal-title":"Pediatrics"},{"issue":"10113","key":"zoi220603r8","doi-asserted-by":"publisher","first-page":"2626","DOI":"10.1016\/S0140-6736(17)32410-8","article-title":"Timely sensory stimulation and early childhood development.","volume":"390","author":"Olusanya","year":"2017","journal-title":"Lancet"},{"issue":"21","key":"zoi220603r9","doi-asserted-by":"publisher","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":"10111","key":"zoi220603r10","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1016\/S0140-6736(17)31073-5","article-title":"Global hearing health care: new findings and perspectives.","volume":"390","author":"Wilson","year":"2017","journal-title":"Lancet"},{"issue":"11","key":"zoi220603r11","doi-asserted-by":"publisher","first-page":"2614","DOI":"10.1038\/s41436-019-0563-5","article-title":"A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.","volume":"21","author":"Shearer","year":"2019","journal-title":"Genet Med"},{"key":"zoi220603r12","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6151973","article-title":"Hearing screening combined with target gene panel testing increased etiological diagnostic yield in deaf children.","volume":"2021","author":"Xie","year":"2021","journal-title":"Neural Plast"},{"issue":"2","key":"zoi220603r13","doi-asserted-by":"publisher","first-page":"116","DOI":"10.5222\/MMJ.2020.68466","article-title":"The prevalence of hearing loss among babies in the neonatal intensive care unit in a tertiary hospital in Malaysia.","volume":"35","author":"Abdullah","year":"2020","journal-title":"Medeni Med J"},{"issue":"2","key":"zoi220603r14","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1159\/000500316","article-title":"Risk factors and prognostic factors of hearing impairment in neonatal intensive care unit\u2013treated infants.","volume":"24","author":"Umehara","year":"2019","journal-title":"Audiol Neurootol"},{"issue":"3","key":"zoi220603r15","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1111\/apa.2010.99.issue-3","article-title":"Risk indicators for hearing loss in infants treated in different neonatal intensive care units.","volume":"99","author":"van Dommelen","year":"2010","journal-title":"Acta Paediatr"},{"issue":"6","key":"zoi220603r16","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1177\/0145561319840578","article-title":"An analysis of risk factors in unilateral versus bilateral hearing loss.","volume":"98","author":"Howell","year":"2019","journal-title":"Ear Nose Throat J"},{"issue":"2","key":"zoi220603r17","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1055\/s-0038-1648217","article-title":"Hearing assessment of neonates at risk for hearing loss at a hearing health high complexity service: an electrophysiological assessment.","volume":"23","author":"Reis","year":"2019","journal-title":"Int Arch Otorhinolaryngol"},{"key":"zoi220603r18","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.637096","article-title":"Multi-center in-depth screening of neonatal deafness genes: Zhejiang, China.","volume":"12","author":"Cai","year":"2021","journal-title":"Front Genet"},{"issue":"1","key":"zoi220603r19","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1111\/cch.v46.1","article-title":"Hearing screening outcome in neonatal intensive care unit graduates from a tertiary care centre in Singapore.","volume":"46","author":"Jayagobi","year":"2020","journal-title":"Child Care Health Dev"},{"issue":"1","key":"zoi220603r20","doi-asserted-by":"publisher","first-page":"31","DOI":"10.5935\/0946-5448.20190006","article-title":"Sensorineural hearing loss in newborns hospitalized in neonatal intensive care unit: an observational study.","volume":"23","author":"Stadio","year":"2019","journal-title":"Int Tinnitus J"},{"issue":"20","key":"zoi220603r21","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014a silent revolution.","volume":"354","author":"Morton","year":"2006","journal-title":"N Engl J Med"},{"issue":"4","key":"zoi220603r22","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1007\/s00439-020-02118-6","article-title":"Concurrent hearing and genetic screening in a general newborn population.","volume":"139","author":"Guo","year":"2020","journal-title":"Hum Genet"},{"issue":"4","key":"zoi220603r23","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/j.ajhg.2019.09.003","article-title":"Concurrent hearing and genetic screening of 180,469 neonates with follow-up in Beijing, China.","volume":"105","author":"Dai","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"10","key":"zoi220603r24","doi-asserted-by":"publisher","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":"2","key":"zoi220603r25","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1044\/1059-0889(2013\/12-0078)","article-title":"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"},{"key":"zoi220603r26","doi-asserted-by":"publisher","first-page":"28","DOI":"10.21037\/pm","article-title":"Protocol of the China Neonatal Genomes Project: an observational study about genetic testing on 100,000 neonates.","volume":"4","author":"Xiao","year":"2021","journal-title":"Pediatr Med"},{"issue":"10104","key":"zoi220603r27","doi-asserted-by":"publisher","first-page":"1770","DOI":"10.1016\/S0140-6736(17)31002-4","article-title":"Neonatal sepsis.","volume":"390","author":"Shane","year":"2017","journal-title":"Lancet"},{"issue":"1","key":"zoi220603r28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0170691","article-title":"Asphyxia in the newborn: evaluating the accuracy of ICD coding, clinical diagnosis and reimbursement: observational study at a Swiss tertiary care center on routinely collected health data from 2012-2015.","volume":"12","author":"Endrich","year":"2017","journal-title":"PLoS One"},{"issue":"7","key":"zoi220603r29","first-page":"481","article-title":"Guidelines for neonatal resuscitation in China (revised 2016 in Beijing).","volume":"19","author":"Project EgoCNR","year":"2016","journal-title":"Chin J Perinat Med"},{"issue":"10306","key":"zoi220603r30","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1016\/S0140-6736(21)00883-7","article-title":"Community-acquired bacterial meningitis.","volume":"398","author":"van de Beek","year":"2021","journal-title":"Lancet"},{"issue":"3","key":"zoi220603r31","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/s41436-018-0091-8","article-title":"Clinical and