{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:45:19Z","timestamp":1792813519887,"version":"4.5.0"},"reference-count":127,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T00:00:00Z","timestamp":1762560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T00:00:00Z","timestamp":1762560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s00415-025-13478-2","type":"journal-article","created":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T15:11:36Z","timestamp":1762614696000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Past, present, and future of genomic technologies in cerebellar ataxias"],"prefix":"10.1007","volume":"272","author":[{"given":"Marie","family":"Lucain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlene","family":"Malbos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1185-1663","authenticated-orcid":false,"given":"Quentin","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,8]]},"reference":[{"key":"13478_CR1","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1097\/WCO.0b013e32832b9897","volume":"22","author":"M Manto","year":"2009","unstructured":"Manto M, Marmolino D (2009) Cerebellar ataxias. Curr Opin Neurol 22:419\u2013429. https:\/\/doi.org\/10.1097\/WCO.0b013e32832b9897","journal-title":"Curr Opin Neurol"},{"key":"13478_CR2","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1212\/CON.0000000000000753","volume":"25","author":"SH Kuo","year":"2019","unstructured":"Kuo SH (2019) Ataxia. Continuum 25:1036\u20131054. https:\/\/doi.org\/10.1212\/CON.0000000000000753","journal-title":"Continuum"},{"key":"13478_CR3","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1007\/s12311-017-0885-2","volume":"17","author":"MS Salman","year":"2018","unstructured":"Salman MS (2018) Epidemiology of cerebellar diseases and therapeutic approaches. Cerebellum 17:4\u201311","journal-title":"Cerebellum"},{"key":"13478_CR4","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","volume":"266","author":"R Sullivan","year":"2019","unstructured":"Sullivan R, Yau WY, O\u2019Connor E, Houlden H (2019) Spinocerebellar ataxia: an update. J Neurol 266:533\u2013544. https:\/\/doi.org\/10.1007\/s00415-018-9076-4","journal-title":"J Neurol"},{"key":"13478_CR5","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1002\/mdc3.12635","volume":"5","author":"M Rossi","year":"2018","unstructured":"Rossi M, Balint B, Millar Vernetti P et al (2018) Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach, and treatment options. Mov Disord Clin Pract 5:373\u2013382","journal-title":"Mov Disord Clin Pract"},{"key":"13478_CR6","doi-asserted-by":"publisher","first-page":"2030","DOI":"10.1016\/j.bbadis.2014.04.004","volume":"1842","author":"CJLM Smeets","year":"2014","unstructured":"Smeets CJLM, Verbeek DS (2014) Cerebellar ataxia and functional genomics: identifying the routes to cerebellar neurodegeneration. Biochim Biophys Acta Mol Basis Dis 1842:2030\u20132038","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"13478_CR7","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1007\/S00415-022-11383-6","volume":"270","author":"G Coarelli","year":"2023","unstructured":"Coarelli G, Wirth T, Tranchant C et al (2023) The inherited cerebellar ataxias: an update. J Neurol 270:208\u2013222. https:\/\/doi.org\/10.1007\/S00415-022-11383-6","journal-title":"J Neurol"},{"key":"13478_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/J.JMB.2023.168260","author":"O Lundstr\u00f6m","year":"2023","unstructured":"Lundstr\u00f6m O, Adriaan Verbiest M, Xia F et al (2023) WebSTR: a population-wide database of short tandem repeat variation in humans. J Mol Biol. https:\/\/doi.org\/10.1016\/J.JMB.2023.168260. ((Sachenkova))","journal-title":"J Mol Biol"},{"key":"13478_CR9","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1002\/ANA.25919","volume":"89","author":"VB Leotti","year":"2021","unstructured":"Leotti VB, de Vries JJ, Oliveira CM et al (2021) CAG repeat size influences the progression rate of spinocerebellar ataxia type 3. Ann Neurol 89:66\u201373. https:\/\/doi.org\/10.1002\/ANA.25919","journal-title":"Ann Neurol"},{"key":"13478_CR10","doi-asserted-by":"publisher","DOI":"10.1016\/J.CLINEURO.2022.107503","author":"Q Wang","year":"2022","unstructured":"Wang Q, Zhang C, Liu S et al (2022) Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review. Clin Neurol Neurosurg. https:\/\/doi.org\/10.1016\/J.CLINEURO.2022.107503","journal-title":"Clin Neurol Neurosurg"},{"key":"13478_CR11","doi-asserted-by":"publisher","first-page":"23243","DOI":"10.1073\/PNAS.1912175116","volume":"116","author":"A Sulovari","year":"2019","unstructured":"Sulovari A, Li R, Audano PA et al (2019) Human-specific tandem repeat expansion and differential gene expression during primate evolution. Proc Natl Acad Sci U S A 116:23243\u201323253. https:\/\/doi.org\/10.1073\/PNAS.1912175116","journal-title":"Proc Natl Acad Sci U S A"},{"key":"13478_CR12","doi-asserted-by":"publisher","first-page":"3669","DOI":"10.1111\/FEBS.14644","volume":"285","author":"WY Yau","year":"2018","unstructured":"Yau WY, O\u2019Connor E, Sullivan R et al (2018) DNA repair in trinucleotide repeat ataxias. FEBS J 285:3669\u20133682. https:\/\/doi.org\/10.1111\/FEBS.14644","journal-title":"FEBS J"},{"key":"13478_CR13","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/S13311-018-00696-Y","volume":"16","author":"RAM Buijsen","year":"2019","unstructured":"Buijsen RAM, Toonen LJA, Gardiner SL, van Roon-Mom WMC (2019) Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias. Neurotherapeutics 16:263\u2013286. https:\/\/doi.org\/10.1007\/S13311-018-00696-Y","journal-title":"Neurotherapeutics"},{"key":"13478_CR14","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1038\/S41582-022-00634-9","volume":"18","author":"M