{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:10:41Z","timestamp":1791317441590,"version":"4.3.1"},"reference-count":163,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Boettcher Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue. As short tandem repeats are unstable, they can expand, contract, and acquire and lose epigenetic marks in somatic tissue. This means within an individual, the genotype and epigenetic state at these loci can vary considerably from cell to cell. This somatic mosaicism may play a key role in clinical pathogenesis, and yet, our understanding of mosaicism in driving clinical phenotypes in short tandem repeat disorders is only just emerging. This review focuses on these three relatively well-studied examples where, given the advent of new technologies and bioinformatic approaches, a critical role for mosaicism is coming into focus both with respect to cellular physiology and clinical phenotypes.<\/jats:p>","DOI":"10.3390\/genes16020216","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T04:03:35Z","timestamp":1739419415000},"page":"216","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective"],"prefix":"10.3390","volume":"16","author":[{"given":"Rose M.","family":"Doss","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2222-0727","authenticated-orcid":false,"given":"Susana","family":"Lopez-Ignacio","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1798-0469","authenticated-orcid":false,"given":"Anna","family":"Dischler","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1321-0325","authenticated-orcid":false,"given":"Laurel","family":"Hiatt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"Dashnow","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin W.","family":"Breuss","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline M.","family":"Dias","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"},{"name":"Section of Developmental Pediatrics, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/s41576-024-00692-3","article-title":"Sequencing and characterizing short tandem repeats in the human genome","volume":"25","author":"Tanudisastro","year":"2024","journal-title":"Nat. Rev. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/s41580-021-00382-6","article-title":"Molecular mechanisms underlying nucleotide repeat expansion disorders","volume":"22","author":"Malik","year":"2021","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1101\/gr.269530.120","article-title":"Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences","volume":"32","author":"Sato","year":"2022","journal-title":"Genome Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1038\/s41467-023-37690-8","article-title":"Characterization of genome-wide STR variation in 6487 human genomes","volume":"14","author":"Shi","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"fcae016","DOI":"10.1093\/braincomms\/fcae016","article-title":"Modification of Huntington\u2019s disease by short tandem repeats","volume":"6","author":"Hong","year":"2024","journal-title":"Brain Commun."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/s41586-020-2579-z","article-title":"Genome-wide detection of tandem DNA repeats that are expanded in autism","volume":"586","author":"Trost","year":"2020","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1093\/brain\/awac301","article-title":"Genome-wide contribution of common short-tandem repeats to Parkinson\u2019s disease genetic risk","volume":"146","author":"Bustos","year":"2023","journal-title":"Brain"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1038\/s41380-022-01575-x","article-title":"Genome-wide tandem repeat expansions contribute to schizophrenia risk","volume":"27","author":"Mojarad","year":"2022","journal-title":"Mol. Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1038\/s41380-022-01857-4","article-title":"Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia","volume":"28","author":"Wen","year":"2023","journal-title":"Mol. Psychiatry"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3659","DOI":"10.1016\/j.cell.2023.07.002","article-title":"Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer","volume":"186","author":"Mukamel","year":"2023","journal-title":"Cell"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-022-05515-1","article-title":"Recurrent repeat expansions in human cancer genomes","volume":"613","author":"Erwin","year":"2023","journal-title":"Nature"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1038\/s41588-019-0521-9","article-title":"The impact of short tandem repeat variation on gene expression","volume":"51","author":"Fotsing","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1038\/s41467-021-22206-z","article-title":"Variable number tandem repeats mediate the expression of proximal genes","volume":"12","author":"Bakhtiari","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.cell.2018.08.005","article-title":"Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries","volume":"175","author":"Sun","year":"2018","journal-title":"Cell"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1038\/s41467-020-16482-4","article-title":"Properties