genetic spectrum of a large cohort of children with epilepsy in China.","volume":"21","author":"Yang","year":"2019","journal-title":"Genet Med"},{"issue":"5","key":"zoi220603r34","doi-asserted-by":"publisher","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":"zoi220603r35","doi-asserted-by":"publisher","journal-title":"Bull World Health Organ","DOI":"10.2471\/BLT.19.230367"},{"issue":"13","key":"zoi220603r36","doi-asserted-by":"publisher","first-page":"2784","DOI":"10.3390\/jcm10132784","article-title":"Outcomes of universal newborn screening programs: systematic review.","volume":"10","author":"Yoshinaga-Itano","year":"2021","journal-title":"J Clin Med"},{"issue":"4","key":"zoi220603r37","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2020-048702","article-title":"Reading proficiency trends following newborn hearing screening implementation.","volume":"148","author":"Yoshinaga-Itano","year":"2021","journal-title":"Pediatrics"},{"issue":"1","key":"zoi220603r38","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1038\/gim.2016.66","article-title":"Newborn genetic screening for hearing impairment: a population-based longitudinal study.","volume":"19","author":"Wu","year":"2017","journal-title":"Genet Med"},{"issue":"4","key":"zoi220603r39","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1016\/j.ijporl.2015.01.033","article-title":"Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.","volume":"79","author":"Chu","year":"2015","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"zoi220603r40","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/3103986","article-title":"Targeted next-generation sequencing of a deafness gene panel (MiamiOtoGenes) analysis in families unsuitable for linkage analysis.","volume":"2018","author":"Shang","year":"2018","journal-title":"Biomed Res Int"},{"issue":"12","key":"zoi220603r41","doi-asserted-by":"publisher","first-page":"1663","DOI":"10.1038\/s41436-018-0004-x","article-title":"Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.","volume":"20","author":"Sheppard","year":"2018","journal-title":"Genet Med"},{"issue":"16","key":"zoi220603r42","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders.","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"issue":"18","key":"zoi220603r43","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing.","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"issue":"11","key":"zoi220603r44","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1038\/s41436-021-01242-6","article-title":"Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).","volume":"23","author":"Manickam","year":"2021","journal-title":"Genet Med"},{"issue":"4","key":"zoi220603r45","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1016\/j.ajhg.2020.08.001","article-title":"Genomic sequencing for newborn screening: results of the NC NEXUS Project.","volume":"107","author":"Roman","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"6","key":"zoi220603r46","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/gim.2015.141","article-title":"Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing\u2013based diagnostic testing and interpretation.","volume":"18","author":"Abou Tayoun","year":"2016","journal-title":"Genet Med"},{"issue":"10","key":"zoi220603r47","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1097\/CCM.0000000000005052","article-title":"Application of full-spectrum rapid clinical genome sequencing improves diagnostic rate and clinical outcomes in critically ill infants in the China Neonatal Genomes Project.","volume":"49","author":"Wu","year":"2021","journal-title":"Crit Care Med"},{"issue":"9462","key":"zoi220603r48","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","article-title":"Sensorineural hearing loss in children.","volume":"365","author":"Smith","year":"2005","journal-title":"Lancet"},{"issue":"1","key":"zoi220603r49","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s12920-021-00906-1","article-title":"A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.","volume":"14","author":"Yang","year":"2021","journal-title":"BMC Med Genomics"},{"issue":"5","key":"zoi220603r50","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1111\/j.1399-0004.2010.01407.x","article-title":"A large cohort study of GJB2 mutations in Japanese hearing loss patients.","volume":"78","author":"Tsukada","year":"2010","journal-title":"Clin Genet"},{"issue":"11","key":"zoi220603r51","doi-asserted-by":"publisher","first-page":"2442","DOI":"10.1038\/s41436-019-0535-9","article-title":"Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.","volume":"21","author":"Shen","year":"2019","journal-title":"Genet Med"},{"issue":"2","key":"zoi220603r52","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.gene.2015.06.038","article-title":"Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.","volume":"570","author":"Dai","year":"2015","journal-title":"Gene"},{"issue":"4","key":"zoi220603r53","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1111\/cge.2015.87.issue-4","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":"1","key":"zoi220603r54","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.gene.2013.08.094","article-title":"GJB2-associated hearing loss undetected by hearing screening of newborns.","volume":"532","author":"Minami","year":"2013","journal-title":"Gene"},{"key":"zoi220603r55","doi-asserted-by":"publisher","journal-title":"JAMA Netw Open","DOI":"10.1001\/jamanetworkopen.2021.25544"},{"key":"zoi220603r32","unstructured":"Hereditary Hearing Loss Homepage. Accessed May 31, 2022. https:\/\/hereditaryhearingloss.org\/"},{"key":"zoi220603r33","unstructured":"Online Mendelian Inheritance in Man. Phenotypic series titles. Accessed May 31, 2022. https:\/\/omim.org\/phenotypicSeriesTitles\/all"}],"container-title":["JAMA Network Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/articlepdf\/2794121\/zhu_2022_oi_220603_1656698667.99977.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T15:01:14Z","timestamp":1657551674000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2794121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,11]]},"references-count":55,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamanetworkopen.2022.20986","relation":{},"ISSN":["2574-3805"],"issn-type":[{"value":"2574-3805","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,11]]}}}