Beaudin","year":"2022","unstructured":"Beaudin M, Manto M, Schmahmann JD et al (2022) Recessive cerebellar and afferent ataxias - clinical challenges and future directions. Nat Rev Neurol 18:257\u2013272. https:\/\/doi.org\/10.1038\/S41582-022-00634-9","journal-title":"Nat Rev Neurol"},{"key":"13478_CR15","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3","author":"T Klockgether","year":"2019","unstructured":"Klockgether T, Mariotti C, Paulson HL (2019) Spinocerebellar ataxia. Nat Rev Dis Primers. https:\/\/doi.org\/10.1038\/s41572-019-0074-3","journal-title":"Nat Rev Dis Primers"},{"key":"13478_CR16","doi-asserted-by":"publisher","DOI":"10.1186\/S12859-020-03876-W","author":"Q Liu","year":"2020","unstructured":"Liu Q, Tong Y, Wang K (2020) Genome-wide detection of short tandem repeat expansions by long-read sequencing. BMC Bioinformatics. https:\/\/doi.org\/10.1186\/S12859-020-03876-W","journal-title":"BMC Bioinformatics"},{"key":"13478_CR17","doi-asserted-by":"publisher","first-page":"4","DOI":"10.20892\/J.ISSN.2095-3941.2018.0055","volume":"16","author":"D Qin","year":"2019","unstructured":"Qin D (2019) Next-generation sequencing and its clinical application. Cancer Biol Med 16:4\u201310. https:\/\/doi.org\/10.20892\/J.ISSN.2095-3941.2018.0055","journal-title":"Cancer Biol Med"},{"key":"13478_CR18","doi-asserted-by":"publisher","DOI":"10.3390\/BIOLOGY12070997","author":"H Satam","year":"2023","unstructured":"Satam H, Joshi K, Mangrolia U et al (2023) Next-generation sequencing technology: current trends and advancements. Biology. https:\/\/doi.org\/10.3390\/BIOLOGY12070997","journal-title":"Biology"},{"key":"13478_CR19","doi-asserted-by":"publisher","DOI":"10.1186\/S40478-021-01201-X","volume":"9","author":"SR Chintalaphani","year":"2021","unstructured":"Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR (2021) An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics. Acta Neuropathol Commun 9:98. https:\/\/doi.org\/10.1186\/S40478-021-01201-X","journal-title":"Acta Neuropathol Commun"},{"key":"13478_CR20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1146\/ANNUREV-GENOM-101722-103045","volume":"24","author":"PE Warburton","year":"2023","unstructured":"Warburton PE, Sebra RP (2023) Long-read DNA sequencing: recent advances and remaining challenges. Annu Rev Genomics Hum Genet 24:109\u2013132. https:\/\/doi.org\/10.1146\/ANNUREV-GENOM-101722-103045","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"13478_CR21","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1098\/RSPB.1975.0131","volume":"191","author":"F Sanger","year":"1975","unstructured":"Sanger F (1975) The croonian lecture, 1975. Nucleotide sequences in DNA. Proc R Soc Lond B Biol Sci 191:317\u2013333. https:\/\/doi.org\/10.1098\/RSPB.1975.0131","journal-title":"Proc R Soc Lond B Biol Sci"},{"key":"13478_CR22","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/PNAS.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74:5463\u20135467. https:\/\/doi.org\/10.1073\/PNAS.74.12.5463","journal-title":"Proc Natl Acad Sci U S A"},{"key":"13478_CR23","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0","author":"EM Southern","year":"1975","unstructured":"Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. https:\/\/doi.org\/10.1016\/S0022-2836(75)80083-0","journal-title":"J Mol Biol"},{"key":"13478_CR24","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.1016\/s0140-6736(05)67775-6","volume":"366","author":"A Harding","year":"2005","unstructured":"Harding A (2005) Sir Edwin Southern: scientist as problem solver. Lancet 366:1919. https:\/\/doi.org\/10.1016\/s0140-6736(05)67775-6","journal-title":"Lancet"},{"key":"13478_CR25","doi-asserted-by":"publisher","DOI":"10.1002\/0471142735.IM1006AS06","author":"T Brown","year":"2001","unstructured":"Brown T (2001) Southern blotting. Curr Protoc Immunol Chapter. https:\/\/doi.org\/10.1002\/0471142735.IM1006AS06","journal-title":"Curr Protoc Immunol Chapter"},{"key":"13478_CR26","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1089\/GTMB.2010.0073","volume":"14","author":"J Radvansky","year":"2010","unstructured":"Radvansky J, Kadasi L (2010) The expanding world of myotonic dystrophies: how can they be detected? Genet Test Mol Biomarkers 14:733\u2013741. https:\/\/doi.org\/10.1089\/GTMB.2010.0073","journal-title":"Genet Test Mol Biomarkers"},{"key":"13478_CR27","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/SCIENTIFICAMERICAN0490-56","volume":"262","author":"KB Mullis","year":"1990","unstructured":"Mullis KB (1990) The unusual origin of the polymerase chain reaction. Sci Am 262:56\u201365. https:\/\/doi.org\/10.1038\/SCIENTIFICAMERICAN0490-56","journal-title":"Sci Am"},{"key":"13478_CR28","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1126\/SCIENCE.1156409","volume":"322","author":"D Altshuler","year":"2008","unstructured":"Altshuler D, Daly MJ, Lander ES (2008) Genetic mapping in human disease. Science 322:881. https:\/\/doi.org\/10.1126\/SCIENCE.1156409","journal-title":"Science"},{"key":"13478_CR29","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1177\/1040638720905833","volume":"32","author":"BM Crossley","year":"2020","unstructured":"Crossley BM, Bai J, Glaser A et al (2020) Guidelines for sanger sequencing and molecular assay monitoring. J Vet Diagn Invest 32:767\u2013775. https:\/\/doi.org\/10.1177\/1040638720905833","journal-title":"J Vet Diagn Invest"},{"key":"13478_CR30","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/978-3-030-25905-1_4","volume":"111","author":"H Butz","year":"2019","unstructured":"Butz H, Pat\u00f3cs A (2019) Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next-generation sequencing, etc.). Exp Suppl 111:33\u201352. https:\/\/doi.org\/10.1007\/978-3-030-25905-1_4","journal-title":"Exp