of structural variants and short tandem repeats associated with gene expression and complex traits","volume":"11","author":"Jakubosky","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1126\/science.abg8289","article-title":"Protein-coding repeat polymorphisms strongly shape diverse human phenotypes","volume":"373","author":"Mukamel","year":"2021","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/74249","article-title":"Heterogeneous mutation processes in human microsatellite DNA sequences","volume":"24","author":"Ellegren","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Porubsky, D., Dashnow, H., Sasani, T.A., Logsdon, G.A., Hallast, P., Noyes, M.D., Kronenberg, Z.N., Mokveld, T., Koundinya, N., and Nolan, C. (2024). A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv.","DOI":"10.1101\/2024.08.05.606142"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/npp.2012.112","article-title":"DNA Methylation and Its Basic Function","volume":"38","author":"Moore","year":"2013","journal-title":"Neuropsychopharmacology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/S1672-0229(07)60009-6","article-title":"A Brief Review of Short Tandem Repeat Mutation","volume":"5","author":"Fan","year":"2007","journal-title":"Genom. Proteom. Bioinform."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Weisburd, B., Dolzhenko, E., Bennett, M.F., Danzi, M.C., English, A., Hiatt, L., Tanudisastro, H., Kurtas, N.E., Jam, H.Z., and Brand, H. (2024). Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases. bioRxiv.","DOI":"10.1101\/2024.10.04.615514"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2665","DOI":"10.1021\/acschemneuro.4c00184","article-title":"Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration","volume":"15","author":"Tenchov","year":"2024","journal-title":"ACS Chem. Neurosci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/j.ajhg.2021.03.011","article-title":"30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?","volume":"108","author":"Depienne","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.ajhg.2024.03.015","article-title":"CAG repeat mosaicism is gene specific in spinocerebellar ataxias","volume":"111","author":"Kacher","year":"2024","journal-title":"Am. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/nrg.2017.115","article-title":"Tandem repeats mediating genetic plasticity in health and disease","volume":"19","author":"Hannan","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1002\/mds.28086","article-title":"Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death","volume":"35","author":"Hall","year":"2020","journal-title":"Mov. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Cabal-Herrera, A.M., Tassanakijpanich, N., Salcedo-Arellano, M.J., and Hagerman, R.J. (2020). Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124391"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1038\/s41436-021-01177-y","article-title":"Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size","volume":"23","author":"Allen","year":"2021","journal-title":"Genet. Med."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Tassone, F., Sellier, C., Charlet-Berguerand, N., and Todd, P.K. (2016). The Molecular Biology of Premutation Expanded Alleles. FXTAS, FXPOI, and Other Premutation Disorders, Springer.","DOI":"10.1007\/978-3-319-33898-9"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-013-1138-1","article-title":"Fragile X-associated tremor\/ataxia syndrome (FXTAS): Pathology and mechanisms","volume":"126","author":"Hagerman","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/367713","article-title":"Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles","volume":"72","author":"Nolin","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Chen, J., Zhao, Y., Zhou, X., Xue, J., Xiao, Q., Pan, H., Zhou, X., Xiang, Y., Li, J., and Zhu, L. (2023). Evaluation of the role of FMR1 CGG repeat allele in Parkinson\u2019s disease from the Chinese population. Front. Aging Neurosci., 15.","DOI":"10.3389\/fnagi.2023.1234027"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"R273","DOI":"10.1016\/j.cub.2021.01.043","article-title":"Fragile X syndrome","volume":"31","author":"Hagerman","year":"2021","journal-title":"Curr. Biol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","article-title":"Absence of Expression of the FMR-1 Gene in Fragile X Syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1126\/science.252.5009.1179","article-title":"Fragile X Genotype Characterized by an Unstable Region of DNA","volume":"252","author":"Yu","year":"1991","journal-title":"Science"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"S194","DOI":"10.1542\/peds.2016-1159F","article-title":"Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment","volume":"139","author":"Kaufmann","year":"2017","journal-title":"Pediatrics"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1391807","DOI":"10.1155\/2022\/1391807","article-title":"X-Chromosome Inactivation and Related Diseases","volume":"2022","author":"Sun","year":"2022","journal-title":"Genet. Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1212\/NXG.0000000000000045","article-title":"X-inactivation in the clinical phenotype of fragile X premutation carrier sisters","volume":"2","author":"Hall","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/ene.13413","article-title":"Huntington\u2019s disease: A clinical review","volume":"25","author":"McColgan","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/B978-0-444-63233-3.00017-8","article-title":"Huntington disease","volume":"147","author":"Ghosh","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/brain\/awq280","article-title":"Smaller intracranial volume in prodromal Huntington\u2019s disease: Evidence for abnormal neurodevelopment","volume":"134","author":"Nopoulos","year":"2011","journal-title":"Brain"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.biopsych.2005.06.003","article-title":"Brain structure in preclinical Huntington\u2019s disease","volume":"59","author":"Paulsen","year":"2006","journal-title":"Biol. Psychiatry"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"10045","DOI":"10.1073\/pnas.0610628104","article-title":"Huntingtin facilitates dynein\/dynactin-mediated vesicle transport","volume":"104","author":"Caviston","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1046\/j.1460-9568.2003.02844.x","article-title":"Co-localization of brain-derived neurotrophic factor (BDNF) and wild-type huntingtin in normal and quinolinic acid-lesioned rat brain","volume":"18","author":"Fusco","year":"2003","journal-title":"Eur. J. Neurosci."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3705","DOI":"10.1523\/JNEUROSCI.20-10-03705.2000","article-title":"Wild-Type Huntingtin Protects from Apoptosis Upstream of Caspase-3","volume":"20","author":"Rigamonti","year":"2000","journal-title":"J. Neurosci."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.expneurol.2011.12.013","article-title":"Protein aggregates in Huntington\u2019s disease","volume":"238","author":"Arrasate","year":"2012","journal-title":"Exp. Neurol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2522","DOI":"10.1523\/JNEUROSCI.19-07-02522.1999","article-title":"Nuclear and Neuropil Aggregates in Huntington\u2019s Disease: Relationship to Neuropathology","volume":"19","author":"Gutekunst","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.celrep.2019.12.069","article-title":"Striatal Projection Neurons Require Huntingtin for Synaptic Connectivity and Survival","volume":"30","author":"Burrus","year":"2020","journal-title":"Cell Rep."},{"key":"ref_50","first-page":"16","article-title":"Phenotypic Characterization of Individuals with 30\u201340 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36-39 Repeats","volume":"59","author":"Rubinsztein","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S0140-6736(07)60111-1","article-title":"Huntington\u2019s disease","volume":"369","author":"Walker","year":"2007","journal-title":"Lancet"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/ajmg.b.30992","article-title":"and PREDICT-HD Investigators of the Huntington Study Group. CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches","volume":"153B","author":"Langbehn","year":"2010","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/cge.13857","article-title":"Age of onset and behavioral manifestations in Huntington\u2019s disease: An Enroll-HD cohort analysis","volume":"99","author":"Ranganathan","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"e63894","DOI":"10.1002\/ajmg.a.63894","article-title":"Expanding the Phenotype of Extremely Early Onset Juvenile Huntington\u2019s Disease: A Case Report and Review of Previously Published Cases","volume":"197","author":"Powis","year":"2024","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The myotonic dystrophies: Molecular, clinical, and therapeutic challenges","volume":"11","author":"Udd","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1097\/GIM.0b013e3181abce0f","article-title":"Technical standards and guidelines for myotonic dystrophy type 1 testing","volume":"11","author":"Prior","year":"2009","journal-title":"Genet. Med."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Lanni, S., and Pearson, C.E. (2019). Molecular genetics of congenital myotonic dystrophy. Neurobiol. Dis., 132.","DOI":"10.1016\/j.nbd.2019.104533"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1038\/s41431-021-00999-3","article-title":"DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients","volume":"30","author":"Cohen","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Rimoldi, M., Lucchiari, S., Pagliarani, S., Meola, G., Comi, G.P., and Abati, E. (2024). Myotonic dystrophies: An update on clinical features, molecular mechanisms, management, and gene therapy. Neurol. Sci., 1\u201318.","DOI":"10.1007\/s10072-024-07826-9"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1016\/j.cellsig.2008.05.005","article-title":"Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1","volume":"20","author":"Kaliman","year":"2008","journal-title":"Cell. Signal."