{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T03:39:27Z","timestamp":1782099567383,"version":"3.54.5"},"reference-count":58,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"the Teuku Jacob Fellowship, Faculty of Medicine, Public Health, and Nursery, Universitas Gadjah Mada","award":["794\/UN1\/FKKMK\/PPKE\/PT\/2023"],"award-info":[{"award-number":["794\/UN1\/FKKMK\/PPKE\/PT\/2023"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Biotechnol"],"DOI":"10.1186\/s12896-024-00938-2","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T23:36:37Z","timestamp":1739576197000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy"],"prefix":"10.1186","volume":"25","author":[{"given":"Yogik Onky Silvana","family":"Wijaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mawaddah","family":"Ar Rochmah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian Kesumapramudya","family":"Nurputra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arta","family":"Farmawati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,14]]},"reference":[{"key":"938_CR1","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, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155\u201365. https:\/\/doi.org\/10.1016\/0092-8674(95)90460-3.","journal-title":"Cell"},{"key":"938_CR2","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. Spinal muscular atrophy: diagnosis and management in a new therapeutic era: spinal muscular atrophy. Muscle Nerve. 2015;51:157\u201367. https:\/\/doi.org\/10.1002\/mus.24497.","journal-title":"Muscle Nerve"},{"key":"938_CR3","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","volume":"345","author":"G van der Steege","year":"1995","unstructured":"van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CHC. M. PCR-Based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 1995;345:985\u20136. https:\/\/doi.org\/10.1016\/S0140-6736(95)90732-7.","journal-title":"Lancet"},{"key":"938_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/ijns5040041","volume":"5","author":"M Shinohara","year":"2019","unstructured":"Shinohara M, Niba ETE, Wijaya YOS, Takayama I, Mitsuishi C, Kumasaka S, Kondo Y, Takatera A, Hokuto I, Morioka I, et al. A Novel System for spinal muscular atrophy screening in newborns: Japanese pilot study. Int J Neonatal Screen. 2019;5:1\u201313. https:\/\/doi.org\/10.3390\/ijns5040041","journal-title":"Int J Neonatal Screen"},{"key":"938_CR5","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.braindev.2017.04.015","volume":"39","author":"M Ar Rochmah","year":"2017","unstructured":"Ar Rochmah M, Harahap NIF, Niba ETE, Nakanishi K, Awano H, Morioka I, Iijima K, Saito T, Saito K, Lai PS, et al. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. Brain Dev. 2017;39:774\u201382.\u00a0https:\/\/doi.org\/10.1016\/j.braindev.2017.04.015","journal-title":"Brain Dev"},{"key":"938_CR6","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1089\/gtmb.2020.0312","volume":"25","author":"YOS Wijaya","year":"2021","unstructured":"Wijaya YOS, Nishio H, Niba ETE, Shiroshita T, Kato M, Bouike Y, Tode C, Ar Rochmah M, Harahap NIF, Nurputra DK, et al. Dried blood spot screening system for spinal muscular atrophy with allele-specific polymerase chain reaction and melting peak analysis. Genet Test Mol Biomark. 2021;25:293\u2013301. https:\/\/doi.org\/10.1089\/gtmb.2020.0312.","journal-title":"Genet Test Mol Biomark"},{"key":"938_CR7","doi-asserted-by":"publisher","unstructured":"Zilfalil B, Sasongko T, Atif A, Gunadi, Ravichandran M, Marini M, Watihayati M, Hayati F, Zabidi-Hussin ZAMH, Nishio H. Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy. Indian J Med Res. 2012;135:31. https:\/\/doi.org\/10.4103\/0971-5916.93421.","DOI":"10.4103\/0971-5916.93421"},{"key":"938_CR8","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, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M. Multiplex ligation-dependent probe amplification improves Diagnostics in spinal muscular atrophy. Neuromuscul Disord. 2006;16:830\u20138. https:\/\/doi.org\/10.1016\/j.nmd.2006.08.011.","journal-title":"Neuromuscul Disord"},{"key":"938_CR9","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1007\/s40265-020-01410-z","volume":"80","author":"S Dhillon","year":"2020","unstructured":"Dhillon S, Risdiplam. First Approval Drugs. 2020;80:1853\u20138. https:\/\/doi.org\/10.1007\/s40265-020-01410-z.","journal-title":"First Approval Drugs"},{"key":"938_CR10","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, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, et al. Nusinersen versus Sham Control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723\u201332. https:\/\/doi.org\/10.1056\/NEJMoa1702752.","journal-title":"N Engl J Med"},{"key":"938_CR11","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, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713\u201322. https:\/\/doi.org\/10.1056\/NEJMoa1706198.","journal-title":"N Engl J Med"},{"key":"938_CR12","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","volume":"190","author":"Y-H Chien","year":"2017","unstructured":"Chien Y-H, Chiang S-C, Weng W-C, Lee N-C, Lin C-J, Hsieh W-S, Lee W-T, Jong Y-J, Ko T-M, Hwu W-L. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017;190:124\u2013e1291. https:\/\/doi.org\/10.1016\/j.jpeds.2017.06.042.","journal-title":"J Pediatr"},{"key":"938_CR13","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","volume":"31","author":"T Dangouloff","year":"2021","unstructured":"Dangouloff T, Vr\u0161\u010daj E, Servais L, Osredkar D, Adoukonou T, Aryani O, Barisic N, Bashiri F, Bastaki L, Benitto A, et al. Newborn screening programs for spinal muscular atrophy Worldwide: where we stand and where to go. Neuromuscul Disord. 2021;31:574\u201382. https:\/\/doi.org\/10.1016\/j.nmd.2021.03.007.","journal-title":"Neuromuscul Disord"},{"key":"938_CR14","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","volume":"22","author":"DST Kariyawasam","year":"2020","unstructured":"Kariyawasam DST, Russell JS, Wiley V, Alexander IE, Farrar MA. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Genet Med. 2020;22:557\u201365. https:\/\/doi.org\/10.1038\/s41436-019-0673-0.","journal-title":"Genet Med"},{"key":"938_CR15","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/gim.2017.152","volume":"20","author":"JN Kraszewski","year":"2018","unstructured":"Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, et al. Pilot Study of Population-based newborn screening for spinal muscular atrophy in New York State. Genet Med. 2018;20:608\u201313. https:\/\/doi.org\/10.1038\/gim.2017.152.","journal-title":"Genet Med"},{"key":"938_CR16","doi-asserted-by":"publisher","unstructured":"Kucera K, Taylor J, Robles V, Clinard K, Migliore B, Boyea B, Okoniewski K, Duparc M, Rehder C, Shone S, et al. A voluntary statewide newborn screening pilot for spinal muscular atrophy: results from early check. Int J Neonatal Screen. 2021;7:20. https:\/\/doi.org\/10.3390\/ijns7010020.","DOI":"10.3390\/ijns7010020"},{"key":"938_CR17","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1017\/cjn.2020.229","volume":"48","author":"HJ McMillan","year":"2021","unstructured":"McMillan HJ, Kernohan KD, Yeh E, Amburgey K, Boyd J, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, et al. Newborn screening for spinal muscular atrophy: Ontario Testing and follow-up recommendations. Can J Neurol Sci J Can Sci Neurol. 