{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:46:18Z","timestamp":1792658778606,"version":"4.5.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T00:00:00Z","timestamp":1779062400000},"content-version":"vor","delay-in-days":40,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100012001","name":"Al Jalila Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020917","name":"Mohammed Bin Rashid University of Medicine and Health Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020917","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med"],"DOI":"10.1186\/s12916-026-04850-8","type":"journal-article","created":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T11:05:49Z","timestamp":1775646349000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness"],"prefix":"10.1186","volume":"24","author":[{"given":"Eman","family":"Abuijlan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sathishkumar","family":"Ramaswamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruchi","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikram","family":"Chekroun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Rabea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"El Naofal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syeda","family":"Khadija","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radwa","family":"Sharaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer S.","family":"Alkhnbashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alawi","family":"Alsheikh-Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Abou Tayoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,8]]},"reference":[{"key":"4850_CR1","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.spen.2008.01.003","volume":"15","author":"JB Bodensteiner","year":"2008","unstructured":"Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008;15:10\u201320.","journal-title":"Semin Pediatr Neurol"},{"key":"4850_CR2","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.clp.2015.02.008","volume":"42","author":"SE Sparks","year":"2015","unstructured":"Sparks SE. Neonatal hypotonia. Clin Perinatol. 2015;42:363\u201371. https:\/\/doi.org\/10.1016\/j.clp.2015.02.008.","journal-title":"Clin Perinatol"},{"key":"4850_CR3","doi-asserted-by":"publisher","unstructured":"K V MA, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP. Prader-Willi and Angelman Syndromes: Mechanisms and management. Ther Clin Risk Manag. 2023;16:41\u201352. https:\/\/doi.org\/10.2147\/TACG.S372708","DOI":"10.2147\/TACG.S372708"},{"key":"4850_CR4","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1038\/ejhg.2016.204","volume":"25","author":"A Quartier","year":"2017","unstructured":"Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, et al. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017;25:423\u201331. https:\/\/doi.org\/10.1038\/ejhg.2016.204.","journal-title":"Eur J Hum Genet"},{"key":"4850_CR5","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1111\/j.1469-8749.2011.03918.x","volume":"53","author":"EC Lisi","year":"2011","unstructured":"Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011;53:586\u201399. https:\/\/doi.org\/10.1111\/j.1469-8749.2011.03918.x.","journal-title":"Dev Med Child Neurol"},{"issue":"4","key":"4850_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1001\/jamaneurol.2022.0067","volume":"79","author":"SU Morton","year":"2022","unstructured":"Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, et al. Multicenter consensus approach to evaluation of neonatal hypotonia in the genomic era: a review. JAMA Neurol. 2022;79:405. https:\/\/doi.org\/10.1001\/jamaneurol.2022.0067.","journal-title":"JAMA Neurol"},{"key":"4850_CR7","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/s12017-013-8228-z","volume":"15","author":"A Pappalardo","year":"2013","unstructured":"Pappalardo A, Pitto L, Fiorillo C, Donati MA, Bruno C, Santorelli FM. Neuromuscular disorders in Zebrafish: state of the art and future perspectives. NeuroMol Med. 2013;15:405\u201319. https:\/\/doi.org\/10.1007\/s12017-013-8228-z.","journal-title":"NeuroMol Med"},{"key":"4850_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2023.08.034","volume":"149","author":"G Rathore","year":"2023","unstructured":"Rathore G, Kang PB. Pediatric neuromuscular diseases. Pediatr Neurol. 2023;149:1\u201314. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2023.08.034.","journal-title":"Pediatr Neurol"},{"key":"4850_CR9","doi-asserted-by":"publisher","DOI":"10.3390\/genes11050539","volume":"11","author":"L Gonzalez-Quereda","year":"2020","unstructured":"Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, et al. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain. Genes. 2020;11:539. https:\/\/doi.org\/10.3390\/genes11050539.","journal-title":"Genes"},{"key":"4850_CR10","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.nmd.2023.12.007","volume":"34","author":"L Benarroch","year":"2023","unstructured":"Benarroch L, Bonne G, Rivier F, Hamroun D. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2023;34:126\u201370. https:\/\/doi.org\/10.1016\/j.nmd.2023.12.007.","journal-title":"Neuromuscul Disord"},{"key":"4850_CR11","doi-asserted-by":"publisher","unstructured":"Fardeau M, Desguerre I. Diagnostic workup for neuromuscular diseases. In: Dulac O, Lassonde M, Sarnat HB, editors. Handbook of Clinical Neurology. Amsterdam: Elsevier; 2013;1291\u20137.\u00a0https:\/\/doi.org\/10.1016\/b978-0-444-59565-2.00001-0","DOI":"10.1016\/b978-0-444-59565-2.00001-0"},{"key":"4850_CR12","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1146\/annurev-med-042921-110721","volume":"74","author":"JA Sullivan","year":"2023","unstructured":"Sullivan JA, Schoch K, Spillmann RC, Shashi V. Exome\/genome sequencing in undiagnosed syndromes. Annu Rev Med. 2023;74:489\u2013502. https:\/\/doi.org\/10.1146\/annurev-med-042921-110721.","journal-title":"Annu Rev Med"},{"key":"4850_CR13","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1016\/j.ncl.2014.04.011","volume":"32","author":"CA Thornton","year":"2014","unstructured":"Thornton CA. Myotonic dystrophy. Neurol Clin. 2014;32:705\u201319. https:\/\/doi.org\/10.1016\/j.ncl.2014.04.011.","journal-title":"Neurol Clin"},{"issue":"1","key":"4850_CR14","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.65","volume":"3","author":"RJ Hagerman","year":"2017","unstructured":"Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Moine H, Kooy RF, et al. Fragile X syndrome. Nat Rev Dis Primers. 2017;3(1):17065. https:\/\/doi.org\/10.1038\/nrdp.2017.65.","journal-title":"Nat Rev Dis Primers"},{"key":"4850_CR15","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24119206","volume":"24","author":"CG Ciobanu","year":"2023","unstructured":"Ciobanu CG, Nuc\u0103 I, Popescu R, Antoci LM, Caba L, Ivanov AV, et al. Narrative review: update on the molecular diagnosis of Fragile X syndrome. Int J Mol Sci. 2023;24:9206. https:\/\/doi.org\/10.3390\/ijms24119206.","journal-title":"Int J Mol Sci"},{"key":"4850_CR16","doi-asserted-by":"publisher","DOI":"10.1038\/s43856-024-00548-1","volume":"4","author":"F Rabea","year":"2024","unstructured":"Rabea F, Naofal ME, Chekroun I, Khalaf M, Zaabi NA, AlZaabi K, et al. Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations. Commun Med. 2024;4:119. https:\/\/doi.org\/10.1038\/s43856-024-00548-1.","journal-title":"Commun Med"},{"key":"4850_CR17","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/j.ajhg.2025.01.002","volume":"112","author":"S Negi","year":"2025","unstructured":"Negi S, Stenton SL, Berger SI, Canigiula P, McNulty B, Violich I, et al. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. Am J Hum Genet. 2025;112:428\u201349. https:\/\/doi.org\/10.1016\/j.ajhg.2025.01.002.","journal-title":"Am J Hum Genet"},{"key":"4850_CR18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104871","volume":"66","author":"SY Yu","year":"2023","unstructured":"Yu SY, Xi YL, Xu FQ, Zhang J, Liu YS. Application of long-read sequencing in rare diseases: the longer, the better? Eur J Med Genet. 2023;66:104871. https:\/\/doi.org\/10.1016\/j.ejmg.2023.104871.","journal-title":"Eur J Med Genet"},{"key":"4850_CR19","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-023-01157-8","volume":"15","author":"ME Naofal","year":"2023","unstructured":"Naofal ME, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, et al. The genomic landscape of rare disorders in the Middle East. Genome Med. 2023;15:5. https:\/\/doi.org\/10.1186\/s13073-023-01157-8.","journal-title":"Genome Med"},{"key":"4850_CR20","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"key":"4850_CR21","volume-title":"wf-human-variation: Human variation workflow, version 2.6.0","author":"EPI2ME Labs","year":"2024","unstructured":"EPI2ME Labs. wf-human-variation: Human variation workflow, version 2.6.0. Oxford: Oxford Nanopore Technologies; 2024."