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Lopez-Martinez, A., Soblechero-Martin, P., de-la-Puente-Ovejero, L., Nogales-Gadea, G., and Arechavala-Gomeza, V. (2020). An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I. Genes, 11.","DOI":"10.3390\/genes11091109"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"3841","DOI":"10.1038\/s41467-022-31594-9","article-title":"Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes","volume":"13","author":"Dinca","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1038\/ng.2398","article-title":"A direct characterization of human mutation based on microsatellites","volume":"44","author":"Sun","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1073\/pnas.94.3.1041","article-title":"Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci","volume":"94","author":"Chakraborty","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1093\/oxfordjournals.molbev.a025678","article-title":"Allelic Diversity in Alligator Microsatellite Loci Is Negatively Correlated with GC Content of Flanking Sequences and Evolutionary Conservation of PCR Amplifiability","volume":"13","author":"Glenn","year":"1996","journal-title":"Mol. Biol. Evol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/362745a0","article-title":"Male-driven evolution of DNA sequences","volume":"362","author":"Shimmin","year":"1993","journal-title":"Nature"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1086\/302905","article-title":"Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father\/son pairs","volume":"66","author":"Kayser","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1086\/301869","article-title":"Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat","volume":"62","author":"Brinkmann","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"5204","DOI":"10.1074\/jbc.273.9.5204","article-title":"Analysis of strand slippage in DNA polymerase expansions of CAG\/CTG triplet repeats associated with neurodegenerative disease","volume":"273","author":"Petruska","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"23468","DOI":"10.1074\/jbc.274.33.23468","article-title":"Genetic instabilities in (CTG.CAG) repeats occur by recombination","volume":"274","author":"Jakupciak","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nsmb1042","article-title":"Transcription promotes contraction of CAG repeat tracts in human cells","volume":"13","author":"Lin","year":"2006","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1093\/hmg\/ddq501","article-title":"Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats","volume":"20","author":"Nakamori","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Steely, C.J., Watkins, W.S., Baird, L., and Jorde, L.B. (2022). The mutational dynamics of short tandem repeats in large, multigenerational families. Genome Biol., 23.","DOI":"10.1186\/s13059-022-02818-4"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"3855","DOI":"10.1038\/s41467-023-39547-6","article-title":"Sequence variants affecting the genome-wide rate of germline microsatellite mutations","volume":"14","author":"Kristmundsdottir","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/s41586-020-03078-7","article-title":"Patterns of de novo tandem repeat mutations and their role in autism","volume":"589","author":"Mitra","year":"2021","journal-title":"Nature"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1074\/jbc.REV119.007678","article-title":"On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability","volume":"295","author":"Khristich","year":"2020","journal-title":"J. Biol. Chem."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng0994-88","article-title":"Length of uninterrupted CGG repeats determines instability in the FMR1 gene","volume":"8","author":"Eichler","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1038\/s41436-020-0917-z","article-title":"Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range","volume":"22","author":"Wright","year":"2020","journal-title":"Genet. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1038\/s41431-018-0156-9","article-title":"De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1","volume":"26","author":"Cumming","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e504","DOI":"10.1212\/NXG.0000000000000504","article-title":"Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1","volume":"6","author":"Miller","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Pesovic, J., Peric, S., Brkusanin, M., Brajuskovic, G., Rakocevic-Stojanovic, V., and Savic-Pavicevic, D. (2018). Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00601"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1038\/ejhg.2012.231","article-title":"Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2","volume":"21","author":"Ek","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"e14095","DOI":"10.15252\/emmm.202114095","article-title":"CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity","volume":"13","author":"Perez","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/9738","article-title":"Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells","volume":"22","author":"Coffee","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1086\/342931","article-title":"Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome","volume":"71","author":"Coffee","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1093\/hmg\/ddi024","article-title":"Molecular dissection of the events leading to inactivation of the FMR1 gene","volume":"14","author":"Pietrobono","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"5840","DOI":"10.1016\/j.cell.2023.11.019","article-title":"Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome","volume":"186","author":"Malachowski","year":"2023","journal-title":"Cell"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.stem.2007.09.001","article-title":"Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos","volume":"1","author":"Eiges","year":"2007","journal-title":"Cell Stem Cell"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1016\/j.cell.2023.04.035","article-title":"Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation","volume":"186","author":"Lee","year":"2023","journal-title":"Cell"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1093\/hmg\/ddab243","article-title":"Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent","volume":"31","author":"Morales","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Koehorst, E., Odria, R., Capo, J., Nunez-Manchon, J., Arbex, A., Almendrote, M., Linares-Pardo, I., Natera-de Benito, D., Saez, V., and Nascimento, A. (2022). An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines, 10.","DOI":"10.3390\/biomedicines10061372"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1073\/pnas.51.2.315","article-title":"Enzymatic Synthesis of Deoxyribonucleic Acid, XVI. Oligonucleotides As Templates and the Mechanism of Their Replication","volume":"51","author":"Kornberg","year":"1964","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1093\/hmg\/7.8.1285","article-title":"Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities","volume":"7","author":"Lia","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ygeno.2004.04.003","article-title":"GAA repeat instability in Friedreich ataxia YAC transgenic mice","volume":"84","author":"Pinto","year":"2004","journal-title":"Genomics"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1093\/hmg\/ddg056","article-title":"Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum","volume":"12","author":"Wheeler","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/hmg\/9.3.439","article-title":"Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability","volume":"9","author":"Fortune","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.dnarep.2016.01.001","article-title":"A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients","volume":"40","author":"Morales","year":"2016","journal-title":"DNA Repair"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nbd.2008.09.014","article-title":"Intergenerational and striatal CAG repeat instability in Huntington\u2019s disease knock-in mice involve different DNA repair genes","volume":"33","author":"Dragileva","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"5350","DOI":"10.1038\/s41467-022-33093-3","article-title":"Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease","volume":"13","author":"Uddin","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.yjmcc.2021.07.004","article-title":"Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease","volume":"161","author":"Marnell","year":"2021","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1126\/science.adq1456","article-title":"Somatic mosaicism in schizophrenia brains revealsprenatal mutational processes","volume":"386","author":"Maury","year":"2024","journal-title":"Science"},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Risques, R.A., and Kennedy, S.R. (2018). Aging and the rise of somatic cancer-associated mutations in normal tissues. PLoS Genet., 14.","DOI":"10.1371\/journal.pgen.1007108"},{"key":"ref_103","doi-asserted-by":"crossref","unstructured":"Potter, H., Chial, H.J., Caneus, J., Elos, M., Elder, N., Borysov, S., and Granic, A. (2019). Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.01092"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/s41593-020-00766-5","article-title":"Large mosaic copy number variations confer autism risk","volume":"24","author":"Sherman","year":"2021","journal-title":"Nat. Neurosci."