2021;48:504\u201311. https:\/\/doi.org\/10.1017\/cjn.2020.229.","journal-title":"Can J Neurol Sci J Can Sci Neurol"},{"key":"938_CR18","doi-asserted-by":"publisher","first-page":"100908","DOI":"10.1016\/j.ymgmr.2022.100908","volume":"32","author":"T Sawada","year":"2022","unstructured":"Sawada T, Kido J, Sugawara K, Yoshida S, Ozasa S, Nomura K, Okada K, Fujiyama N, Nakamura K. Newborn screening for spinal muscular atrophy in Japan: one year of experience. Mol Genet Metab Rep. 2022;32:100908. https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100908.","journal-title":"Mol Genet Metab Rep"},{"key":"938_CR19","doi-asserted-by":"publisher","first-page":"503","DOI":"10.3233\/JND-190428","volume":"6","author":"K Vill","year":"2019","unstructured":"Vill K, K\u00f6lbel H, Schwartz O, Blaschek A, Olgem\u00f6ller B, Harms E, Burggraf S, R\u00f6schinger W, Durner J, Gl\u00e4ser D, et al. One year of Newborn Screening for SMA \u2013 results of a German pilot project. J Neuromuscul Dis. 2019;6:503\u201315. https:\/\/doi.org\/10.3233\/JND-190428.","journal-title":"J Neuromuscul Dis"},{"key":"938_CR20","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.jviromet.2011.03.017","volume":"174","author":"EM Abdelwhab","year":"2011","unstructured":"Abdelwhab EM, L\u00fcschow D, Harder TC, Hafez HM. The Use of FTA\u00ae Filter Papers for diagnosis of Avian Influenza Virus. J Virol Methods. 2011;174:120\u20132. https:\/\/doi.org\/10.1016\/j.jviromet.2011.03.017.","journal-title":"J Virol Methods"},{"key":"938_CR21","doi-asserted-by":"publisher","first-page":"104772","DOI":"10.1016\/j.prevetmed.2019.104772","volume":"172","author":"JA Cardona-Ospina","year":"2019","unstructured":"Cardona-Ospina JA, Villalba-Miranda MF, Palechor-Ocampo LA, Mancilla LI, Sep\u00falveda-Arias JC. A systematic review of FTA Cards\u00ae as a Tool for viral RNA preservation in Fieldwork: are they safe and effective? Prev Vet Med. 2019;172:104772. https:\/\/doi.org\/10.1016\/j.prevetmed.2019.104772.","journal-title":"Prev Vet Med"},{"key":"938_CR22","doi-asserted-by":"publisher","first-page":"1743","DOI":"10.1007\/s00414-019-02146-6","volume":"133","author":"B Corradini","year":"2019","unstructured":"Corradini B, Al\u00f9 M, Magnanini E, Galinier ME, Silingardi E. The importance of forensic storage support: DNA quality from 11-Year-old saliva on FTA cards. Int J Legal Med. 2019;133:1743\u201350. https:\/\/doi.org\/10.1007\/s00414-019-02146-6.","journal-title":"Int J Legal Med"},{"key":"938_CR23","doi-asserted-by":"publisher","first-page":"248","DOI":"10.3390\/diagnostics10040248","volume":"10","author":"K Malsagova","year":"2020","unstructured":"Malsagova K, Kopylov A, Stepanov A, Butkova T, Izotov A, Kaysheva A. Dried blood spot in Laboratory: directions and prospects. Diagnostics. 2020;10:248. https:\/\/doi.org\/10.3390\/diagnostics10040248.","journal-title":"Diagnostics"},{"key":"938_CR24","doi-asserted-by":"publisher","unstructured":"Wijaya YOS, Purevsuren J, Harahap NIF, Niba ETE, Bouike Y, Nurputra DK, Rochmah MA, Thursina C, Hapsara S, Yamaguchi S, et al. Assessment of spinal muscular atrophy carrier status by determining SMN1 Copy Number using dried blood spots. Int J Neonatal Screen. 2020;6:43. https:\/\/doi.org\/10.3390\/ijns6020043.","DOI":"10.3390\/ijns6020043"},{"key":"938_CR25","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, Shutter G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. 