{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T19:34:46Z","timestamp":1790537686159,"version":"4.1.0"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T00:00:00Z","timestamp":1550620800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T00:00:00Z","timestamp":1550620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD069045"],"award-info":[{"award-number":["R01HD069045"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD060586"],"award-info":[{"award-number":["HD060586"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1007\/s00439-019-01983-0","type":"journal-article","created":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T21:25:51Z","timestamp":1550697951000},"page":"241-256","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype"],"prefix":"10.1007","volume":"138","author":[{"given":"Corey","family":"Ruhno","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki L.","family":"McGovern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R.","family":"Avenarius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela J.","family":"Snyder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia C.","family":"Nery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdurrahman","family":"Muhtaseb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer S.","family":"Roggenbuck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Kissel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Siranosian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alec J.","family":"Johnstone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pann H.","family":"Nwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren Z.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur H. M.","family":"Burghes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,2,20]]},"reference":[{"key":"1983_CR1","doi-asserted-by":"publisher","unstructured":"Ackermann B, Kr\u00f6ber S, Torres-Benito L et al (2013) Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 1\u201320. \n                    https:\/\/doi.org\/10.1093\/hmg\/dds540","DOI":"10.1093\/hmg\/dds540"},{"key":"1983_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/nar\/gku218","volume":"42","author":"DM Alvarado","year":"2014","unstructured":"Alvarado DM, Yang P, Druley TE et al (2014) Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP\/INDEL detection. Nucleic Acids Res 42:1\u201310. \n                    https:\/\/doi.org\/10.1093\/nar\/gku218","journal-title":"Nucleic Acids Res"},{"key":"1983_CR3","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1002\/humu.10221","volume":"22","author":"D Anhuf","year":"2003","unstructured":"Anhuf D, Eggermann T, Rudnik-Sch\u00f6neborn S, Zerres K (2003) Determination of SMN1 and SMN2 copy number using TaqMan\u2122 technology. Hum Mutat 22:74\u201378. \n                    https:\/\/doi.org\/10.1002\/humu.10221","journal-title":"Hum Mutat"},{"key":"1983_CR4","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1016\/j.nmd.2006.08.011","volume":"16","author":"EL Arkblad","year":"2006","unstructured":"Arkblad EL, Darin N, Berg K et al (2006) Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 16:830\u2013838. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2006.08.011","journal-title":"Neuromuscul Disord"},{"key":"1983_CR5","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1002\/ana.23995","volume":"74","author":"WD Arnold","year":"2013","unstructured":"Arnold WD, Burghes AHM (2013) Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol 74:348\u2013362. \n                    https:\/\/doi.org\/10.1002\/ana.23995","journal-title":"Ann Neurol"},{"key":"1983_CR6","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.24497","volume":"51","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Kassar D, Kissel JT (2015) Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve 51:157\u2013167. \n                    https:\/\/doi.org\/10.1002\/mus.24497","journal-title":"Muscle Nerve"},{"key":"1983_CR7","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1136\/jmg.2010.079004","volume":"47","author":"S Bernal","year":"2010","unstructured":"Bernal S, Al\u00edas L, Barcel\u00f3 MJ et al (2010) The c.859G\u2009>\u2009C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet 47:640\u2013642. \n                    https:\/\/doi.org\/10.1136\/jmg.2010.079004","journal-title":"J Med Genet"},{"key":"1983_CR8","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/j.nmd.2011.03.009","volume":"21","author":"S Bernal","year":"2011","unstructured":"Bernal S, Also-Rallo E, Mart\u00ednez-Hern\u00e1ndez R et al (2011) Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscul Disord 21:413\u2013419. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2011.03.009","journal-title":"Neuromuscul Disord"},{"key":"1983_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1086\/513913","volume":"61","author":"AHM Burghes","year":"1997","unstructured":"Burghes AHM (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9\u201315. \n                    https:\/\/doi.org\/10.1086\/513913","journal-title":"Am J Hum Genet"},{"key":"1983_CR10","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/nrn2670","volume":"10","author":"AHM Burghes","year":"2009","unstructured":"Burghes AHM, Beattie CE (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 10:597\u2013609. \n                    https:\/\/doi.org\/10.1038\/nrn2670","journal-title":"Nat Rev Neurosci"},{"key":"1983_CR11","doi-asserted-by":"publisher","unstructured":"Burghes AHM, McGovern VL (2017) Genetics of spinal muscular atrophy. Mol Cell Ther Mot Neuron Dis 121\u2013139. \n                    https:\/\/doi.org\/10.1016\/B978-0-12-802257-3.00006-7","DOI":"10.1016\/B978-0-12-802257-3.00006-7"},{"key":"1983_CR12","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1007\/BF00212028","volume":"93","author":"AHM Burghes","year":"1994","unstructured":"Burghes AHM, Ingraham SE, K\u00f3te-Jarai Z et al (1994) Linkage mapping of the spinal muscular atrophy gene. Hum Genet 93:305\u2013312","journal-title":"Hum Genet"},{"key":"1983_CR13","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1136\/jmg.33.4.281","volume":"33","author":"P Burlet","year":"1996","unstructured":"Burlet P, B\u00fcrglen L, Clermont O et al (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 33:281\u2013283. \n                    https:\/\/doi.org\/10.1136\/jmg.33.4.281","journal-title":"J Med Genet"},{"key":"1983_CR14","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1128\/MCB.01262-08","volume":"29","author":"BG Burnett","year":"2009","unstructured":"Burnett BG, Mu\u00f1oz E, Tandon A et al (2009) Regulation of SMN protein stability. Mol Cell Biol 29:1107\u20131115. \n                    https:\/\/doi.org\/10.1128\/MCB.01262-08","journal-title":"Mol Cell Biol"},{"key":"1983_CR15","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Al\u00edas L et al (2018) Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord 28:208\u2013215. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2018.01.003","journal-title":"Neuromuscul Disord"},{"key":"1983_CR16","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1086\/513886","volume":"61","author":"L Campbell","year":"1997","unstructured":"Campbell L, Potter A, Ignatius J et al (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 61:40\u201350. \n                    https:\/\/doi.org\/10.1086\/513886","journal-title":"Am J Hum Genet"},{"key":"1983_CR17","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1006\/geno.1994.1626","volume":"24","author":"JD Carpten","year":"1994","unstructured":"Carpten JD, DiDonato CJ, Ingraham SE et al (1994) A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics 24:351\u2013356. \n                    https:\/\/doi.org\/10.1006\/geno.1994.1626","journal-title":"Genomics"},{"key":"1983_CR18","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/ng854","volume":"30","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Krainer AR (2002) Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN. Nat Genet 30:377\u2013384. \n                    https:\/\/doi.org\/10.1038\/ng854","journal-title":"Nat Genet"},{"key":"1983_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12864-018-4489-0","volume":"19","author":"FC Ceballos","year":"2018","unstructured":"Ceballos FC, Hazelhurst S, Ramsay M (2018) Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data. BMC Genom 19:1\u201312. \n                    https:\/\/doi.org\/10.1186\/s12864-018-4489-0","journal-title":"BMC Genom"},{"key":"1983_CR20","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1006\/geno.1997.5141","volume":"48","author":"Q Chen","year":"1998","unstructured":"Chen Q, Baird SD, Mahadevan M et al (1998) Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Genomics 48:121\u2013127. \n                    https:\/\/doi.org\/10.1006\/geno.1997.5141","journal-title":"Genomics"},{"key":"1983_CR21","first-page":"805","volume":"57","author":"JM Cobben","year":"1995","unstructured":"Cobben JM, Van Der Steege G, Grootscholten P et al (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805\u2013808","journal-title":"Am J Hum