},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Lee, W.P., Tucci, A.A., Conery, M., Leung, Y.Y., Kuzma, A.B., Valladares, O., Chou, Y.F., Lu, W., Wang, L.S., and Schellenberg, G.D. (2021). Copy Number Variation Identification on 3,800 Alzheimer\u2019s Disease Whole Genome Sequencing Data from the Alzheimer\u2019s Disease Sequencing Project. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.752390"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"5637","DOI":"10.1093\/hmg\/ddv277","article-title":"Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson\u2019s disease","volume":"24","author":"Huttenlocher","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s00439-016-1749-4","article-title":"Copy number variability in Parkinson\u2019s disease: Assembling the puzzle through a systems biology approach","volume":"136","author":"Morello","year":"2017","journal-title":"Hum. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/nature19768","article-title":"Tissue-specific mutation accumulation in human adult stem cells during life","volume":"538","author":"Blokzijl","year":"2016","journal-title":"Nature"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1080\/14737159.2017.1377612","article-title":"Size and methylation mosaicism in males with Fragile X syndrome","volume":"17","author":"Jiraanont","year":"2017","journal-title":"Expert. Rev. Mol. Diagn."},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Pretto, D., Yrigollen, C.M., Tang, H.-T., Williamson, J., Espinal, G., Iwahashi, C.K., Durbin-Johnson, B., Hagerman, R.J., Hagerman, P.J., and Tassone, F. (2014). Clinical and molecular implications of mosaicism in FMR1 full mutations. Front. Genet., 5.","DOI":"10.3389\/fgene.2014.00318"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s004390050230","article-title":"Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation","volume":"98","author":"Schmucker","year":"1996","journal-title":"Hum. Genet."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1097\/00004583-200203000-00002","article-title":"Genetic and Environmental Influences on the Cognitive Outcomes of Children With Fragile X Syndrome","volume":"41","author":"Glaser","year":"2002","journal-title":"J. Am. Acad. Child. Adolesc. Psychiatry"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/mrdd.20006","article-title":"Phenotypic variation and FMRP levels in fragile X","volume":"10","author":"Loesch","year":"2004","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"Protic, D., Polli, R., Hwang, Y.H., Mendoza, G., Hagerman, R., Durbin-Johnson, B., Hayward, B.E., Usdin, K., Murgia, A., and Tassone, F. (2023). Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells, 12.","DOI":"10.3390\/cells12131711"},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Tabolacci, E., Nobile, V., Pucci, C., and Chiurazzi, P. (2022). Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23105425"},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez, E., Gennaro, E., Pirozzi, F., Baldo, C., Forzano, F., Turolla, L., Faravelli, F., Gastaldo, D., Coviello, D., and Grasso, M. (2018). FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00442"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/ajmg.a.62594","article-title":"The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome","volume":"188","author":"Meng","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s11689-019-9288-7","article-title":"Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome","volume":"11","author":"Baker","year":"2019","journal-title":"J. Neurodev. Disord."},{"key":"ref_119","doi-asserted-by":"crossref","unstructured":"Mailick, M.R., Movaghar, A., Hong, J., Greenberg, J.S., Dawalt, L.S., Zhou, L., Jackson, J., Rathouz, P.J., Baker, M.W., and Brilliant, M. (2018). Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children with Fragile X Syndrome. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00173"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ng0494-409","article-title":"Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm","volume":"6","author":"Telenius","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"3039","DOI":"10.1093\/hmg\/ddp242","article-title":"Somatic expansion of the Huntington\u2019s disease CAG repeat in the brain is associated with an earlier age of disease onset","volume":"18","author":"Swami","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1073\/pnas.0800048105","article-title":"DNA instability in postmitotic neurons","volume":"105","author":"Gonitel","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nature05977","article-title":"Expandable DNA repeats and human disease","volume":"447","author":"Mirkin","year":"2007","journal-title":"Nature"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1002\/ana.24656","article-title":"DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases","volume":"79","author":"Bettencourt","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.2007.050930","article-title":"Factors associated with HD CAG repeat instability in Huntington