1995;80:167\u201378. https:\/\/doi.org\/10.1016\/0092-8674(95)90461-1.","journal-title":"Cell"},{"key":"938_CR26","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.braindev.2008.08.012","volume":"31","author":"MS Watihayati","year":"2009","unstructured":"Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin Z, Nishio H, Zilfalil BA. Combination of SMN2 Copy number and NAIP deletion predicts Disease Severity in spinal muscular atrophy. Brain Dev. 2009;31:42\u20135. https:\/\/doi.org\/10.1016\/j.braindev.2008.08.012.","journal-title":"Brain Dev"},{"key":"938_CR27","doi-asserted-by":"publisher","unstructured":"Rekik I, Boukhris A, Ketata S, Amri M, Essid N, Feki I, Mhiri C. Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy. Ann Indian Acad Neurol. 2013;16:57. https:\/\/doi.org\/10.4103\/0972-2327.107704.","DOI":"10.4103\/0972-2327.107704"},{"key":"938_CR28","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1631\/jzus.B0820125","volume":"10","author":"Y Liang","year":"2009","unstructured":"Liang Y, Chen X, Yu Z, Chen C, Bi S, Mao L, Zhou B, Zhang X. Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. J Zhejiang Univ Sci B. 2009;10:29\u201334. https:\/\/doi.org\/10.1631\/jzus.B0820125.","journal-title":"J Zhejiang Univ Sci B"},{"key":"938_CR29","doi-asserted-by":"publisher","DOI":"10.1007\/s10528-023-10657-6","author":"E Abd","year":"2024","unstructured":"Abd E, Mutaleb ANH, Ibrahim FAR, Megahed FAK, Atta A, Ali BA, Omar TEI, Rashad MM. NAIP gene deletion and SMN2 Copy Number as Molecular Tools in Predicting the severity of spinal muscular atrophy. Biochem Genet. 2024. https:\/\/doi.org\/10.1007\/s10528-023-10657-6.","journal-title":"Biochem Genet"},{"key":"938_CR30","first-page":"25","volume":"48","author":"T Akutsu","year":"2002","unstructured":"Akutsu T, Nishio H, Sumino K, Takeshima Y, Tsuneishi S, Wada H, Takada S, Matsuo M, Nakamura H. Molecular Genetics of spinal muscular atrophy: contribution of the NAIP Gene to Clinical Severity. Kobe J Med Sci. 2002;48:25\u201331.","journal-title":"Kobe J Med Sci"},{"key":"938_CR31","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1111\/j.1442-200X.1997.tb03645.x","volume":"39","author":"M Saitoh","year":"1997","unstructured":"Saitoh M, Sakakihara Y, Kobayashi S, Hayashi Y, Yanagisawa M. Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Japanese patients. Pediatr Int. 1997;39:584\u20139. https:\/\/doi.org\/10.1111\/j.1442-200X.1997.tb03645.x.","journal-title":"Pediatr Int"},{"key":"938_CR32","doi-asserted-by":"publisher","first-page":"e18809","DOI":"10.1097\/MD.0000000000018809","volume":"99","author":"Y Zhang","year":"2020","unstructured":"Zhang Y, He J, Zhang Y, Li L, Tang X, Wang L, Guo J, Jin C, Tighe S, Zhang Y, et al. 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. Med (Baltim). 2020;99:e18809. https:\/\/doi.org\/10.1097\/MD.0000000000018809.","journal-title":"Med (Baltim)"},{"key":"938_CR33","doi-asserted-by":"publisher","first-page":"e13979","DOI":"10.1111\/1755-0998.13979","volume":"24","author":"J Li","year":"2024","unstructured":"Li J, Ulloa GM, Mayor P, Santolalla Robles ML, Greenwood AD. Nucleic acid degradation after long-term dried blood spot storage. Mol Ecol Resour. 2024;24:e13979. https:\/\/doi.org\/10.1111\/1755-0998.13979.","journal-title":"Mol Ecol Resour"},{"key":"938_CR34","doi-asserted-by":"publisher","unstructured":"Gr\u00fcner N, Stambouli O, Ross RS. Dried blood spots - preparing and processing for use in immunoassays and in molecular techniques. J Vis Exp. 2015:52619. https:\/\/doi.org\/10.3791\/52619-v.","DOI":"10.3791\/52619-v"},{"key":"938_CR35","first-page":"E71","volume":"67","author":"YOS Wijaya","year":"2021","unstructured":"Wijaya YOS, Niba ETE, Yabushita R, Bouike Y, Nishio H, Awano