Suppl"},{"key":"13478_CR31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/JID.2013.1","volume":"133","author":"L Garibyan","year":"2013","unstructured":"Garibyan L, Avashia N (2013) Polymerase chain reaction. J Invest Dermatol 133:1\u20134. https:\/\/doi.org\/10.1038\/JID.2013.1","journal-title":"J Invest Dermatol"},{"key":"13478_CR32","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/NG0793-221","volume":"4","author":"HT Orr","year":"1993","unstructured":"Orr HT, Chung M, Banfi S et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221\u2013226. https:\/\/doi.org\/10.1038\/NG0793-221","journal-title":"Nat Genet"},{"key":"13478_CR33","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/7710","volume":"21","author":"MD Koob","year":"1999","unstructured":"Koob MD, Moseley ML, Schut LJ et al (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379\u2013384. https:\/\/doi.org\/10.1038\/7710","journal-title":"Nat Genet"},{"key":"13478_CR34","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1038\/S41587-023-01986-3","volume":"41","author":"R Rodriguez","year":"2023","unstructured":"Rodriguez R, Krishnan Y (2023) The chemistry of next-generation sequencing. Nat Biotechnol 41:1709\u20131715. https:\/\/doi.org\/10.1038\/S41587-023-01986-3","journal-title":"Nat Biotechnol"},{"key":"13478_CR35","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1056\/NEJMRA1711801","volume":"379","author":"DR Adams","year":"2018","unstructured":"Adams DR, Eng CM (2018) Next-generation sequencing to diagnose suspected genetic disorders. N Engl J Med 379:1353\u20131362. https:\/\/doi.org\/10.1056\/NEJMRA1711801","journal-title":"N Engl J Med"},{"key":"13478_CR36","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1016\/J.HUMIMM.2021.02.012","volume":"82","author":"T Hu","year":"2021","unstructured":"Hu T, Chitnis N, Monos D, Dinh A (2021) Next-generation sequencing technologies: an overview. Hum Immunol 82:801\u2013811. https:\/\/doi.org\/10.1016\/J.HUMIMM.2021.02.012","journal-title":"Hum Immunol"},{"key":"13478_CR37","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1093\/BIOINFORMATICS\/BTU170","volume":"30","author":"AM Bolger","year":"2014","unstructured":"Bolger AM, Lohse M, Usadel B (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30:2114\u20132120. https:\/\/doi.org\/10.1093\/BIOINFORMATICS\/BTU170","journal-title":"Bioinformatics"},{"key":"13478_CR38","doi-asserted-by":"publisher","DOI":"10.12688\/F1000RESEARCH.21142.2","author":"AD Smith","year":"2021","unstructured":"Smith AD, de Sena BG (2021) Falco: High-speed FastQC emulation for quality control of sequencing data. F1000Res. https:\/\/doi.org\/10.12688\/F1000RESEARCH.21142.2","journal-title":"F1000Res"},{"key":"13478_CR39","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/BIOINFORMATICS\/BTP324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760. https:\/\/doi.org\/10.1093\/BIOINFORMATICS\/BTP324","journal-title":"Bioinformatics"},{"key":"13478_CR40","doi-asserted-by":"publisher","first-page":"3094","DOI":"10.1093\/BIOINFORMATICS\/BTY191","volume":"34","author":"H Li","year":"2018","unstructured":"Li H (2018) Minimap2: pairwise alignment for nucleotide sequences. Bioinformatics 34:3094\u20133100. https:\/\/doi.org\/10.1093\/BIOINFORMATICS\/BTY191","journal-title":"Bioinformatics"},{"key":"13478_CR41","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/978-1-0716-2293-3_13","volume":"2493","author":"JS Brouard","year":"2022","unstructured":"Brouard JS, Bissonnette N (2022) Variant calling from RNA-seq data using the GATK joint genotyping workflow. Methods Mol Biol 2493:205\u2013233. https:\/\/doi.org\/10.1007\/978-1-0716-2293-3_13","journal-title":"Methods Mol Biol"},{"key":"13478_CR42","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2022.887644\/PDF","author":"T L\u00fcth","year":"2022","unstructured":"L\u00fcth T, Schaake S, Gr\u00fcnewald A et al (2022) Benchmarking low-frequency variant calling with long-read data on mitochondrial DNA. Front Genet. https:\/\/doi.org\/10.3389\/FGENE.2022.887644\/PDF","journal-title":"Front Genet"},{"key":"13478_CR43","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1038\/NBT.4235","volume":"36","author":"R Poplin","year":"2018","unstructured":"Poplin R, Chang PC, Alexander D et al (2018) A universal snp and small-indel variant caller using deep neural networks. Nat Biotechnol 36:983. https:\/\/doi.org\/10.1038\/NBT.4235","journal-title":"Nat Biotechnol"},{"key":"13478_CR44","doi-asserted-by":"publisher","DOI":"10.1093\/NAR\/GKQ603","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. https:\/\/doi.org\/10.1093\/NAR\/GKQ603","journal-title":"Nucleic Acids Res"},{"key":"13478_CR45","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/FLY.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6:80\u201392. https:\/\/doi.org\/10.4161\/FLY.19695","journal-title":"Fly (Austin)"},{"key":"13478_CR46","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1002\/HUMU.24298","volume":"43","author":"SE Hunt","year":"2022","unstructured":"Hunt SE, Moore B, Amode RM et al (2022) Annotating and prioritizing genomic variants using the Ensembl variant effect predictor\u2014a tutorial. Hum Mutat 43:986\u2013997. https:\/\/doi.org\/10.1002\/HUMU.24298","journal-title":"Hum Mutat"},{"key":"13478_CR47","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/S41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, Francioli LC, Goodrich JK et al (2024) A genomic mutational constraint map using variation in 76,156 human genomes. Nature 625:92\u2013100. https:\/\/doi.org\/10.1038\/S41586-023-06045-0","journal-title":"Nature"},{"issue":"D1","key":"13478_CR48","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch P, Witten D, Cooper GM et al (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47(D1):D886\u2013D894. https:\/\/doi.org\/10.1093\/nar\/gky1016","journal-title":"Nucleic Acids Res"},{"key":"13478_CR49","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V et al (2016) Revel: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet 99:877. https:\/\/doi.org\/10.1016\/J.AJHG.2016.08.016","journal-title":"Am J Hum Genet"},{"key":"13478_CR50","doi-asserted-by":"publisher","DOI":"10.1186\/S40246-023-00451-1","author":"JM de Sainte Agathe","year":"2023","unstructured":"de Sainte Agathe JM, Filser M, Isidor B et al (2023) SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum Genomics. https:\/\/doi.org\/10.1186\/S40246-023-00451-1","journal-title":"Hum Genomics"},{"key":"13478_CR51","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 et al (2015) 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 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"13478_CR52","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/S13353-011-0057-X","volume":"52","author":"CS Pareek","year":"2011","unstructured":"Pareek CS, Smoczynski R, Tretyn A (2011) Sequencing technologies and genome sequencing. J Appl Genet 52:413\u2013435. https:\/\/doi.org\/10.1007\/S13353-011-0057-X","journal-title":"J Appl Genet"},{"key":"13478_CR53","unstructured":"Wetterstrand K (2023) DNA Sequencing Costs: Data. https:\/\/www.genome.gov\/about-genomics\/fact-sheets\/DNA-Sequencing-Costs-Data. Accessed 8 Oct 2025"},{"key":"13478_CR54","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/2191-1991-3-29","volume":"3","author":"M Frank","year":"2013","unstructured":"Frank M, Prenzler A, Eils R, von der Schulenburg JMG (2013) Genome sequencing: a systematic review of health economic evidence. Health Econ Rev 3:1\u20138. https:\/\/doi.org\/10.1186\/2191-1991-3-29","journal-title":"Health Econ Rev"},{"key":"13478_CR55","doi-asserted-by":"publisher","DOI":"10.1002\/CPMB.59","author":"BE Slatko","year":"2018","unstructured":"Slatko BE, Gardner AF, Ausubel FM (2018) Overview of next-generation sequencing technologies. Curr Protoc Mol Biol. https:\/\/doi.org\/10.1002\/CPMB.59","journal-title":"Curr Protoc Mol Biol"},{"key":"13478_CR56","doi-asserted-by":"publisher","DOI":"10.1007\/S10048-017-0532-6","author":"D Galatolo","year":"2018","unstructured":"Galatolo D, Tessa A, Filla A, Santorelli FM (2018) Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics. https:\/\/doi.org\/10.1007\/S10048-017-0532-6","journal-title":"Neurogenetics"},{"key":"13478_CR57","doi-asserted-by":"publisher","DOI":"10.1093\/EURPUB\/CKV176.184","author":"M Van","year":"2015","unstructured":"Van M, Bulcke D, Van Den Bulcke M et al (2015) Implementation of next-generation-sequencing in oncology and heamatology: a belgian feasibility study: Marc Van Den Bulcke. Eur J Public Health. https:\/\/doi.org\/10.1093\/EURPUB\/CKV176.184","journal-title":"Eur J Public Health"},{"key":"13478_CR58","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2018.00020","author":"P Dunn","year":"2018","unstructured":"Dunn P, Albury CL, Maksemous N et al (2018) Next generation sequencing methods for diagnosis of epilepsy syndromes. Front Genet. https:\/\/doi.org\/10.3389\/FGENE.2018.00020","journal-title":"Front Genet"},{"key":"13478_CR59","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1016\/J.RMR.2023.01.026","volume":"40","author":"M Georget","year":"2023","unstructured":"Georget M, Pisan E (2023) Next Generation Sequencing (NGS) for beginners. Rev Mal Respir 40:345\u2013358. https:\/\/doi.org\/10.1016\/J.RMR.2023.01.026","journal-title":"Rev Mal Respir"},{"key":"13478_CR60","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 (2023) Exome\/Genome sequencing in undiagnosed syndromes. Annu Rev Med 74:489\u2013502. https:\/\/doi.org\/10.1146\/ANNUREV-MED-042921-110721","journal-title":"Annu Rev Med"},{"key":"13478_CR61","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/S1474-4422(20)30312-4","volume":"19","author":"M Zech","year":"2020","unstructured":"Zech M, Jech R, Boesch S et al (2020) Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19:908\u2013918. https:\/\/doi.org\/10.1016\/S1474-4422(20)30312-4","journal-title":"Lancet Neurol"},{"key":"13478_CR62","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1002\/AJMG.A.63190","volume":"191","author":"O Gorukmez","year":"2023","unstructured":"Gorukmez O, Gorukmez O, Topak A (2023) Clinical exome sequencing findings in 1589 patients. Am J Med Genet A 191:1557\u20131564. https:\/\/doi.org\/10.1002\/AJMG.A.63190","journal-title":"Am J Med Genet A"},{"key":"13478_CR63","doi-asserted-by":"publisher","DOI":"10.1186\/S13073-022-01026-W","author":"S Marwaha","year":"2022","unstructured":"Marwaha S, Knowles JW, Ashley EA (2022) A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. https:\/\/doi.org\/10.1186\/S13073-022-01026-W","journal-title":"Genome Med"},{"key":"13478_CR64","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/NRNEUROL.2012.148","volume":"8","author":"JN Foo","year":"2012","unstructured":"Foo JN, Liu JJ, Tan EK (2012) Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol 8:508\u2013517. https:\/\/doi.org\/10.1038\/NRNEUROL.2012.148","journal-title":"Nat Rev Neurol"},{"key":"13478_CR65","doi-asserted-by":"publisher","DOI":"10.1186\/1753-6561-8-S1-S38","author":"S Lacey","year":"2014","unstructured":"Lacey S, Chung JY, Lin H (2014) A comparison of whole genome sequencing with exome sequencing for family-based association studies. BMC Proc. https:\/\/doi.org\/10.1186\/1753-6561-8-S1-S38","journal-title":"BMC Proc"},{"key":"13478_CR66","doi-asserted-by":"publisher","DOI":"10.3390\/CANCERS13246283","author":"M Gabrielaite","year":"2021","unstructured":"Gabrielaite M, Torp MH, Rasmussen MS et al (2021) A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data. Cancers (Basel). https:\/\/doi.org\/10.3390\/CANCERS13246283","journal-title":"Cancers (Basel)"},{"key":"13478_CR67","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/NRG.2016.49","volume":"17","author":"S Goodwin","year":"2016","unstructured":"Goodwin S, McPherson JD, McCombie WR (2016) Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet 17:333\u2013351. https:\/\/doi.org\/10.1038\/NRG.2016.49","journal-title":"Nat Rev Genet"},{"key":"13478_CR68","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2022.810595","author":"Z Liu","year":"2022","unstructured":"Liu Z, Zhao G, Xiao Y et al (2022) Profiling the genome-wide landscape of short tandem repeats by long-read sequencing. Front Genet. https:\/\/doi.org\/10.3389\/FGENE.2022.810595","journal-title":"Front Genet"},{"key":"13478_CR69","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1007\/S00439-015-1631-9","volume":"135","author":"J Meienberg","year":"2016","unstructured":"Meienberg J, Bruggmann R, Oexle K, Matyas G (2016) Clinical sequencing: is WGS the better WES? Hum Genet 135:359\u2013362. https:\/\/doi.org\/10.1007\/S00439-015-1631-9","journal-title":"Hum Genet"},{"key":"13478_CR70","doi-asserted-by":"publisher","DOI":"10.1136\/JMG-2022-108924","author":"J-L M\u00e9reaux","year":"2023","unstructured":"M\u00e9reaux J-L, Davoine C-S, Coutelier M et al (2023) Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes. J Med Genet. https:\/\/doi.org\/10.1136\/JMG-2022-108924","journal-title":"J Med Genet"},{"key":"13478_CR71","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1038\/S41576-024-00692-3","volume":"25","author":"HA Tanudisastro","year":"2024","unstructured":"Tanudisastro HA, Deveson IW, Dashnow H, MacArthur DG (2024) Sequencing and characterizing short tandem repeats in the human genome. Nat Rev Genet 25:460\u2013475. https:\/\/doi.org\/10.1038\/S41576-024-00692-3","journal-title":"Nat Rev Genet"},{"key":"13478_CR72","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1042\/ETLS20230019","volume":"7","author":"JL Read","year":"2023","unstructured":"Read JL, Davies KC, Thompson GC et al (2023) Challenges facing repeat expansion identification, characterisation, and the pathway to discovery. Emerg Top Life Sci 7:339\u2013348. https:\/\/doi.org\/10.1042\/ETLS20230019","journal-title":"Emerg Top Life Sci"},{"key":"13478_CR73","doi-asserted-by":"publisher","DOI":"10.1093\/NAR\/GKAC775","author":"TT Bizuayehu","year":"2022","unstructured":"Bizuayehu TT, Labun K, Jakubec M et al (2022) Long-read single-molecule RNA structure sequencing using nanopore. Nucleic Acids Res. https:\/\/doi.org\/10.1093\/NAR\/GKAC775","journal-title":"Nucleic Acids Res"},{"key":"13478_CR74","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/J.CHEMBIOL.2010.07.004","volume":"17","author":"A Mccarthy","year":"2010","unstructured":"Mccarthy A (2010) Third generation DNA sequencing: pacific biosciences\u2019 single molecule real time technology. Chem Biol 17:675\u2013676. https:\/\/doi.org\/10.1016\/J.CHEMBIOL.2010.07.004","journal-title":"Chem Biol"},{"key":"13478_CR75","doi-asserted-by":"publisher","DOI":"10.3390\/BIOS11070214","author":"B Lin","year":"2021","unstructured":"Lin B, Hui J, Mao H (2021) Nanopore technology and its applications in gene sequencing. Biosensors. https:\/\/doi.org\/10.3390\/BIOS11070214","journal-title":"Biosensors"},{"key":"13478_CR76","doi-asserted-by":"publisher","DOI":"10.3390\/BIOM14050568","author":"C Scarano","year":"2024","unstructured":"Scarano C, Veneruso I, De Simone RR et al (2024) The third-generation sequencing challenge: novel insights for the omic sciences. Biomolecules. https:\/\/doi.org\/10.3390\/BIOM14050568","journal-title":"Biomolecules"},{"key":"13478_CR77","doi-asserted-by":"publisher","DOI":"10.3390\/MI14020459","author":"M MacKenzie","year":"2023","unstructured":"MacKenzie M, Argyropoulos C (2023) An introduction to Nanopore sequencing: past, present, and future considerations. Micromachines. https:\/\/doi.org\/10.3390\/MI14020459","journal-title":"Micromachines"},{"key":"13478_CR78","doi-asserted-by":"publisher","DOI":"10.3390\/LIFE12010030","author":"K Athanasopoulou","year":"2021","unstructured":"Athanasopoulou K, Boti MA, Adamopoulos PG et al (2021) Third-generation sequencing: the spearhead towards the radical transformation of modern genomics. Life. https:\/\/doi.org\/10.3390\/LIFE12010030","journal-title":"Life"},{"key":"13478_CR79","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1002\/HUMU.24465","volume":"43","author":"LK Conlin","year":"2022","unstructured":"Conlin LK, Aref-Eshghi E, McEldrew DA et al (2022) Long-read sequencing for molecular diagnostics in constitutional genetic disorders. Hum Mutat 43:1531\u20131544. https:\/\/doi.org\/10.1002\/HUMU.24465","journal-title":"Hum Mutat"},{"key":"13478_CR80","doi-asserted-by":"publisher","DOI":"10.1016\/J.GIMO.2025.102369","volume":"3","author":"A Jain","year":"2025","unstructured":"Jain A, Udine E, Farris J et al (2025) P528: utilizing long-read sequencing technologies to enable discovery of disease genes associated with complex neurological phenotypes. Genet Med Open 3:102369. https:\/\/doi.org\/10.1016\/J.GIMO.2025.102369","journal-title":"Genet Med Open"},{"key":"13478_CR81","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAC377","author":"H Erdmann","year":"2022","unstructured":"Erdmann H, Sch\u00f6berl F, Giurgiu M et al (2022) Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing. Brain. https:\/\/doi.org\/10.1093\/BRAIN\/AWAC377","journal-title":"Brain"},{"key":"13478_CR82","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","volume":"51","author":"J Sone","year":"2019","unstructured":"Sone J, Mitsuhashi S, Fujita A et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51:1215\u20131221","journal-title":"Nat