disease","volume":"44","author":"Wheeler","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.ebiom.2019.09.020","article-title":"A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes","volume":"48","author":"Ciosi","year":"2019","journal-title":"EBioMedicine"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"e64674","DOI":"10.7554\/eLife.64674","article-title":"Propensity for somatic expansion increases over the course of life in Huntington disease","volume":"10","author":"Kacher","year":"2021","journal-title":"Elife"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.cell.2024.11.038","article-title":"Long somatic DNA-repeat expansion drives neurodegeneration in Huntington\u2019s disease","volume":"188","author":"Handsaker","year":"2025","journal-title":"Cell"},{"key":"ref_129","doi-asserted-by":"crossref","unstructured":"Kaplan, S., Itzkovitz, S., and Shapiro, E. (2007). A universal mechanism ties genotype to phenotype in trinucleotide diseases. PLoS Comput. Biol., 3.","DOI":"10.1371\/journal.pcbi.0030235"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1093\/brain\/awae063","article-title":"A CAG repeat threshold for therapeutics targeting somatic instability in Huntington\u2019s disease","volume":"147","author":"Aldous","year":"2024","journal-title":"Brain"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/j.neuron.2023.12.009","article-title":"Selective vulnerability of layer 5a corticostriatal neurons in Huntington\u2019s disease","volume":"112","author":"Pressl","year":"2024","journal-title":"Neuron"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/sj.ejhg.5200478","article-title":"Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1","volume":"8","author":"Martorell","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/422762","article-title":"Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation Embryos","volume":"75","author":"Temmerman","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1093\/hmg\/ddaa123","article-title":"Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset","volume":"29","author":"Morales","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1093\/hmg\/2.9.1397","article-title":"Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy","volume":"2","author":"Anvret","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1212\/WNL.43.12.2674","article-title":"Somatic instability of CTG repeat in myotonic dystrophy","volume":"43","author":"Ashizawa","year":"1993","journal-title":"Neurology"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/ana.410350116","article-title":"Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes","volume":"35","author":"Thornton","year":"1994","journal-title":"Ann. Neurol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s40673-016-0058-y","article-title":"Expansion, mosaicism and interruption: Mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1","volume":"3","author":"Lagalwar","year":"2016","journal-title":"Cerebellum Ataxias"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1097\/GIM.0b013e3181d0d40e","article-title":"Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening","volume":"12","author":"Hantash","year":"2010","journal-title":"Genet. Med."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/s40478-021-01201-x","article-title":"An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics","volume":"9","author":"Chintalaphani","year":"2021","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_141","doi-asserted-by":"crossref","unstructured":"Dolzhenko, E., Bennett, M.F., Richmond, P.A., Trost, B., Chen, S., van Vugt, J., Nguyen, C., Narzisi, G., Gainullin, V.G., and Gross, A.M. (2020). ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data. Genome Biol., 21.","DOI":"10.1186\/s13059-020-02017-z"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/nmeth.4267","article-title":"Genome-wide profiling of heritable and de novo STR variations","volume":"14","author":"Willems","year":"2017","journal-title":"Nat. Methods"},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Dashnow, H., Pedersen, B.S., Hiatt, L., Brown, J., Beecroft, S.J., Ravenscroft, G., LaCroix, A.J., Lamont, P., Roxburgh, R.H., and Rodrigues, M.J. (2022). STRling: A k-mer counting approach that detects short tandem repeat expansions at known and novel loci. Genome Biol., 23.","DOI":"10.1186\/s13059-022-02826-4"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"e90","DOI":"10.1093\/nar\/gkz501","article-title":"Profiling the genome-wide landscape of tandem repeat expansions","volume":"47","author":"Mousavi","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1101\/gr.225672.117","article-title":"Detection of long repeat expansions from PCR-free whole-genome sequence data","volume":"27","author":"Dolzhenko","year":"2017","journal-title":"Genome Res."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1101\/gr.135780.111","article-title":"lobSTR: A short tandem repeat profiler for personal genomes","volume":"22","author":"Gymrek","year":"2012","journal-title":"Genome Res."