H. Glycogen Storage Disease Type Ia screening using dried blood spots on Filter Paper: application of COP-PCR for detection of the c.648G\u2009>\u2009T G6PC gene mutation. Kobe J Med Sci. 2021;67:E71\u20138.","journal-title":"Kobe J Med Sci"},{"key":"938_CR36","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s13023-020-1343-7","volume":"15","author":"K Van Vliet","year":"2020","unstructured":"Van Vliet K, Van Ginkel WG, Van Dam E, De Blaauw P, Koehorst M, Kingma HA, Van Spronsen FJ, Heiner-Fokkema MR. Dried blood spot versus venous blood sampling for phenylalanine and tyrosine. Orphanet J Rare Dis. 2020;15:82. https:\/\/doi.org\/10.1186\/s13023-020-1343-7.","journal-title":"Orphanet J Rare Dis"},{"key":"938_CR37","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1046\/j.1365-313X.2003.01748.x","volume":"34","author":"J Balk","year":"2003","unstructured":"Balk J, Chew SK, Leaver CJ, McCabe PF. The Intermembrane Space of Plant Mitochondria contains a DNase activity that May be involved in programmed cell death. Plant J. 2003;34:573\u201383. https:\/\/doi.org\/10.1046\/j.1365-313X.2003.01748.x.","journal-title":"Plant J"},{"key":"938_CR38","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/S1344-6223(01)00004-9","volume":"3","author":"K Kishi","year":"2001","unstructured":"Kishi K, Yasuda T, Takeshita H. DNase I. Structure, function, and use in Medicine and Forensic Science. Leg Med. 2001;3:69\u201383. https:\/\/doi.org\/10.1016\/S1344-6223(01)00004-9.","journal-title":"Leg Med"},{"key":"938_CR39","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1186\/s13075-015-0726-y","volume":"17","author":"J Leffler","year":"2015","unstructured":"Leffler J, Ciacma K, Gullstrand B, Bengtsson AA, Martin M, Blom AM. A subset of patients with systemic Lupus Erythematosus fails to degrade DNA from multiple clinically relevant sources. Arthritis Res Ther. 2015;17:205. https:\/\/doi.org\/10.1186\/s13075-015-0726-y.","journal-title":"Arthritis Res Ther"},{"key":"938_CR40","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.ajhg.2020.01.008","volume":"106","author":"DSC Han","year":"2020","unstructured":"Han DSC, Ni M, Chan RWY, Chan VWH, Lui KO, Chiu RWK, Lo YM. D. The Biology of cell-free DNA fragmentation and the roles of DNASE1, DNASE1L3, and DFFB. Am J Hum Genet. 2020;106:202\u201314. https:\/\/doi.org\/10.1016\/j.ajhg.2020.01.008.","journal-title":"Am J Hum Genet"},{"key":"938_CR41","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.3390\/biom10071036","volume":"10","author":"L Laukov\u00e1","year":"2020","unstructured":"Laukov\u00e1 L, Kone\u010dn\u00e1 B, Janovi\u010dov\u00e1 \u013d, Vlkov\u00e1 B, Celec P. Deoxyribonucleases and their applications in Biomedicine. Biomolecules. 2020;10:1036. https:\/\/doi.org\/10.3390\/biom10071036.","journal-title":"Biomolecules"},{"key":"938_CR42","doi-asserted-by":"crossref","unstructured":"Farrell RE. Resilient ribonucleases. In: RNA methodologies. Elsevier; 2010. pp. 155\u2013172. ISBN 978-0-12-374727-3.","DOI":"10.1016\/B978-0-12-374727-3.00007-3"},{"key":"938_CR43","doi-asserted-by":"publisher","unstructured":"Leonard NJ, McDonald JJ, Reichmann ME. Reaction of diethyl pyrocarbonate with nucleic acid components, I. Adenine. Proc Natl Acad Sci. 1970;67:93\u20138. https:\/\/doi.org\/10.1073\/pnas.67.1.93.","DOI":"10.1073\/pnas.67.1.93"},{"key":"938_CR44","doi-asserted-by":"publisher","first-page":"171","DOI":"10.3389\/fbioe.2020.00171","volume":"8","author":"D Calder\u00f3n-Franco","year":"2020","unstructured":"Calder\u00f3n-Franco D, Lin Q, Van Loosdrecht MCM, Abbas B, Weissbrodt DG. Anticipating Xenogenic Pollution at the source: impact of Sterilizations on DNA release from microbial cultures. Front Bioeng Biotechnol. 