Genet"},{"key":"1983_CR22","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","volume":"6","author":"DD Coovert","year":"1997","unstructured":"Coovert DD, Le TT, McAndrew PE et al (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6:1205\u20131214. \n                    https:\/\/doi.org\/10.1093\/hmg\/6.8.1205","journal-title":"Hum Mol Genet"},{"key":"1983_CR23","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","volume":"3","author":"TO Crawford","year":"1996","unstructured":"Crawford TO, Pardo CA (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 3:97\u2013110. \n                    https:\/\/doi.org\/10.1006\/nbdi.1996.0010","journal-title":"Neurobiol Dis"},{"key":"1983_CR24","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s00415-005-0912-y","volume":"253","author":"I Cusc\u00f3","year":"2006","unstructured":"Cusc\u00f3 I, Barcel\u00f3 MJ, Rojas-Garc\u00eda R et al (2006) SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 253:21\u201325. \n                    https:\/\/doi.org\/10.1007\/s00415-005-0912-y","journal-title":"J Neurol"},{"key":"1983_CR25","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"M DePristo","year":"2011","unstructured":"DePristo M, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491\u2013498. \n                    https:\/\/doi.org\/10.1038\/ng.806","journal-title":"Nat Genet"},{"key":"1983_CR26","volume-title":"The spinal muscular atrophy gene: \u201cisolation and characterization of the genetic and physical region surrounding the gene locus and identification of candidate cDNAs","author":"CJ DiDonato","year":"1995","unstructured":"DiDonato CJ (1995) The spinal muscular atrophy gene: \u201cisolation and characterization of the genetic and physical region surrounding the gene locus and identification of candidate cDNAs. The Ohio State University, Columbus, OH"},{"key":"1983_CR27","first-page":"1218","volume":"55","author":"CJ DiDonato","year":"1994","unstructured":"DiDonato CJ, Morgan K, Carpten JD et al (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218\u20131229","journal-title":"Am J Hum Genet"},{"key":"1983_CR28","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1002\/ana.410410214","volume":"41","author":"CJ DiDonato","year":"1997","unstructured":"DiDonato CJ, Ingraham SE, Mendell JR et al (1997) Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 41:230\u2013237. \n                    https:\/\/doi.org\/10.1002\/ana.410410214","journal-title":"Ann Neurol"},{"key":"1983_CR29","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin A, Davis CA, Schlesinger F et al (2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29:15\u201321. \n                    https:\/\/doi.org\/10.1093\/bioinformatics\/bts635","journal-title":"Bioinformatics"},{"key":"1983_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0189710","volume":"13","author":"J Eisfeldt","year":"2018","unstructured":"Eisfeldt J, Nilsson D, Andersson-Assarsson JC, Lindstrand A (2018) AMYCNE: Confident copy number assessment using whole genome sequencing data. PLoS One 13:1\u201314. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0189710","journal-title":"PLoS One"},{"key":"1983_CR31","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1086\/338627","volume":"70","author":"M Feldk\u00f6tter","year":"2002","unstructured":"Feldk\u00f6tter M, Schwarzer V, Wirth R et al (2002) 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. Am J Hum Genet 70:358\u2013368. \n                    https:\/\/doi.org\/10.1086\/338627","journal-title":"Am J Hum Genet"},{"key":"1983_CR32","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT et al (2017) Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377:1723\u20131732. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1702752","journal-title":"N Engl J Med"},{"key":"1983_CR33","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14027","author":"T Gidaro","year":"2018","unstructured":"Gidaro T, Servais L (2018) Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol. \n                    https:\/\/doi.org\/10.1111\/dmcn.14027","journal-title":"Dev Med Child Neurol"},{"key":"1983_CR34","doi-asserted-by":"publisher","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","volume":"4","author":"E Hahnen","year":"1995","unstructured":"Hahnen E, Forkert R, Marke C et al (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4:1927\u20131933. \n                    https:\/\/doi.org\/10.1093\/hmg\/4.10.1927","journal-title":"Hum Mol Genet"},{"key":"1983_CR35","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1326-6-24","volume":"6","author":"LT Hao","year":"2011","unstructured":"Hao LT, Burghes AHM, Beattie CE (2011) Generation and characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. Mol Neurodegener 6:1\u20139. \n                    https:\/\/doi.org\/10.1186\/1750-1326-6-24","journal-title":"Mol Neurodegener"},{"key":"1983_CR36","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1093\/hmg\/ddn357","volume":"18","author":"J Hauke","year":"2009","unstructured":"Hauke J, Riessland M, Lunke S et al (2009) Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 18:304\u2013317. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddn357","journal-title":"Hum Mol Genet"},{"key":"1983_CR37","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1038\/ejhg.2008.41","volume":"16","author":"M Jedrzejowska","year":"2008","unstructured":"Jedrzejowska M, Borkowska J, Zimowski J et al (2008) Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet 16:930\u2013934. \n                    https:\/\/doi.org\/10.1038\/ejhg.2008.41","journal-title":"Eur J Hum Genet"},{"key":"1983_CR38","doi-asserted-by":"publisher","first-page":"103","DOI":"10.18388\/abp.2009_2521","volume":"56","author":"M Jedrzejowska","year":"2009","unstructured":"Jedrzejowska M, Milewski M, Zimowski J et al (2009) Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta Biochim Pol 56:103\u2013108","journal-title":"Acta Biochim Pol"},{"key":"1983_CR39","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1038\/ng1207","volume":"34","author":"T Kashima","year":"2003","unstructured":"Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34:460\u2013463. \n                    https:\/\/doi.org\/10.1038\/ng1207","journal-title":"Nat Genet"},{"key":"1983_CR40","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1093\/hmg\/ddi078","volume":"14","author":"TT Le","year":"2005","unstructured":"Le TT, Pham LT, Butchbach MER et al (2005) SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14:845\u2013857. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddi078","journal-title":"Hum Mol Genet"},{"key":"1983_CR41","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, B\u00fcrglen L, Reboullet S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155\u2013165","journal-title":"Cell"},{"key":"1983_CR42","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/ng0797-265","volume":"16","author":"S Lefebvre","year":"1997","unstructured":"Lefebvre S, Burlet P, Liu Q et al (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16:265\u2013269. \n                    https:\/\/doi.org\/10.1038\/ng0797-265","journal-title":"Nat Genet"},{"key":"1983_CR43","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A et al (2009) The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25:2078\u20132079. \n                    https:\/\/doi.org\/10.1093\/bioinformatics\/btp352","journal-title":"Bioinformatics"},{"key":"1983_CR44","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1038\/ng0598-63","volume":"19","author":"CL Lorson","year":"1998","unstructured":"Lorson CL, Strasswimmer J, Yao JM et al (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63\u201366. \n                    https:\/\/doi.org\/10.1038\/ng0598-63","journal-title":"Nat Genet"},{"key":"1983_CR45","doi-asserted-by":"publisher","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","volume":"96","author":"CL Lorson","year":"1999","unstructured":"Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96:6307\u20136311. \n                    https:\/\/doi.org\/10.1073\/pnas.96.11.6307","journal-title":"Proc Natl Acad Sci USA"},{"key":"1983_CR46","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","volume":"4","author":"MD Mailman","year":"2002","unstructured":"Mailman MD, Heinz JW, Papp AC et al (2002) Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 4:20\u201326. \n                    https:\/\/doi.org\/10.1097\/00125817-200201000-00004","journal-title":"Genet Med"},{"key":"1983_CR47","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1086\/515465","volume":"60","author":"PE McAndrew","year":"1997","unstructured":"McAndrew PE, Parsons DW, Simard LR et al (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60:1411\u20131422. \n                    https:\/\/doi.org\/10.1086\/515465","journal-title":"Am J Hum Genet"},{"key":"1983_CR48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0132364","volume":"10","author":"VL McGovern","year":"2015","unstructured":"McGovern VL, Massoni-Laporte A, Wang X et al (2015) Plastin 3 expression does not modify spinal muscular atrophy severity in the \u22067 SMA mouse. PLoS One 10:1\u201319. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0132364","journal-title":"PLoS One"},{"key":"1983_CR49","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1126\/science.7910982","volume":"264","author":"J Melki","year":"1994","unstructured":"Melki J, Lefebvre S, Burglen L et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264:1474\u20131477. \n                    https:\/\/doi.org\/10.1126\/science.7910982","journal-title":"Science"},{"key":"1983_CR50","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","volume":"377","author":"JR Mendell","year":"2017","unstructured":"Mendell JR, Al-Zaidy S, Shell R et al (2017) Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 377:1713\u20131722. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1706198","journal-title":"N Engl J Med"},{"key":"1983_CR51","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA et al (2018) Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 378:625\u2013635. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1710504","journal-title":"N Engl J Med"},{"key":"1983_CR52","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0022-510X(01)00632-3","volume":"191","author":"RG Miller","year":"2001","unstructured":"Miller RG, Moore DH, Dronsky V et al (2001) A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci 191:127\u2013131. \n                    https:\/\/doi.org\/10.1016\/S0022-510X(01)00632-3","journal-title":"J Neurol Sci"},{"key":"1983_CR53","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","volume":"8","author":"UR Monani","year":"1999","unstructured":"Monani UR, Lorson CL, Parsons DW et al (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8:1177\u20131183. \n                    https:\/\/doi.org\/10.1093\/hmg\/8.7.1177","journal-title":"Hum Mol Genet"},{"key":"1983_CR54","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/0960-8966(91)90052-T","volume":"1","author":"TL Munsat","year":"1991","unstructured":"Munsat TL (1991) International SMA Collaboration. Neuromuscul Disord 1:81. \n                    https:\/\/doi.org\/10.1016\/0960-8966(91)90052-T","journal-title":"Neuromuscul Disord"},{"key":"1983_CR55","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1126\/science.1155085","volume":"320","author":"GE Oprea","year":"2008","unstructured":"Oprea GE, Kr\u00f6ber S, McWhorter ML et al (2008) Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320:524\u2013527. \n                    https:\/\/doi.org\/10.1126\/science.1155085","journal-title":"Science"},{"key":"1983_CR56","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1006\/geno.1998.5423","volume":"52","author":"K Osoegawa","year":"1998","unstructured":"Osoegawa K, Woon PY, Zhao B et al (1998) An improved approach for construction of bacterial artificial chromosome libraries. Genomics 52:1\u20138. \n                    https:\/\/doi.org\/10.1006\/geno.1998.5423","journal-title":"Genomics"},{"key":"1983_CR57","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1101\/gr.169601","volume":"11","author":"K Osoegawa","year":"2001","unstructured":"Osoegawa K, Mammoser AG, Wu C et al (2001) A bacterial artificial chromosome library for sequencing the complete human genome. Genome Res 11:483\u2013496. \n                    https:\/\/doi.org\/10.1101\/gr.169601","journal-title":"Genome Res"},{"key":"1983_CR58","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1016\/j.nmd.2017.06.559","volume":"27","author":"M Pane","year":"2017","unstructured":"Pane M, Lapenta L, Abiusi E et al (2017) Longitudinal assessments in discordant twins with SMA. Neuromuscul Disord 27:890\u2013893. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2017.06.559","journal-title":"Neuromuscul Disord"},{"key":"1983_CR59","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1136\/jmg.10.3.260","volume":"10","author":"JH Pearn","year":"1973","unstructured":"Pearn JH (1973) The gene frequency of acute werdnig-hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet 10:260\u2013265. \n                    https:\/\/doi.org\/10.1136\/jmg.10.3.260","journal-title":"J Med Genet"},{"key":"1983_CR60","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1136\/jmg.15.6.409","volume":"15","author":"JH Pearn","year":"1978","unstructured":"Pearn JH (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15:409\u2013413. \n                    https:\/\/doi.org\/10.1136\/jmg.15.6.409","journal-title":"J Med Genet"},{"key":"1983_CR61","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1177\/0883073807305668","volume":"22","author":"TW Prior","year":"2007","unstructured":"Prior TW (2007) Spinal muscular atrophy diagnostics. J Child Neurol 22:952\u2013956. \n                    https:\/\/doi.org\/10.1177\/0883073807305668","journal-title":"J Child Neurol"},{"key":"1983_CR62","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1002\/ajmg.a.30251","volume":"130 A","author":"TW Prior","year":"2004","unstructured":"Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ (2004) Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet 130 A:307\u2013310. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.30251","journal-title":"Am J Med Genet"},{"key":"1983_CR63","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","volume":"85","author":"TW Prior","year":"2009","unstructured":"Prior TW, Krainer AR, Hua Y et al (2009) A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 85:408\u2013413. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2009.08.002","journal-title":"Am J Hum Genet"},{"key":"1983_CR64","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1097\/01.gim.0000227970.60450.b2","volume":"8","author":"RE Pyatt","year":"2006","unstructured":"Pyatt RE, Prior TW (2006) A feasibility study for the newborn screening of spinal muscular atrophy. Genet Med 8:428\u2013437. \n                    https:\/\/doi.org\/10.1097\/01.gim.0000227970.60450.b2","journal-title":"Genet Med"},{"key":"1983_CR65","unstructured":"R Core Team (2013) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. \n                    https:\/\/www.R-project.org\/"},{"key":"1983_CR66","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","volume":"100","author":"M Riessland","year":"2017","unstructured":"Riessland M, Kaczmarek A, Schneider S et al (2017) Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis. Am J Hum Genet 100:297\u2013315. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2017.01.005","journal-title":"Am J Hum Genet"},{"key":"1983_CR67","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1136\/adc.45.239.33","volume":"45","author":"DF Roberts","year":"1970","unstructured":"Roberts DF, Chavez J, Court SDM (1970) The genetic component in child mortality. Arch Dis Child 45:33\u201338. \n                    https:\/\/doi.org\/10.1136\/adc.45.239.33","journal-title":"Arch Dis Child"},{"key":"1983_CR68","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","volume":"80","author":"N Roy","year":"1995","unstructured":"Roy N, Mahadevan MS, McLean M et al (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167\u2013178. \n                    https:\/\/doi.org\/10.1016\/0092-8674(95)90461-1","journal-title":"Cell"},{"key":"1983_CR69","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1093\/nar\/23.2.256","volume":"23","author":"NS R\u00fcdiger","year":"1995","unstructured":"R\u00fcdiger NS, Gregersen N, Kielland-brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256\u2013260. \n                    https:\/\/doi.org\/10.1093\/nar\/23.2.256","journal-title":"Nucleic Acids Res"},{"key":"1983_CR70","first-page":"1","volume":"4","author":"EA Strathmann","year":"2018","unstructured":"Strathmann EA, Peters M, Hosseinibarkooie S et al (2018) Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PLoS One 4:1\u201328","journal-title":"PLoS One"},{"key":"1983_CR71","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","volume":"20","author":"EA Sugarman","year":"2012","unstructured":"Sugarman EA, Nagan N, Zhu H et al (2012) Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of 472400 specimens. Eur J Hum Genet 20:27\u201332. \n                    https:\/\/doi.org\/10.1038\/ejhg.2011.134","journal-title":"Eur J Hum Genet"},{"key":"1983_CR72","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1007\/s13277-013-0754-7","volume":"34","author":"J Szkandera","year":"2013","unstructured":"Szkandera J, Winder T, Stotz M et al (2013) A common gene variant in PLS3 predicts colon cancer recurrence in women. Tumor Biol 34:2183\u20132188. \n                    https:\/\/doi.org\/10.1007\/s13277-013-0754-7","journal-title":"Tumor Biol"},{"key":"1983_CR73","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/ng0195-56","volume":"9","author":"TG Thompson","year":"1995","unstructured":"Thompson TG, Didonato CJ, Simard LR et al (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 9:56\u201362. \n                    https:\/\/doi.org\/10.1038\/ng0195-56","journal-title":"Nat Genet"},{"key":"1983_CR74","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1093\/hmg\/5.2.257","volume":"5","author":"E Velasco","year":"1996","unstructured":"Velasco