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S1474-4422(21)00462-2","article-title":"Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: A retrospective diagnostic accuracy and prospective clinical validation study","volume":"21","author":"Ibanez","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_148","doi-asserted-by":"crossref","unstructured":"Sehgal, A., Jam, H.Z., Shen, A., and Gymrek, M. (2024). Genome-wide detection of somatic mosaicism at short tandem repeats. Bioinformatics, 40.","DOI":"10.1093\/bioinformatics\/btae485"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1038\/s41587-023-02057-3","article-title":"Characterization and visualization of tandem repeats at genome scale","volume":"42","author":"Dolzhenko","year":"2024","journal-title":"Nat. Biotechnol."},{"key":"ref_150","doi-asserted-by":"crossref","unstructured":"Ziaei Jam, H., Zook, J.M., Javadzadeh, S., Park, J., Sehgal, A., and Gymrek, M. (2024). LongTR: Genome-wide profiling of genetic variation at tandem repeats from long reads. Genome Biol., 25.","DOI":"10.1186\/s13059-024-03319-2"},{"key":"ref_151","doi-asserted-by":"crossref","unstructured":"Chiu, R., Rajan-Babu, I.S., Friedman, J.M., and Birol, I. (2021). Straglr: Discovering and genotyping tandem repeat expansions using whole genome long-read sequences. Genome Biol., 22.","DOI":"10.1186\/s13059-021-02447-3"},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Mokveld, T., Dolzhenko, E., Dashnow, H., Nicholas, T.J., Sasani, T., van der Sanden, B., Jadhav, B., Pedersen, B., Kronenberg, Z., and Tucci, A. (2024). TRGT-denovo: Accurate detection of de novo tandem repeat mutations. bioRxiv.","DOI":"10.1101\/2024.07.16.600745"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"eabm5386","DOI":"10.1126\/sciadv.abm5386","article-title":"Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing","volume":"8","author":"Stevanoski","year":"2022","journal-title":"Sci. Adv."},{"key":"ref_154","doi-asserted-by":"crossref","unstructured":"Tsai, Y.-C., Greenberg, D., Powell, J., H\u00f6ijer, I., Ameur, A., Strahl, M., Ellis, E., Jonasson, I., Mouro Pinto, R., and Wheeler, V.C. (2017). Amplification-free, CRISPR-Cas9 Targeted Enrichment and SMRT Sequencing of Repeat-Expansion Disease Causative Genomic Regions. BioRxiv.","DOI":"10.1101\/203919"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s41525-024-00394-z","article-title":"Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes","volume":"9","author":"Nakamura","year":"2024","journal-title":"NPJ Genom. Med."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/mds.29704","article-title":"Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4","volume":"39","author":"Chen","year":"2024","journal-title":"Mov. Disord."},{"key":"ref_157","doi-asserted-by":"crossref","unstructured":"Grosso, V., Marcolungo, L., Maestri, S., Alfano, M., Lavezzari, D., Iadarola, B., Salviati, A., Mariotti, B., Botta, A., and D\u2019Apice, M.R. (2021). Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.743230"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/humu.22177","article-title":"Somatic expansion in mouse and human carriers of fragile X premutation alleles","volume":"34","author":"Lokanga","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_159","doi-asserted-by":"crossref","unstructured":"Long, A., Napierala, J.S., Polak, U., Hauser, L., Koeppen, A.H., Lynch, D.R., and Napierala, M. (2017). Somatic instability of the expanded GAA repeats in Friedreich\u2019s ataxia. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0189990"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/gim.2013.61","article-title":"ACMG Standards and Guidelines for fragile X testing: A revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics","volume":"15","author":"Monaghan","year":"2013","journal-title":"Genet. Med."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1136\/jmg.2006.045120","article-title":"Reduced penetrance alleles for Huntington\u2019s disease: A multi-centre direct observational study","volume":"44","author":"Quarrell","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13229-016-0105-9","article-title":"CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons","volume":"7","author":"Zhou","year":"2016","journal-title":"Mol. Autism"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1042\/ETLS20230075","article-title":"Expanding horizons of tandem repeats in biology and medicine: Why \u2019genomic dark matter\u2019 matters","volume":"7","author":"Hannan","year":"2023","journal-title":"Emerg. Top. Life Sci."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/2\/216\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T16:32:32Z","timestamp":1760027552000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/2\/216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,13]]},"references-count":163,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2]]}},"alternative-id":["genes16020216"],"URL":"https:\/\/doi.org\/10.3390\/genes16020216","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,13]]}}}