Genet"},{"key":"13478_CR83","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200036","author":"KA King","year":"2022","unstructured":"King KA, Wegner DJ, Bucelli RC et al (2022) Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS Syndrome. Neurol Genet. https:\/\/doi.org\/10.1212\/NXG.0000000000200036","journal-title":"Neurol Genet"},{"key":"13478_CR84","doi-asserted-by":"publisher","DOI":"10.1093\/BRAINCOMMS\/FCAD020","author":"B Uppili","year":"2023","unstructured":"Uppili B, Sharma P, Ahmad I et al (2023) Sequencing through hyperexpanded Friedreich\u2019s ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation. Brain Commun. https:\/\/doi.org\/10.1093\/BRAINCOMMS\/FCAD020","journal-title":"Brain Commun"},{"key":"13478_CR85","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1038\/S41576-023-00683-W","volume":"25","author":"KD Kernohan","year":"2024","unstructured":"Kernohan KD, Boycott KM (2024) The expanding diagnostic toolbox for rare genetic diseases. Nat Rev Genet 25:401\u2013415. https:\/\/doi.org\/10.1038\/S41576-023-00683-W","journal-title":"Nat Rev Genet"},{"key":"13478_CR86","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1038\/S41592-022-01730-W","volume":"20","author":"V Marx","year":"2023","unstructured":"Marx V (2023) Method of the year: long-read sequencing. Nat Methods 20:6\u201311. https:\/\/doi.org\/10.1038\/S41592-022-01730-W","journal-title":"Nat Methods"},{"key":"13478_CR87","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1038\/S41576-019-0150-2","volume":"20","author":"R Stark","year":"2019","unstructured":"Stark R, Grzelak M, Hadfield J (2019) RNA sequencing: the teenage years. Nat Rev Genet 20:631\u2013656. https:\/\/doi.org\/10.1038\/S41576-019-0150-2","journal-title":"Nat Rev Genet"},{"key":"13478_CR88","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/CGE.14358","volume":"104","author":"F Riant","year":"2023","unstructured":"Riant F, Burglen L, Corpechot M et al (2023) Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia. Clin Genet 104:365\u2013370. https:\/\/doi.org\/10.1111\/CGE.14358","journal-title":"Clin Genet"},{"key":"13478_CR89","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1016\/J.AJHG.2021.05.012","volume":"108","author":"T Mantere","year":"2021","unstructured":"Mantere T, Neveling K, Pebrel-Richard C et al (2021) Optical genome mapping enables constitutional chromosomal aberration detection. Am J Hum Genet 108:1409\u20131422. https:\/\/doi.org\/10.1016\/J.AJHG.2021.05.012","journal-title":"Am J Hum Genet"},{"key":"13478_CR90","doi-asserted-by":"publisher","DOI":"10.3390\/GENES12030398","author":"NS Sahajpal","year":"2021","unstructured":"Sahajpal NS, Barseghyan H, Kolhe R et al (2021) Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses. Genes. https:\/\/doi.org\/10.3390\/GENES12030398","journal-title":"Genes"},{"key":"13478_CR91","doi-asserted-by":"publisher","DOI":"10.3390\/BIOM13101546","author":"S Facchini","year":"2023","unstructured":"Facchini S, Dominik N, Manini A et al (2023) Optical genome mapping enables detection and accurate sizing of RFC1 repeat expansions. Biomolecules. https:\/\/doi.org\/10.3390\/BIOM13101546","journal-title":"Biomolecules"},{"key":"13478_CR92","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1016\/J.CELL.2019.06.036","volume":"178","author":"JM Lee","year":"2019","unstructured":"Lee JM, Correia K, Loupe J et al (2019) CAG repeat not polyglutamine length determines timing of Huntington\u2019s disease onset. Cell 178:887-900.e14. https:\/\/doi.org\/10.1016\/J.CELL.2019.06.036","journal-title":"Cell"},{"key":"13478_CR93","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1186\/S40478-018-0547-8","volume":"6","author":"C Fournier","year":"2018","unstructured":"Fournier C, Anquetil V, Camuzat A et al (2018) Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias. Acta Neuropathol Commun 6:41. https:\/\/doi.org\/10.1186\/S40478-018-0547-8","journal-title":"Acta Neuropathol Commun"},{"key":"13478_CR94","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/SCIENCE.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, Montermini L, Molt\u00f2 MD et al (1996) Friedreich\u2019s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423\u20131427. https:\/\/doi.org\/10.1126\/SCIENCE.271.5254.1423","journal-title":"Science"},{"key":"13478_CR95","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2021.638730","author":"A Yahia","year":"2021","unstructured":"Yahia A, Stevanin G (2021) The history of gene hunting in hereditary spinocerebellar degeneration: lessons from the past and future perspectives. Front Genet. https:\/\/doi.org\/10.3389\/FGENE.2021.638730","journal-title":"Front Genet"},{"key":"13478_CR96","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1038\/EJHG.2016.42","volume":"24","author":"BP Van De Warrenburg","year":"2016","unstructured":"Van De Warrenburg BP, Schouten MI, De Bot ST et al (2016) Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. Eur J Hum Genet 24:1460\u20131466. https:\/\/doi.org\/10.1038\/EJHG.2016.42","journal-title":"Eur J Hum Genet"},{"key":"13478_CR97","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1007\/S13311-019-00823-3","volume":"16","author":"LM Ellerby","year":"2019","unstructured":"Ellerby LM (2019) Repeat expansion disorders: mechanisms and therapeutics. Neurotherapeutics 16:924\u2013927. https:\/\/doi.org\/10.1007\/S13311-019-00823-3","journal-title":"Neurotherapeutics"},{"key":"13478_CR98","doi-asserted-by":"publisher","DOI":"10.3390\/BIOMEDICINES9111499","author":"CS McIntosh","year":"2021","unstructured":"McIntosh CS, Li D, Wilton SD, Aung-Htut MT (2021) Polyglutamine ataxias: our current molecular understanding and what the future holds for antisense