E, Valero C, Valero A et al (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies ofcBCD541 and SMA phenotype. Hum Mol Genet 5:257\u2013263. \n                    https:\/\/doi.org\/10.1093\/hmg\/5.2.257","journal-title":"Hum Mol Genet"},{"key":"1983_CR75","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1002\/humu.21173","volume":"31","author":"M Vezain","year":"2010","unstructured":"Vezain M, Saugier-Veber P, Goina E et al (2010) 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. Hum Mutat 31:1110\u20131125. \n                    https:\/\/doi.org\/10.1002\/humu.21173","journal-title":"Hum Mutat"},{"key":"1983_CR76","doi-asserted-by":"publisher","first-page":"2396","DOI":"10.1002\/elps.201000124","volume":"31","author":"CC Wang","year":"2010","unstructured":"Wang CC, Chang JG, Chen YL et al (2010) Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. Electrophoresis 31:2396\u20132404. \n                    https:\/\/doi.org\/10.1002\/elps.201000124","journal-title":"Electrophoresis"},{"key":"1983_CR77","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/0888-7543(91)90077-R","volume":"11","author":"JL Weber","year":"1991","unstructured":"Weber JL, Polymeropoulos MH, May PE et al (1991) Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics 11:695\u2013700. \n                    https:\/\/doi.org\/10.1016\/0888-7543(91)90077-R","journal-title":"Genomics"},{"key":"1983_CR78","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1159\/000472274","volume":"3","author":"B Wirth","year":"1995","unstructured":"Wirth B, El-Agwany A, Baasner A et al (1995) Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites. Eur J Hum Genet 3:56\u201360. \n                    https:\/\/doi.org\/10.1159\/000472274","journal-title":"Eur J Hum Genet"},{"key":"1983_CR79","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1086\/301608","volume":"61","author":"B Wirth","year":"1997","unstructured":"Wirth B, Schmidt T, Hahnen E et al (1997) De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102\u20131111. \n                    https:\/\/doi.org\/10.1086\/301608","journal-title":"Am J Hum Genet"},{"key":"1983_CR80","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1086\/302369","volume":"64","author":"B Wirth","year":"1999","unstructured":"Wirth B, Herz M, Wetter A et al (1999) Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 64:1340\u20131356","journal-title":"Am J Hum Genet"},{"key":"1983_CR81","doi-asserted-by":"publisher","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","volume":"26","author":"X Wu","year":"2017","unstructured":"Wu X, Wang S-H, Sun J et al (2017) A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Hum Mol Genet 26:2768\u20132780. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddx166","journal-title":"Hum Mol Genet"},{"key":"1983_CR82","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","volume":"52","author":"K Zerres","year":"1995","unstructured":"Zerres K, Rudnik-Schoneborn S (1995) Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 52:518\u2013523","journal-title":"Arch Neurol"},{"key":"1983_CR83","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1038\/ejhg.2012.293","volume":"21","author":"GY Zheleznyakova","year":"2013","unstructured":"Zheleznyakova GY, Voisin S, Kiselev AV et al (2013) Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. Eur J Hum Genet 21:988\u2013993. \n                    https:\/\/doi.org\/10.1038\/ejhg.2012.293","journal-title":"Eur J Hum Genet"},{"key":"1983_CR84","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0121964","volume":"10","author":"GY Zheleznyakova","year":"2015","unstructured":"Zheleznyakova GY, Nilsson EK, Kiselev AV et al (2015) Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity. PLoS One 10:1\u201314. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0121964","journal-title":"PLoS One"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-019-01983-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01983-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01983-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T13:48:47Z","timestamp":1589636927000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-019-01983-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,20]]},"references-count":84,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["1983"],"URL":"https:\/\/doi.org\/10.1007\/s00439-019-01983-0","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,20]]},"assertion":[{"value":"20 November 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}