{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:12:55Z","timestamp":1792141975332,"version":"4.4.0"},"reference-count":55,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1R43NS115425-01"],"award-info":[{"award-number":["1R43NS115425-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jmdjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.jmoldx.2021.03.004","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T19:16:02Z","timestamp":1617131762000},"page":"753-764","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants"],"prefix":"10.1016","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8905-8318","authenticated-orcid":false,"given":"John N.","family":"Milligan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica L.","family":"Larson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stela","family":"Filipovic-Sadic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walairat","family":"Laosinchai-Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Wen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsang-Ming","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin M.","family":"Abbott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henny H.","family":"Lemmink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Toivonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1863-0305","authenticated-orcid":false,"given":"Johanna","family":"Schleutker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3997-5249","authenticated-orcid":false,"given":"Caren","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivianna M.","family":"Van Deerlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8813-2814","authenticated-orcid":false,"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary J.","family":"Latham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2021.03.004_bib1","author":"Prior"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib2","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib3","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1080\/14737175.2017.1364159","article-title":"Nusinersen for the treatment of spinal muscular atrophy","volume":"17","author":"Chiriboga","year":"2017","journal-title":"Expert Rev Neurother"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib5","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1159\/000110905","article-title":"Epidemiology of spinal muscular atrophies in a sample of the Italian population","volume":"11","author":"Mostacciuolo","year":"1992","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib6","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib7","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/BF00218278","article-title":"Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen)","volume":"91","author":"Thieme","year":"1993","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib8","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib9","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib10","doi-asserted-by":"crossref","first-page":"e18809","DOI":"10.1097\/MD.0000000000018809","article-title":"The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: observational study","volume":"99","author":"Zhang","year":"2020","journal-title":"Medicine"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib11","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Adv Neurobiol"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib12","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib13","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1136\/jmg.2010.079004","article-title":"The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor","volume":"47","author":"Bernal","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib14","doi-asserted-by":"crossref","first-page":"E1110","DOI":"10.1002\/humu.21173","article-title":"A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy","volume":"31","author":"Vezain","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib15","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib16","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib17","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib18","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3233\/JND-180315","article-title":"Evaluation of children with SMA type 1 under treatment with nusinersen within the expanded access program in Germany","volume":"5","author":"Pechmann","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib19","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib20","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1177\/1060028020914274","article-title":"Onasemnogene abeparvovec-xioi: gene therapy for spinal muscular atrophy","volume":"54","author":"Stevens","year":"2020","journal-title":"Ann Pharmacother"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib21","doi-asserted-by":"crossref","first-page":"e00447","DOI":"10.1002\/prp2.447","article-title":"Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs","volume":"6","author":"Poirier","year":"2018","journal-title":"Pharmacol Res Perspect"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib22","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of risdiplam, a selective survival of motor neuron-2 ( SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J Med Chem"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib23","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/bcp.13786","article-title":"A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier","volume":"85","author":"Sturm","year":"2019","journal-title":"Br J Clin Pharmacol"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib24","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1038\/s41431-019-0415-4","article-title":"Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors","volume":"27","author":"Serra-Juhe","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib25","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1097\/AOG.0000000000001948","article-title":"American College of Obstetricians and Gynecologists Committee opinion No. 691 summary: carrier screening for genetic conditions","volume":"129","year":"2017","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib26","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib27","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1038\/s41431-018-0193-4","article-title":"Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling","volume":"26","author":"Alias","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib28","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/s41436-020-0754-0","article-title":"Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data","volume":"22","author":"Chen","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib29","series-title":"MLPA (Multiplex Ligation-Dependent Probe Amplification) General Protocol for the Detection and Quantification of DNA Sequences. MLPA General Protocol, Instructions for Use MDP Version-007 ed","author":"Holland","year":"2019"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib30","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.jmoldx.2021.03.004_bib31","doi-asserted-by":"crossref","first-page":"fcaa075","DOI":"10.1093\/braincomms\/fcaa075","article-title":"Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy","volume":"2","author":"Wadman","year":"2020","journal-title":"Brain Commun"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib32","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One year of newborn screening for SMA - results of a German pilot project","volume":"6","author":"Vill","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib33","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s10038-019-0576-6","article-title":"Carrier screening for spinal muscular atrophy with a simple test based on melting analysis","volume":"64","author":"Xia","year":"2019","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib34","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1373\/clinchem.2018.293712","article-title":"Multiplex droplet digital PCR method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy","volume":"64","author":"Vidal-Folch","year":"2018","journal-title":"Clin Chem"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib35","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib36","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s12881-015-0246-2","article-title":"Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project","volume":"16","author":"Larson","year":"2015","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib37","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41436-020-0807-4","article-title":"Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach","volume":"22","author":"Westemeyer","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib38","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.jmoldx.2020.01.015","article-title":"Survival motor neuron gene copy number analysis by exome sequencing: assisting spinal muscular atrophy diagnosis and carrier screening","volume":"22","author":"Liu","year":"2020","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib39","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.ajhg.2018.04.004","article-title":"Preconception carrier screening by genome sequencing: results from the clinical laboratory","volume":"102","author":"Punj","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib40","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1373\/clinchem.2018.286823","article-title":"Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification","volume":"64","author":"Hogan","year":"2018","journal-title":"Clin Chem"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib41","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1038\/s41436-019-0472-7","article-title":"Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels","volume":"21","author":"Guo","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib42","series-title":"Measurement Procedure Comparison and Bias Estimation Using Patient Samples, ed 3. CLSI guideline EP09c","year":"2018"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib43","series-title":"Evaluation of Precision of Quantitative Measurement Procedures; Approved Guideline, ed 3. CLSI document EP05-A3","year":"2014"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib44","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib45","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1212\/WNL.0000000000009908","article-title":"Author response: discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"95","author":"Kirschner","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib46","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1212\/WNL.0000000000009905","article-title":"Editors' note: discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"95","author":"Ganesh","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib47","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1212\/WNL.0000000000009907","article-title":"Reader response: discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"95","author":"Dangouloff","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib48","doi-asserted-by":"crossref","first-page":"e530","DOI":"10.1212\/NXG.0000000000000530","article-title":"Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy","volume":"6","author":"Cusco","year":"2020","journal-title":"Neurol Genet"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib49","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1186\/s13059-019-1707-2","article-title":"Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight","volume":"20","author":"Ebbert","year":"2019","journal-title":"Genome Biol"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib50","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"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib51","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/gim.2016.76","article-title":"ADDENDUM: technical standards and guidelines for spinal muscular atrophy testing","volume":"18","author":"Prior","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib52","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","article-title":"Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening","volume":"5","author":"Glascock","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib53","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 U S A"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib54","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.braindev.2020.09.005","article-title":"Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene","volume":"43","author":"Niba","year":"2021","journal-title":"Brain Dev"},{"key":"10.1016\/j.jmoldx.2021.03.004_bib55","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.jns.2011.06.002","article-title":"Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population","volume":"308","author":"Chen","year":"2011","journal-title":"J Neurol Sci"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157821000696?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157821000696?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T18:14:59Z","timestamp":1761502499000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157821000696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":55,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["S1525157821000696"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2021.03.004","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants","name":"articletitle","label":"Article Title"},{"value":"The Journal of Molecular Diagnostics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jmoldx.2021.03.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}