},{"key":"4850_CR22","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/s41592-018-0001-7","volume":"15","author":"FJ Sedlazeck","year":"2018","unstructured":"Sedlazeck FJ, Rescheneder P, Smolka M, Fang H, Nattestad M, Von Haeseler A, et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018;15:461\u20138. https:\/\/doi.org\/10.1038\/s41592-018-0001-7.","journal-title":"Nat Methods"},{"issue":"1","key":"4850_CR23","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-020-02107-y","volume":"21","author":"T Jiang","year":"2020","unstructured":"Jiang T, Liu Y, Jiang Y, Li J, Gao Y, Cui Z, et al. Long-read-based human genomic structural variation detection with cuteSV. Genome Biol. 2020;21(1):189. https:\/\/doi.org\/10.1186\/s13059-020-02107-y.","journal-title":"Genome Biol"},{"key":"4850_CR24","doi-asserted-by":"publisher","first-page":"D789","DOI":"10.1093\/nar\/gku1205","volume":"43","author":"JS Amberger","year":"2014","unstructured":"Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: online mendelian inheritance in man (OMIM\u00ae), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2014;43:D789-98. https:\/\/doi.org\/10.1093\/nar\/gku1205.","journal-title":"Nucleic Acids Res"},{"key":"4850_CR25","doi-asserted-by":"publisher","first-page":"1732","DOI":"10.1016\/j.gim.2022.04.017","volume":"24","author":"MT DiStefano","year":"2022","unstructured":"DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, et al. The gene curation coalition: a global effort to harmonize gene\u2013disease evidence resources. Genet Med. 2022;24:1732\u201342. https:\/\/doi.org\/10.1016\/j.gim.2022.04.017.","journal-title":"Genet Med"},{"key":"4850_CR26","doi-asserted-by":"publisher","first-page":"2025","DOI":"10.1016\/s0140-6736(19)32910-1","volume":"394","author":"E Mercuri","year":"2019","unstructured":"Mercuri E, B\u00f6nnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394:2025\u201338. https:\/\/doi.org\/10.1016\/s0140-6736(19)32910-1.","journal-title":"Lancet"},{"key":"4850_CR27","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2017","unstructured":"Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2017;46:D1062-7. https:\/\/doi.org\/10.1093\/nar\/gkx1153.","journal-title":"Nucleic Acids Res"},{"key":"4850_CR28","doi-asserted-by":"publisher","first-page":"2235","DOI":"10.1056\/nejmsr1406261","volume":"372","author":"HL Rehm","year":"2015","unstructured":"Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen: the Clinical Genome Resource. N Engl J Med. 2015;372:2235\u201342. https:\/\/doi.org\/10.1056\/nejmsr1406261.","journal-title":"N Engl J Med"},{"key":"4850_CR29","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1089\/gtmb.2011.0115","volume":"16","author":"RS Henkhaus","year":"2011","unstructured":"Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, et al. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers. 2011;16:178\u201386. https:\/\/doi.org\/10.1089\/gtmb.2011.0115.","journal-title":"Genet Test Mol Biomarkers"},{"key":"4850_CR30","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-57695-9","volume":"16","author":"S Sinha","year":"2025","unstructured":"Sinha S, Rabea F, Ramaswamy S, Chekroun I, Naofal ME, Jain R, et al. Long-read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases. Nat Commun. 2025;16:2500. https:\/\/doi.org\/10.1038\/s41467-025-57695-9.","journal-title":"Nat Commun"},{"key":"4850_CR31","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26072850","volume":"26","author":"EN De Boer","year":"2025","unstructured":"De Boer EN, Scheper AJ, Hendriksen D, Charbon B, van der Vries G, Berge AMT, et al. Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders. Int J Mol Sci. 2025;26:2850. https:\/\/doi.org\/10.3390\/ijms26072850.","journal-title":"Int J Mol Sci"},{"key":"4850_CR32","volume-title":"The cost of delayed diagnosis in rare disease: a health economic study","author":"EveryLife Foundation for Rare Diseases","year":"2023","unstructured":"EveryLife Foundation for Rare Diseases. The cost of delayed diagnosis in rare disease: a health economic study. Silver Spring (MD): EveryLife Foundation for Rare Diseases; 2023."