{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:35:35Z","timestamp":1787063735338,"version":"build-2736575974"},"reference-count":39,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T00:00:00Z","timestamp":1769472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1174145"],"award-info":[{"award-number":["1174145"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100025520","name":"Medical Research Future Fund","doi-asserted-by":"publisher","award":["MRF2007498"],"award-info":[{"award-number":["MRF2007498"]}],"id":[{"id":"10.13039\/501100025520","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014555","name":"Murdoch Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014555","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009983","name":"University of Cologne Center for Molecular Medicine Cologne","doi-asserted-by":"publisher","award":["C18"],"award-info":[{"award-number":["C18"]}],"id":[{"id":"10.13039\/501100009983","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017473","name":"Australian Genomics Health Alliance","doi-asserted-by":"publisher","award":["11501"],"award-info":[{"award-number":["11501"]}],"id":[{"id":"10.13039\/501100017473","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.ajhg.2026.01.012","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T15:59:10Z","timestamp":1770911950000},"page":"627-635","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5191","authenticated-orcid":false,"given":"Brunhilde","family":"Wirth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyosmita","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuxiang","family":"Goh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle A.","family":"Farrar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Piano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Zetzsche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico","family":"Fuhrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mert","family":"Karakaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yougang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afsaneh","family":"Taghipour-Sheshdeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett W.","family":"Stringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Giacomotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.01.012_bib1","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.ajhg.2026.01.012_bib2","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","article-title":"Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib3","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"},{"key":"10.1016\/j.ajhg.2026.01.012_bib4","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.tins.2020.11.009","article-title":"Spinal Muscular Atrophy: In the Challenge Lies a Solution","volume":"44","author":"Wirth","year":"2021","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.ajhg.2026.01.012_bib5","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/s41572-022-00380-8","article-title":"Spinal muscular atrophy","volume":"8","author":"Mercuri","year":"2022","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.ajhg.2026.01.012_bib6","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1177\/22143602241288095","article-title":"Newborn screening programs for spinal muscular atrophy worldwide in 2023","volume":"11","author":"Vr\u0161\u010daj","year":"2024","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ajhg.2026.01.012_bib7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-021-01783-8","article-title":"Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years","volume":"16","author":"Vill","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2026.01.012_bib8","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"The implementation of newborn screening for spinal muscular atrophy: the Australian experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.01.012_bib9","doi-asserted-by":"crossref","DOI":"10.3390\/ijms241511939","article-title":"Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment","volume":"24","author":"Nishio","year":"2023","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2026.01.012_bib10","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1001\/jamapediatrics.2024.0492","article-title":"Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial","volume":"178","author":"Schwartz","year":"2024","journal-title":"JAMA Pediatr."},{"key":"10.1016\/j.ajhg.2026.01.012_bib11","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/dmcn.15117","article-title":"Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme","volume":"64","author":"D\u2019Silva","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ajhg.2026.01.012_bib12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41431-019-0476-4","article-title":"High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR","volume":"28","author":"Czibere","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib13","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1373\/clinchem.2014.231019","article-title":"Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency","volume":"61","author":"Taylor","year":"2015","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ajhg.2026.01.012_bib14","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1038\/s41436-020-0824-3","article-title":"Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy","volume":"22","author":"Kay","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.01.012_bib15","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200175","article-title":"Complex SMN Hybrids Detected in a Cohort of 31 Patients with Spinal Muscular Atrophy","volume":"10","author":"Costa-Roger","year":"2024","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib16","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.01.012_bib18","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1212\/WNL.0000000000007836","article-title":"Discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"93","author":"Schorling","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2026.01.012_bib19","doi-asserted-by":"crossref","first-page":"19892","DOI":"10.1038\/s41598-020-76893-7","article-title":"Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument","volume":"10","author":"Jiang","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2026.01.012_bib17","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."},{"key":"10.1016\/j.ajhg.2026.01.012_bib20","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1177\/0883073814521297","article-title":"Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1","volume":"30","author":"Ganji","year":"2015","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ajhg.2026.01.012_bib21","first-page":"121","article-title":"[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy]","volume":"28","author":"Qu","year":"2011","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.ajhg.2026.01.012_bib22","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.01.012_bib23","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/hmg\/ddy251","article-title":"Mild SMN missense alleles are only functional in the presence of SMN2 in mammals","volume":"27","author":"Iyer","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib24","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/s00439-003-1025-2","article-title":"Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1","volume":"114","author":"Helmken","year":"2003","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib25","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.ajhg.2023.02.004","article-title":"Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4","volume":"110","author":"Strathmann","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/s41586-024-07487-w","article-title":"Accurate structure prediction of biomolecular interactions with AlphaFold 3","volume":"630","author":"Abramson","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.01.012_bib27","doi-asserted-by":"crossref","first-page":"7644","DOI":"10.1093\/nar\/gkab508","article-title":"Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer","volume":"49","author":"Gupta","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.01.012_bib28","doi-asserted-by":"crossref","first-page":"7207","DOI":"10.1093\/nar\/gkab158","article-title":"Identification and structural analysis of the Schizosaccharomyces pombe SMN complex","volume":"49","author":"Veepaschit","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.01.012_bib29","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1016\/j.str.2012.08.024","article-title":"The survival motor neuron protein forms soluble glycine zipper oligomers","volume":"20","author":"Martin","year":"2012","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2026.01.012_bib30","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1046\/j.1432-1327.2000.01023.x","article-title":"Thermal unfolding of G-actin monitored with the DNase I-inhibition assay stabilities of actin isoforms","volume":"267","author":"Sch\u00fcler","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ajhg.2026.01.012_bib31","first-page":"1","article-title":"Clinical relevance of zebra fish for gene variants testing . Proof-of-principle with SMN1\/SMA","author":"Stringer","year":"2025","journal-title":"EMBO Mol. Med"},{"key":"10.1016\/j.ajhg.2026.01.012_bib32","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1093\/hmg\/ddp310","article-title":"Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects","volume":"18","author":"Boon","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib33","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2023.1221310","article-title":"Optimising the zebrafish Cre\/Lox toolbox. Codon improved iCre, new gateway tools, Cre protein and guidelines","volume":"14","author":"Tromp","year":"2023","journal-title":"Front. Physiol."},{"key":"10.1016\/j.ajhg.2026.01.012_bib34","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.01.012_bib35","doi-asserted-by":"crossref","DOI":"10.3390\/genes15070956","article-title":"Rare Variants of the SMN1 Gene Detected during Neonatal Screening","volume":"15","author":"Akhkiamova","year":"2024","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2026.01.012_bib36","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."},{"key":"10.1016\/j.ajhg.2026.01.012_bib37","doi-asserted-by":"crossref","DOI":"10.1016\/j.heliyon.2024.e28015","article-title":"Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA","volume":"10","author":"Qu","year":"2024","journal-title":"Heliyon"},{"key":"10.1016\/j.ajhg.2026.01.012_bib38","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2026.01.012_bib39","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","article-title":"Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul. Disord."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726000339?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726000339?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T20:29:26Z","timestamp":1776716966000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726000339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["S0002929726000339"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.01.012","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}