therapies. Biomedicines. https:\/\/doi.org\/10.3390\/BIOMEDICINES9111499","journal-title":"Biomedicines"},{"key":"13478_CR99","doi-asserted-by":"publisher","DOI":"10.3389\/FNAGI.2022.750629","author":"L Barb\u00e9","year":"2022","unstructured":"Barb\u00e9 L, Finkbeiner S (2022) Genetic and epigenetic interplay define disease onset and severity in repeat diseases. Front Aging Neurosci. https:\/\/doi.org\/10.3389\/FNAGI.2022.750629","journal-title":"Front Aging Neurosci"},{"key":"13478_CR100","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"321","author":"AE Harding","year":"1983","unstructured":"Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 321:1151\u20131155","journal-title":"Lancet"},{"key":"13478_CR101","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/B978-0-444-64189-2.00010-X","volume":"155","author":"BW Soong","year":"2018","unstructured":"Soong BW, Morrison PJ (2018) Spinocerebellar ataxias. Handb Clin Neurol 155:143\u2013174. https:\/\/doi.org\/10.1016\/B978-0-444-64189-2.00010-X","journal-title":"Handb Clin Neurol"},{"key":"13478_CR102","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/S100720100017","volume":"22","author":"S Di Donato","year":"2001","unstructured":"Di Donato S, Gellera C, Mariotti C (2001) The complex clinical and genetic classification of inherited ataxias. Part II. Autosomal recessive ataxias. Neurol Sci 22:219\u2013228. https:\/\/doi.org\/10.1007\/S100720100017","journal-title":"Neurol Sci"},{"key":"13478_CR103","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1097\/00019052-200008000-00007","volume":"13","author":"A Durr","year":"2000","unstructured":"Durr A, Brice A (2000) Clinical and genetic aspects of spinocerebellar degeneration. Curr Opin Neurol 13:407\u2013413. https:\/\/doi.org\/10.1097\/00019052-200008000-00007","journal-title":"Curr Opin Neurol"},{"key":"13478_CR104","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1002\/MDS.27415","volume":"33","author":"M Rossi","year":"2018","unstructured":"Rossi M, Anheim M, Durr A et al (2018) The genetic nomenclature of recessive cerebellar ataxias. Mov Disord 33:1056\u20131076. https:\/\/doi.org\/10.1002\/MDS.27415","journal-title":"Mov Disord"},{"key":"13478_CR105","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/MDS.26944","volume":"32","author":"M Synofzik","year":"2017","unstructured":"Synofzik M, Sch\u00fcle R (2017) Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord 32:332\u2013345. https:\/\/doi.org\/10.1002\/MDS.26944","journal-title":"Mov Disord"},{"key":"13478_CR106","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1016\/J.JACI.2020.08.022","volume":"147","author":"CD Platt","year":"2021","unstructured":"Platt CD, Zaman F, Bainter W et al (2021) Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. J Allergy Clin Immunol 147:723\u2013726. https:\/\/doi.org\/10.1016\/J.JACI.2020.08.022","journal-title":"J Allergy Clin Immunol"},{"key":"13478_CR107","doi-asserted-by":"publisher","DOI":"10.3389\/FNEUR.2023.1170005","author":"M Ek","year":"2023","unstructured":"Ek M, Nilsson D, Engvall M et al (2023) Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and\/or neuromuscular disorders. Front Neurol. https:\/\/doi.org\/10.3389\/FNEUR.2023.1170005","journal-title":"Front Neurol"},{"key":"13478_CR108","doi-asserted-by":"publisher","DOI":"10.3390\/IJMS242216400","author":"D Mart\u00ednez-Rubio","year":"2023","unstructured":"Mart\u00ednez-Rubio D, Hinarejos I, Argente-Escrig H et al (2023) Genetic heterogeneity underlying phenotypes with early-onset cerebellar atrophy. Int J Mol Sci. https:\/\/doi.org\/10.3390\/IJMS242216400","journal-title":"Int J Mol Sci"},{"key":"13478_CR109","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1001\/jamaneurol.2017.5121","volume":"75","author":"M Coutelier","year":"2018","unstructured":"Coutelier M, Hammer MB, Stevanin G et al (2018) Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol 75:591\u2013599. https:\/\/doi.org\/10.1001\/jamaneurol.2017.5121","journal-title":"JAMA Neurol"},{"key":"13478_CR110","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1038\/s41436-018-0007-7","volume":"21","author":"M Sun","year":"2019","unstructured":"Sun M, Johnson AK, Nelakuditi V et al (2019) Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med 21:195\u2013206. https:\/\/doi.org\/10.1038\/s41436-018-0007-7","journal-title":"Genet Med"},{"key":"13478_CR111","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1002\/humu.22451","volume":"35","author":"SL Sawyer","year":"2014","unstructured":"Sawyer SL, Schwartzentruber J, Beaulieu CL et al (2014) Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat 35:45\u201349. https:\/\/doi.org\/10.1002\/humu.22451","journal-title":"Hum Mutat"},{"key":"13478_CR112","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/S12311-021-01268-1","volume":"21","author":"FF da Gra\u00e7a","year":"2022","unstructured":"da Gra\u00e7a FF, Peluzzo TM, Bonadia LC et al (2022) Diagnostic yield of whole exome sequencing for adults with ataxia: a Brazilian perspective. Cerebellum 21:49\u201354. https:\/\/doi.org\/10.1007\/S12311-021-01268-1","journal-title":"Cerebellum"},{"key":"13478_CR113","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.1007\/S12311-023-01629-Y","volume":"23","author":"RB Tenorio","year":"2024","unstructured":"Tenorio RB, Camargo CHF, Donis KC et al (2024) Diagnostic yield of NGS tests for hereditary ataxia: a systematic review. Cerebellum 23:1552\u20131565. https:\/\/doi.org\/10.1007\/S12311-023-01629-Y","journal-title":"Cerebellum"},{"key":"13478_CR114","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1038\/S41436-018-0089-2","volume":"21","author":"S Valence","year":"2019","unstructured":"Valence S, Cochet E, Rougeot C et al (2019) Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet Med 21:553\u2013563. https:\/\/doi.org\/10.1038\/S41436-018-0089-2","journal-title":"Genet