},{"key":"4850_CR33","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1002\/ana.22087","volume":"68","author":"L Bri\u00f1as","year":"2010","unstructured":"Bri\u00f1as L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lac\u00e8ne E, et al. Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol. 2010;68:511\u201320. https:\/\/doi.org\/10.1002\/ana.22087.","journal-title":"Ann Neurol"},{"key":"4850_CR34","first-page":"81","volume-title":"Handbook of Clinical Neurology","author":"CG B\u00f6nnemann","year":"2011","unstructured":"B\u00f6nnemann CG. The collagen VI-related myopathies. In: Dulac O, Lassonde M, Sarnat HB, editors. Handbook of Clinical Neurology. Amsterdam: Elsevier; 2011. p. 81\u201396."},{"issue":"11","key":"4850_CR35","doi-asserted-by":"publisher","first-page":"1558","DOI":"10.1002\/humu.22429","volume":"34","author":"RJ Butterfield","year":"2013","unstructured":"Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat. 2013;34(11):1558\u201367. https:\/\/doi.org\/10.1002\/humu.22429.","journal-title":"Hum Mutat"},{"key":"4850_CR36","unstructured":"ClinVar. Variation ID 449325. Bethesda (MD): National Center for Biotechnology Information (NCBI); 2025. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/449325\/."},{"key":"4850_CR37","unstructured":"ClinVar. Variation ID 581383. Bethesda (MD): National Center for Biotechnology Information (NCBI); 2025. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/581383\/."},{"issue":"2","key":"4850_CR38","doi-asserted-by":"publisher","DOI":"10.3390\/biom11020296","volume":"11","author":"V Nobile","year":"2021","unstructured":"Nobile V, Pucci C, Chiurazzi P, Neri G, Tabolacci E. DNA methylation, mechanisms of FMR1 inactivation and therapeutic perspectives for fragile X syndrome. Biomolecules. 2021;11(2):296. https:\/\/doi.org\/10.3390\/biom11020296.","journal-title":"Biomolecules"},{"key":"4850_CR39","unstructured":"Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993\u20132024. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1"},{"key":"4850_CR40","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.gene.2018.06.026","volume":"672","author":"AV Marakhonov","year":"2018","unstructured":"Marakhonov AV, Tabakov V, Zernov NV, Dadali EL, Sharkova IV, Skoblov M. Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. Gene. 2018;672:165\u201371. https:\/\/doi.org\/10.1016\/j.gene.2018.06.026.","journal-title":"Gene"},{"issue":"1","key":"4850_CR41","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-60761-9","volume":"14","author":"O Ozisik","year":"2024","unstructured":"Ozisik O, Gorokhova S, Cerino M, Bartoli M, Baudot A. System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Sci Rep. 2024;14(1):11225. https:\/\/doi.org\/10.1038\/s41598-024-60761-9.","journal-title":"Sci Rep"},{"issue":"8","key":"4850_CR42","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.9306","volume":"12","author":"M Kachuei","year":"2024","unstructured":"Kachuei M, Orangi K, Mohammadi A, Mohammadi M, Mojbafan M. Bethlem myopathy: a novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene. Clin Case Rep. 2024;12(8):e9306. https:\/\/doi.org\/10.1002\/ccr3.9306.","journal-title":"Clin Case Rep"}],"container-title":["BMC Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12916-026-04850-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12916-026-04850-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12916-026-04850-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T22:59:01Z","timestamp":1779058741000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12916-026-04850-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,8]]},"references-count":42,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4850"],"URL":"https:\/\/doi.org\/10.1186\/s12916-026-04850-8","relation":{},"ISSN":["1741-7015"],"issn-type":[{"value":"1741-7015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,8]]},"assertion":[{"value":"14 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All patients or the legal guardians of pediatric participants consented to clinical genetic testing under a de-identified research protocol which was reviewed and approved by the Dubai Scientific Research Ethics Committee, Dubai Health Authority (approvals no. DSREC-SR-05\/2024_03 and DSREC-08\/2024_09).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"307"}}