The genetic architecture of pentanucleotide repeat variation and disease association

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0372-4 · Cited by 575 · see citing works

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Lee, J., Correia, K., Loupe, J. M., Kim, K., Barker, D., Hong, E. P., Chao, M. J., Long, J. D., Lucente, D. E., Vonsattel, J. P., et al. (2019) · Cell · doi:10.1016/j.cell.2019.06.036 · Cited by 531 · see citing works

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Matsuura, T., Yamagata, T., Burgess, D., Rasmussen, A., Grewal, R., Watase, K., Khajavi, M., McCall, A., Davis, C., Zu, L., et al. (2000) · Nature Genetics · doi:10.1038/79911 · Cited by 522 · see citing works

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429 · see citing works

Heterogeneous mutation processes in human microsatellite DNA sequences

Ellegren, H. (2000) · Nature Genetics · doi:10.1038/74249 · Cited by 377 · see citing works

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Ishiura, H., Doi, K., Mitsui, J., Yoshimura, J., Matsukawa, M. K., Fujiyama, A., Toyoshima, Y., Kakita, A., Takahashi, H., Suzuki, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0067-2 · Cited by 322 · see citing works

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.019 · Cited by 302 · see citing works

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

Yrigollen, C. M., Durbin-Johnson, B., Gane, L., Nelson, D. L., Hagerman, R., Hagerman, P. J., & Tassone, F. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.34 · Cited by 179 · see citing works

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Florian, R. T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, É., van Rootselaar, A., Buratti, J., Kühnel, T., Schröder, C., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12763-9 · Cited by 166 · see citing works

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R. T., Schneider, A., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12671-y · Cited by 159 · see citing works

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez‐Ugalde, A., Marcelino, H., Oliveira, C. L., Loureiro, J. L., Dhingra, A., Brandão, E., Cruz, V. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.007 · Cited by 148 · see citing works

Human-specific tandem repeat expansion and differential gene expression during primate evolution

Sulovari, A., Li, R., Audano, P. A., Porubskỳ, D., Vollger, M. R., Logsdon, G. A., Warren, W. C., Pollen, A. A., Chaisson, M., Eichler, E. E., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1912175116 · Cited by 131 · see citing works

Characterization and visualization of tandem repeats at genome scale

Dolzhenko, E., English, A. C., Dashnow, H., Brandine, G. D. S., Mokveld, T., Rowell, W. J., Karniski, C., Kronenberg, Z. N., Danzi, M. C., Cheung, W., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-023-02057-3 · Cited by 130 · see citing works

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

Cen, Z., Jiang, Z., Chen, Y., Zheng, X., Xie, F., Yang, X., Lu, X., Ouyang, Z., Wu, H., Chen, S., et al. (2018) · Brain · doi:10.1093/brain/awy160 · Cited by 97 · see citing works

Increased frequency of repeat expansion mutations across different populations

Ibáñez, K., Jadhav, B., Zanovello, M., Gagliardi, D., Clarkson, C., Facchini, S., Garg, P., Martin-Trujillo, A., Gies, S. J., Deforie, V. G., et al. (2024) · Nature Medicine · doi:10.1038/s41591-024-03190-5 · Cited by 94 · see citing works

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

Rajan‐Babu, I., Dolzhenko, E., Eberle, M. A., & Friedman, J. M. (2024) · Nature Reviews Genetics · doi:10.1038/s41576-024-00696-z · Cited by 93 · see citing works

Read-Based Phasing and Analysis of Phased Variants with WhatsHap

Martin, M., Ebert, P., & Marschall, T. (2022) · Methods in molecular biology · doi:10.1007/978-1-0716-2819-5_8 · Cited by 90 · see citing works

The Role of Interruptions in polyQ in the Pathology of SCA1

Menon, R., Nethisinghe, S., Faggiano, S., Vannocci, T., Rezaei, H., Pemble, S., Sweeney, M., Wood, N., Davis, M., Pastore, A., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003648 · Cited by 83 · see citing works