Med"},{"key":"13478_CR115","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1002\/humu.23946","volume":"41","author":"KJ Ngo","year":"2020","unstructured":"Ngo KJ, Rexach JE, Lee H et al (2020) A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41:487\u2013501. https:\/\/doi.org\/10.1002\/humu.23946","journal-title":"Hum Mutat"},{"key":"13478_CR116","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/S12311-019-01038-0","volume":"18","author":"A Kim","year":"2019","unstructured":"Kim A, Kumar KR, Davis RL et al (2019) Increased diagnostic yield of spastic paraplegia with or without cerebellar ataxia through whole-genome sequencing. Cerebellum 18:781\u2013790. https:\/\/doi.org\/10.1007\/S12311-019-01038-0","journal-title":"Cerebellum"},{"key":"13478_CR117","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1038\/s41586-024-07773-7","volume":"632","author":"Y Chen","year":"2024","unstructured":"Chen Y, Dawes R, Kim HC et al (2024) De novo variants in the RNU4\u20132 snRNA cause a frequent neurodevelopmental syndrome. Nature 632:832\u2013840. https:\/\/doi.org\/10.1038\/s41586-024-07773-7","journal-title":"Nature"},{"key":"13478_CR118","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","volume":"51","author":"A Cortese","year":"2019","unstructured":"Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649\u2013658. https:\/\/doi.org\/10.1038\/s41588-019-0372-4","journal-title":"Nat Genet"},{"key":"13478_CR119","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1056\/nejmoa2207406","volume":"388","author":"D Pellerin","year":"2023","unstructured":"Pellerin D, Danzi MC, Wilke C et al (2023) Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 388:128\u2013141. https:\/\/doi.org\/10.1056\/nejmoa2207406","journal-title":"N Engl J Med"},{"key":"13478_CR120","doi-asserted-by":"publisher","first-page":"1950","DOI":"10.1002\/MDS.29560","volume":"38","author":"T Wirth","year":"2023","unstructured":"Wirth T, Cl\u00e9ment G, Delvall\u00e9e C et al (2023) Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B). Mov Disord 38:1950\u20131956. https:\/\/doi.org\/10.1002\/MDS.29560","journal-title":"Mov Disord"},{"key":"13478_CR121","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2023.05.005","volume":"110","author":"H Rafehi","year":"2023","unstructured":"Rafehi H, Read J, Szmulewicz DJ et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B\/ATX-FGF14. Am J Hum Genet 110:1018. https:\/\/doi.org\/10.1016\/J.AJHG.2023.05.005","journal-title":"Am J Hum Genet"},{"key":"13478_CR122","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/S00439-024-02644-7","volume":"143","author":"M Sanchez-Flores","year":"2024","unstructured":"Sanchez-Flores M, Corral-Juan M, Gasch-Naval\u00f3n E et al (2024) Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37. Hum Genet 143:211\u2013232. https:\/\/doi.org\/10.1007\/S00439-024-02644-7","journal-title":"Hum Genet"},{"key":"13478_CR123","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/MDS.29704","volume":"39","author":"Z Chen","year":"2024","unstructured":"Chen Z, Gustavsson EK, Macpherson H et al (2024) Adaptive long-read sequencing reveals GGC repeat expansion in ZFHX3 associated with spinocerebellar ataxia type 4. Mov Disord 39:486\u2013497. https:\/\/doi.org\/10.1002\/MDS.29704","journal-title":"Mov Disord"},{"key":"13478_CR124","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PGEN.1010958","author":"L Kerr","year":"2023","unstructured":"Kerr L, Kafetzopoulos I, Grima R, Sproul D (2023) Genome-wide single-molecule analysis of long-read DNA methylation reveals heterogeneous patterns at heterochromatin that reflect nucleosome organisation. PLoS Genet. https:\/\/doi.org\/10.1371\/JOURNAL.PGEN.1010958","journal-title":"PLoS Genet"},{"key":"13478_CR125","doi-asserted-by":"publisher","DOI":"10.3390\/BRAINSCI13060955","author":"YA Fitrah","year":"2023","unstructured":"Fitrah YA, Higuchi Y, Hara N et al (2023) Heterogenous genetic, clinical, and imaging features in patients with neuronal intranuclear inclusion disease carrying NOTCH2NLC repeat expansion. Brain Sci. https:\/\/doi.org\/10.3390\/BRAINSCI13060955","journal-title":"Brain Sci"},{"key":"13478_CR126","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2023.1110307","author":"J Zou","year":"2023","unstructured":"Zou J, Wang F, Gong Z et al (2023) A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing. Front Genet. https:\/\/doi.org\/10.3389\/FGENE.2023.1110307","journal-title":"Front Genet"},{"key":"13478_CR127","doi-asserted-by":"publisher","DOI":"10.1186\/S12967-024-04917-1","author":"C Kim","year":"2024","unstructured":"Kim C, Pongpanich M, Porntaveetus T (2024) Unraveling metagenomics through long-read sequencing: a comprehensive review. J Transl Med. https:\/\/doi.org\/10.1186\/S12967-024-04917-1","journal-title":"J Transl Med"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13478-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-025-13478-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13478-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T15:30:24Z","timestamp":1765812624000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-025-13478-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,8]]},"references-count":127,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["13478"],"URL":"https:\/\/doi.org\/10.1007\/s00415-025-13478-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,8]]},"assertion":[{"value":"3 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 October 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 October 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 November 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflict of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}],"article-number":"753"}}