2020;8:171. https:\/\/doi.org\/10.3389\/fbioe.2020.00171.","journal-title":"Front Bioeng Biotechnol"},{"key":"938_CR45","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.jhin.2012.11.016","volume":"83","author":"JM Yap","year":"2013","unstructured":"Yap JM, Goldsmith CE, Moore JE. Integrity of Bacterial genomic DNA after autoclaving: possible implications for horizontal gene transfer and clinical Waste Management. J Hosp Infect. 2013;83:247\u20139. https:\/\/doi.org\/10.1016\/j.jhin.2012.11.016.","journal-title":"J Hosp Infect"},{"key":"938_CR46","doi-asserted-by":"publisher","first-page":"2110","DOI":"10.3390\/genes13112110","volume":"13","author":"Y Noguchi","year":"2022","unstructured":"Noguchi Y, Bo R, Nishio H, Matsumoto H, Matsui K, Yano Y, Sugawara M, Ueda G, Wijaya YOS, Niba ETE, et al. PCR-Based screening of spinal muscular atrophy for Newborn infants in Hyogo Prefecture, Japan. Genes. 2022;13:2110. https:\/\/doi.org\/10.3390\/genes13112110.","journal-title":"Genes"},{"key":"938_CR47","doi-asserted-by":"publisher","unstructured":"Alles J, Karaiskos N, Praktiknjo SD, Grosswendt S, Wahle P, Ruffault P-L, Ayoub S, Schreyer L, Boltengagen A, Birchmeier C, et al. Cell fixation and preservation for droplet-based single-cell transcriptomics. BMC Biol. 2017;15:44. https:\/\/doi.org\/10.1186\/s12915-017-0383-5.","DOI":"10.1186\/s12915-017-0383-5"},{"key":"938_CR48","doi-asserted-by":"publisher","first-page":"10909","DOI":"10.1021\/ac503172b","volume":"86","author":"AN Kuzmin","year":"2014","unstructured":"Kuzmin AN, Pliss A, Prasad PN. Changes in Biomolecular Profile in a single Nucleolus during cell fixation. Anal Chem. 2014;86:10909\u201316. https:\/\/doi.org\/10.1021\/ac503172b.","journal-title":"Anal Chem"},{"key":"938_CR49","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1186\/s12864-021-07744-6","volume":"22","author":"X Wang","year":"2021","unstructured":"Wang X, Yu L, Wu AR. The effect of methanol fixation on single-cell RNA sequencing data. BMC Genomics. 2021;22:420. https:\/\/doi.org\/10.1186\/s12864-021-07744-6.","journal-title":"BMC Genomics"},{"key":"938_CR50","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1093\/annonc\/mdv613","volume":"27","author":"AM Piskorz","year":"2016","unstructured":"Piskorz AM, Ennis D, Macintyre G, Goranova TE, Eldridge M, Segui-Gracia N, Valganon M, Hoyle A, Orange C, Moore L, et al. Methanol-based fixation is Superior to buffered Formalin for next-generation sequencing of DNA from Clinical Cancer samples. Ann Oncol. 2016;27:532\u20139. https:\/\/doi.org\/10.1093\/annonc\/mdv613.","journal-title":"Ann Oncol"},{"key":"938_CR51","doi-asserted-by":"publisher","first-page":"256","DOI":"10.4269\/ajtmh.17-0889","volume":"99","author":"MD Lim","year":"2018","unstructured":"Lim MD. Dried Blood Spots for Global Health Diagnostics and Surveillance: opportunities and challenges. Am J Trop Med Hyg. 2018;99:256\u201365. https:\/\/doi.org\/10.4269\/ajtmh.17-0889.","journal-title":"Am J Trop Med Hyg"},{"key":"938_CR52","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103\u201315. https:\/\/doi.org\/10.1016\/j.nmd.2017.11.005.","journal-title":"Neuromuscul Disord"},{"key":"938_CR53","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.braindev.2021.03.006","volume":"43","author":"YOS Wijaya","year":"2021","unstructured":"Wijaya YOS, Ar Rohmah M, Niba ETE, Morisada N, Noguchi Y, Hidaka Y, Ozasa S, Inoue T, Shimazu T, Takahashi Y, et al. Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain Dev. 2021;43:745\u201358. https:\/\/doi.org\/10.1016\/j.braindev.2021.03.006.","journal-title":"Brain Dev"},{"key":"938_CR54","doi-asserted-by":"publisher","first-page":"e505","DOI":"10.1212\/NXG.0000000000000505","volume":"6","author":"R Mendon\u00e7a","year":"2020","unstructured":"Mendon\u00e7a R, de Matsui H, Polido C, Silva GJ, Kulikowski AMS, Torchio Dias L, Zanardo A, Solla EA, Gurgel-Giannetti DJF, Moura J. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurol Genet. 2020;6:e505. https:\/\/doi.org\/10.1212\/NXG.0000000000000505. de.","journal-title":"Neurol Genet"},{"key":"938_CR55","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2147\/TACG.S239603","volume":"14","author":"MC Keinath","year":"2021","unstructured":"Keinath MC, Prior DE, Prior TW. Spinal muscular atrophy: mutations, testing, and clinical relevance. Appl Clin Genet. 2021;14:11\u201325. https:\/\/doi.org\/10.2147\/TACG.S239603.","journal-title":"Appl Clin Genet"},{"key":"938_CR56","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/jhg.2015.16","volume":"60","author":"Y Kubo","year":"2015","unstructured":"Kubo Y, Nishio H, Saito K. A New Method for SMN1 and hybrid SMN Gene Analysis in spinal muscular atrophy using Long-Range PCR followed by sequencing. J Hum Genet. 2015;60:233\u20139. https:\/\/doi.org\/10.1038\/jhg.2015.16.","journal-title":"J Hum Genet"},{"key":"938_CR57","doi-asserted-by":"publisher","first-page":"14873","DOI":"10.3390\/ijms241914873","volume":"24","author":"I Angilletta","year":"2023","unstructured":"Angilletta I, Ferrante R, Giansante R, Lombardi L, Babore A, Dell\u2019Elice A, Alessandrelli E, Notarangelo S, Ranaudo M, Palmarini C, et al. Spinal muscular atrophy: an evolving scenario through New perspectives in diagnosis and advances in therapies. Int J Mol Sci. 2023;24:14873. https:\/\/doi.org\/10.3390\/ijms241914873.","journal-title":"Int J Mol Sci"},{"key":"938_CR58","doi-asserted-by":"publisher","first-page":"117496","DOI":"10.1016\/j.cca.2023.117496","volume":"548","author":"J Tan","year":"2023","unstructured":"Tan J, Zhang J, Sun R, Jiang Z, Wang Y, Ma D, Jiao J, Chen H, Lin Y, Zhang Q, et al. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clin Chim Acta. 2023;548:117496. https:\/\/doi.org\/10.1016\/j.cca.2023.117496.","journal-title":"Clin Chim Acta"}],"container-title":["BMC Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12896-024-00938-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12896-024-00938-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12896-024-00938-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T23:36:45Z","timestamp":1739576205000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbiotechnol.biomedcentral.com\/articles\/10.1186\/s12896-024-00938-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,14]]},"references-count":58,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["938"],"URL":"https:\/\/doi.org\/10.1186\/s12896-024-00938-2","relation":{},"ISSN":["1472-6750"],"issn-type":[{"value":"1472-6750","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,14]]},"assertion":[{"value":"22 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was conducted according to the guidelines of the Declaration of Helsinki and was approved by the Medical and Health Research Ethics Committee (MHREC) at the Faculty of Medicine, Nursing, and Public Health, Universitas Gadjah Mada (reference number KE-FK-0467-EC-2023, approved on March 2023). Informed consent was obtained from all the subjects involved in the study. The manuscript did not contain any individual person\u2019s data in any form (including any individual details, images or videos).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17"}}