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

Nolin, S. L., Glicksman, A., Tortora, N. D., Allen, E. G., Macpherson, J., Milà, M., Vianna‐Morgante, A. M., Sherman, S. L., Dobkin, C., Latham, G. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61165 · Cited by 73 · see citing works

Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1

Kraus-Perrotta, C., & Lagalwar, S. (2016) · Cerebellum & Ataxias · doi:10.1186/s40673-016-0058-y · Cited by 59 · see citing works

Evolution of a Human-Specific Tandem Repeat Associated with ALS

Course, M. M., Gudsnuk, K. M., Smukowski, S. N., Winston, K., Desai, N., Ross, J. P., Sulovari, A., Bourassa, C. V., Spiegelman, D., Couthouis, J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.07.004 · Cited by 56 · see citing works

Advances in repeat expansion diseases and a new concept of repeat motif–phenotype correlation

Ishiura, H., & Tsuji, S. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.029 · Cited by 54 · see citing works

Complete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment

Mizuguchi, T., Toyota, T., Miyatake, S., Mitsuhashi, S., Doi, H., Kudo, Y., Kishida, H., Hayashi, N., Tsuburaya, R. S., Kinoshita, M., et al. (2021) · Brain · doi:10.1093/brain/awab021 · Cited by 47 · see citing works

The mutational dynamics of short tandem repeats in large, multigenerational families

Steely, C. J., Watkins, W. S., Baird, L. M., & Jorde, L. B. (2022) · Genome biology · doi:10.1186/s13059-022-02818-4 · Cited by 45 · see citing works

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease

Kay, C., Collins, J. A., Caron, N. S., Agostinho, L. D. A., Black, H. F., Casal, L. L., Sumathipala, D., Dissanayake, V. H. W., Cornejo‐Olivas, M., Baine, F., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.011 · Cited by 42 · see citing works

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Pellerin, D., Gobbo, G. F. D., Couse, M., Dolzhenko, E., Nageshwaran, S., Cheung, W., Xu, I. R. L., Dicaire, M., Spurdens, G., Matos-Rodrigues, G. E., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01808-5 · Cited by 41 · see citing works

CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

Perez, B. A., Shorrock, H. K., Báñez-Coronel, M., Zu, T., Romano, L. E. L., Laboissonniere, L. A., Reid, T. S., Ikeda, Y., Reddy, K., Gomez, C. M., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202114095 · Cited by 37 · see citing works

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

Yeetong, P., Dembélé, M. E., Pongpanich, M., Cissé, L., Srichomthong, C., Maīga, A. B., Dembélé, K., Assawapitaksakul, A., Bamba, S., Yalcouyé, A., et al. (2023) · Movement Disorders · doi:10.1002/mds.29654 · Cited by 28 · see citing works

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

Corbett, M. A., Depienne, C., Veneziano, L., Klein, K. M., Brancati, F., Guerrini, R., Zara, F., Tsuji, S., & Gécz, J. (2023) · Epilepsia · doi:10.1111/epi.17610 · Cited by 28 · see citing works

Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

Loureiro, J. R., Oliveira, C. L., Mota, C., Castro, A. F., Costa, C., Loureiro, J. L., Coutinho, P., Martins, S., Sequeiros, J., & Silveira, I. (2018) · Human Mutation · doi:10.1002/humu.23704 · Cited by 27 · see citing works

Haplotype Study of Intermediate-Length Alleles at the Fragile X (FMR1) Gene: ATL1, FMRB, and Microsatellite Haplotypes Differ from Those Found in Common-Size FMR1 Alleles

Curlis, Y., Zhang, C., Holden, J. J. A., Kirkby, K. (., Loesch, D. Z., & Mitchell, R. J. (2005) · Human Biology · doi:10.1353/hub.2005.0029 · Cited by 20 · see citing works

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

Maroilley, T., Tsai, M., Mascarenhas, R., Diao, C. T. M., Khanbabaei, M., Kaya, S., Depienne, C., Tarailo‐Graovac, M., & Klein, K. M. (2023) · Epilepsia Open · doi:10.1002/epi4.12702 · Cited by 19 · see citing works

