{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:56:10Z","timestamp":1791046570330,"version":"4.1.0"},"reference-count":37,"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":["2016YFC0901505"],"award-info":[{"award-number":["2016YFC0901505"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81501850"],"award-info":[{"award-number":["81501850"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7212005"],"award-info":[{"award-number":["7212005"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["L212035"],"award-info":[{"award-number":["L212035"]}],"id":[{"id":"10.13039\/501100004826","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.2023.117743","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T11:45:24Z","timestamp":1703677524000},"page":"117743","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy"],"prefix":"10.1016","volume":"553","author":[{"given":"Jinli","family":"Bai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujin","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenchen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanli","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahan","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenqi","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwei","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiping","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.cca.2023.117743_b0005","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet. J. Rare. Dis."},{"issue":"9630","key":"10.1016\/j.cca.2023.117743_b0010","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.cca.2023.117743_b0015","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/gt.2017.52","article-title":"The clinical landscape for SMA in a new therapeutic era","volume":"24","author":"Talbot","year":"2017","journal-title":"Gene. Ther."},{"issue":"7","key":"10.1016\/j.cca.2023.117743_b0020","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1136\/jmg-2022-108873","article-title":"Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis","volume":"60","author":"Abiusi","year":"2023","journal-title":"J. Med. Genet."},{"issue":"10063","key":"10.1016\/j.cca.2023.117743_b0025","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"issue":"7","key":"10.1016\/j.cca.2023.117743_b0030","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/sj.ejhg.5201821","article-title":"Population screening and cascade testing for carriers of SMA","volume":"15","author":"Smith","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.cca.2023.117743_b0035","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","article-title":"Differences in SMN1 allele frequencies among ethnic groups within North America","volume":"46","author":"Hendrickson","year":"2009","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.cca.2023.117743_b0040","doi-asserted-by":"crossref","DOI":"10.1038\/s41572-022-00380-8","article-title":"Spinal muscular atrophy","volume":"8","author":"Mercuri","year":"2022","journal-title":"Nat. Rev. Dis. Primers."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0045","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1086\/301608","article-title":"De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling","volume":"61","author":"Wirth","year":"1997","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0050","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.jmoldx.2016.05.004","article-title":"Mutation spectrum of the survival of motor neuron 1 and functional analysis of variants in chinese spinal muscular atrophy","volume":"18","author":"Qu","year":"2016","journal-title":"J. Mol. Diagn."},{"issue":"2","key":"10.1016\/j.cca.2023.117743_b0055","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s004390000446","article-title":"Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome","volume":"108","author":"Mailman","year":"2001","journal-title":"Hum. Genet."},{"issue":"2","key":"10.1016\/j.cca.2023.117743_b0060","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/gim.2013.84","article-title":"An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy","volume":"16","author":"Luo","year":"2014","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.cca.2023.117743_b0065","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.ajhg.2023.01.001","article-title":"Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing","volume":"110","author":"Chen","year":"2023","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.cca.2023.117743_b0070","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.cca.2023.117743_b0075","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"7","key":"10.1016\/j.cca.2023.117743_b0080","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1097\/GIM.0b013e318220d523","article-title":"Technical standards and guidelines for spinal muscular atrophy testing","volume":"13","author":"Prior","year":"2011","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.cca.2023.117743_b0085","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00439-019-01983-0","article-title":"Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype","volume":"138","author":"Ruhno","year":"2019","journal-title":"Hum. Genet."},{"issue":"14","key":"10.1016\/j.cca.2023.117743_b0090","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","article-title":"A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy","volume":"26","author":"Wu","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.cca.2023.117743_b0095","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/humu.24200","article-title":"Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients","volume":"42","author":"Blasco-Perez","year":"2021","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.cca.2023.117743_b0100","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","article-title":"A positive modifier of spinal muscular atrophy in the SMN2 gene","volume":"85","author":"Prior","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.cca.2023.117743_b0105","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.cca.2023.117743_b0110","unstructured":"Writing Group For Practice Guidelines For Diagnosis and Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, J. Pan, H. Tan, M. Zhou, D. Liang, L. Wu, [Clinical practice guidelines for spinal muscular atrophy], Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi. 37(3) (2020) 263-268. https:\/\/doi.org\/10.3760\/cma.j.issn.1003-9406.2020.03.007."},{"issue":"12","key":"10.1016\/j.cca.2023.117743_b0115","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.nmd.2006.08.011","article-title":"Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy","volume":"16","author":"Arkblad","year":"2006","journal-title":"Neuromuscul. Disord."},{"issue":"4","key":"10.1016\/j.cca.2023.117743_b0120","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10048-006-0051-3","article-title":"Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification","volume":"7","author":"Scarciolla","year":"2006","journal-title":"Neurogenetics"},{"issue":"13","key":"10.1016\/j.cca.2023.117743_b0125","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1039\/c1lc20126c","article-title":"Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR","volume":"11","author":"Zhong","year":"2011","journal-title":"Lab. Chip."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0130","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.20092","article-title":"Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations","volume":"24","author":"Clermont","year":"2004","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0135","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/jhg.2015.16","article-title":"A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing","volume":"60","author":"Kubo","year":"2015","journal-title":"J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0140","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.nmd.2023.03.001","article-title":"Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy","volume":"33","author":"Bai","year":"2023","journal-title":"Neuromuscul. Disord."},{"issue":"7","key":"10.1016\/j.cca.2023.117743_b0145","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1238","article-title":"Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a\u20135 in SMN1 undetectable with routine genetic testing","volume":"8","author":"Jedlickova","year":"2020","journal-title":"Mol. Genet. Genomic. Med."},{"issue":"8","key":"10.1016\/j.cca.2023.117743_b0150","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/gim.2016.215","article-title":"The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing","volume":"19","author":"Feng","year":"2017","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.cca.2023.117743_b0155","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/s41431-020-00714-8","article-title":"NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study","volume":"29","author":"Zhao","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.cca.2023.117743_b0160","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.jmoldx.2022.05.001","article-title":"Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing","volume":"24","author":"Li","year":"2022","journal-title":"J. Mol. Diagn."},{"issue":"5","key":"10.1016\/j.cca.2023.117743_b0165","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."},{"issue":"7","key":"10.1016\/j.cca.2023.117743_b0170","doi-asserted-by":"crossref","first-page":"100346","DOI":"10.1016\/j.xcrm.2021.100346","article-title":"Spinal muscular atrophy: From approved therapies to future therapeutic targets for personalized medicine","volume":"2","author":"Chaytow","year":"2021","journal-title":"Cell. Rep. Med."},{"issue":"8","key":"10.1016\/j.cca.2023.117743_b0175","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1007\/s12035-017-0831-9","article-title":"Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy","volume":"55","author":"Govoni","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.cca.2023.117743_b0180","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. Pediatr."},{"issue":"3","key":"10.1016\/j.cca.2023.117743_b0185","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1053\/j.semperi.2015.03.006","article-title":"Newborn screening for spinal muscular atrophy: Anticipating an imminent need","volume":"39","author":"Phan","year":"2015","journal-title":"Semin. Perinatol."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123005454?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123005454?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T20:05:10Z","timestamp":1762113910000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898123005454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":37,"alternative-id":["S0009898123005454"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2023.117743","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":"A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2023.117743","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":"117743"}}