RFC1: Motifs and phenotypes

Delforge, V., Tard, C., Davion, J., Dujardin, K., Wissocq, A., Dhaenens, C., Mutez, E., & Huin, V. (2024) · Revue Neurologique · doi:10.1016/j.neurol.2024.03.006 · Cited by 18 · see citing works

Alu-Mediated Acquisition of Unstable ATTCT Pentanucleotide Repeats in the Human ATXN10 Gene

Kurosaki, T., Matsuura, T., Ohno, K., & Ueda, S. (2009) · Molecular Biology and Evolution · doi:10.1093/molbev/msp172 · Cited by 13 · see citing works

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

Costa, I. P. D., Almeida, B. C., Sequeiros, J., Amorim, A., & Martins, S. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00038 · Cited by 13 · see citing works

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10

Hasan, A., Furtado, G. V., Miglorini, E. C., Mergener, R., Massuyama, B. K., Barsottini, O. G. P., Pedroso, J. L., Teive, H. G., Pereira, M. L. S., Ashizawa, T., et al. (2025) · Journal of Neurology · doi:10.1007/s00415-025-13003-5 · Cited by 10 · see citing works

SpanishHTTgene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

de Sabando, A. R., Lafuente, E. U., Galbete, A., Ciosi, M., Amigot, F. G., García-Solaesa, V., Spanish HD Collaborative group, Martínez, V. Á., Martínez‐Descals, A., Milà, M., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac224 · Cited by 10 · see citing works

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy

Ozaki, K., Yatsuka, Y., Oyazato, Y., Nishiyama, A., Nitta, K. R., Kishita, Y., Fushimi, T., Shimura, M., Noma, S., Sugiyama, Y., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00429-5 · Cited by 9 · see citing works

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases

Weisburd, B., Dolzhenko, E., Bennett, M. F., Danzi, M. C., Xu, I. R. L., Tanudisastro, H. A., Gu, B., English, A. C., Hiatt, L., Mokveld, T., et al. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.03.020 · Cited by 6 · see citing works

The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK

Rautila, O. S., Kaivola, K., Rautila, H., Hokkanen, L., Launes, J., Strandberg, T. E., Laaksovirta, H., Palmio, J., & Tienari, P. J. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.019 · Cited by 5 · see citing works

The Structure of Simple Satellite Variation in the Human Genome and Its Correlation With Centromere Ancestry

Said, I., Barbash, D. A., & Clark, A. G. (2024) · Genome Biology and Evolution · doi:10.1093/gbe/evae153 · Cited by 5 · see citing works

Diverse short tandem repeat sequences influence gene regulation in human populations

Mitina, A., Engchuan, W., Trost, B., Pellecchia, G., Scherer, S. W., & Yuen, R. K. C. (2025) · Genome biology · doi:10.1186/s13059-025-03754-9 · Cited by 5 · see citing works

The Genetic and Evolutionary Landscape of Pentanucleotide Tandem Repeats in Human GenomesPreprint

Xu, I. R. L., Pellerin, D., de Vondel, L. V., Danzi, M. C., & Zuchner, S. L. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.27.656002 · Cited by 3 · see citing works

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insightsPreprint

Rajan‐Babu, I., Chiu, R., Weisburd, B., Caglayan, I., Birol, İ., & Friedman, J. M. (2025) · medRxiv · doi:10.1101/2025.10.11.25337795 · Cited by 1 · see citing works

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingPreprint

Gibson, S. B., Damaraju, N., Gustafson, J. (., Balton, E. V., Chanprasert, S., Glass, I. A., Horike-Pyne, M. J., Kumar, R. D., Leppig, K. A., Lundberg, C., et al. (2026) · medRxiv · doi:10.64898/2026.04.30.26352103

Additional file 2 of Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

Mitsuhashi, S., Frith, M. C., & Matsumoto, N. (2021) · Figshare · doi:10.6084/m9.figshare.13543751

Characterization and visualization of tandem repeats at genome scale

Dolzhenko, E., English, A. C., Dashnow, H., Brandine, G. D. S., Mokveld, T., Rowell, W. J., Karniski, C., Kronenberg, Z. N., Danzi, M. C., Cheung, W., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-023-02057-3 · Cited by 130 · see citing works