30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Open accessAbstract
Tandem repeats represent one of the most abundant class of variations in human genomes, which are polymorphic by nature and become highly unstable in a length-dependent manner. The expansion of repeat length across generations is a well-established process that results in human disorders mainly affecting the central nervous system. At least 50 disorders associated with expansion loci have been described to date, with half recognized only in the last ten years, as prior methodological difficulties limited their identification. These limitations still apply to the current widely used molecular diagnostic methods (exome or gene panels) and thus result in missed diagnosis detrimental to affected individuals and their families, especially for disorders that are very rare and/or clinically not recognizable. Most of these disorders have been identified through family-driven approaches and many others likely remain to be identified. The recent development of long-read technologies provides a unique opportunity to systematically investigate the contribution of tandem repeats and repeat expansions to the genetic architecture of human disorders. In this review, we summarize the current and most recent knowledge about the genetics of repeat expansion disorders and the diversity of their pathophysiological mechanisms and outline the perspectives of developing personalized treatments in the future.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409 · see citing works
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801 · see citing works
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786 · see citing works
Self-citationCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-221 · Cited by 1,753 · see citing works
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
Mahadevan, M. S., Tsilfidis, C., Sabourin, L. A., Shutler, G., Amemiya, C. T., Jansen, G., Neville, C., Narang, M. A., Barceló, J. M., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,656 · see citing works
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632 · cited 1× · see citing works
“1993 SCA1 AD 6p22 ATXN1 CAG 6–38 R39–88 polyQ, RNA? L, ExScr Orr et al.(12)”
Zhuchenko, O., Bailey, J. M., Bonnen, P. E., Ashizawa, T., Stockton, D. W., Amos, C. I., Dobyns, W. B., Subramony, S. H., Zoghbi, H. Y., & Lee, C. C. (1997) · Nature Genetics · doi:10.1038/ng0197-62 · Cited by 1,581 · see citing works
Genome-wide association study identifies 30 loci associated with bipolar disorder
eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0397-8 · Cited by 1,519 · see citing works
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S. G., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80260-3 · Cited by 1,502 · see citing works
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499 · see citing works
Self-citationAtaxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Elden, A. C., Kim, H.-J., Hart, M. P., Chen‐Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R. A., Lu, M. M., et al. (2010) · Nature · doi:10.1038/nature09320 · Cited by 1,327 · see citing works
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248 · see citing works
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kreß, W., Naylor, S. L., Day, J., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,230 · see citing works
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Pulst, S.-M., Nechiporuk, A. V., Nechiporuk, T., Gispert, S., Chen, X., Lopes‐Cendes, Í., Pearlman, S., Starkman, S., Díaz, G. O., Lunkes, A., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-269 · Cited by 1,113 · see citing works
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-9 · Cited by 1,109 · see citing works
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Hagerman, R. J., Leehey, M. A., Heinrichs, W. L., Tassone, F., Wilson, R., Hills, J. D., Grigsby, J., Gage, B. F., & Hagerman, P. J. (2001) · Neurology · doi:10.1212/wnl.57.1.127 · Cited by 966 · see citing works
Repeat instability: mechanisms of dynamic mutations
Pearson, C. E., Edamura, K. N., & Cleary, J. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1689 · Cited by 924 · cited 2× · see citing works
“However, the observations of expansions and contractions in non-dividing cells have indicated that other mechanisms are at play, and there is increasing evidence from mouse models, and very recently from affected individuals, that somatic stability or instability of repeat expansions largely depends on DNA mismatch re…”
BackgroundNon-ATG–initiated translation directed by microsatellite expansions
Zu, T., Gibbens, B. B., Doty, N. S., Gomes-Pereira, M., Huguet-Lachon, A., Stone, M. D., Margolis, J., Peterson, M., Markowski, T. W., Ingram, M. A. C., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1013343108 · Cited by 904 · see citing works
Amiel, J., Laudier, B., Attié‐Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P. F., Simonneau, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1130 · Cited by 855 · see citing works
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Kim, J., Hu, C., Achkar, C. M. E., Black, L. E., Douville, J., Larson, A. A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1813279 · Cited by 835 · see citing works
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Brais, B., Bouchard, J.-P., Xie, Y., Rochefort, D. L., Chrétien, N., Tomé, F. M. S., Lafrentére, R. G., Rommens, J. M., Uyama, E., Nohira, O., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-164 · Cited by 804 · see citing works
Telomere-to-telomere assembly of a complete human X chromosome
Miga, K. H., Koren, S., Rhie, A., Vollger, M. R., Gershman, A., Bzikadze, A., Brooks, S., Howe, E., Porubsky, D., Logsdon, G. A., et al. (2020) · Nature · doi:10.1038/s41586-020-2547-7 · Cited by 765 · see citing works
A Muscleblind Knockout Model for Myotonic Dystrophy
Kanadia, R. N., Johnstone, K. A., Mankodi, A., Lungu, C., Thornton, C. A., Esson, D., Timmers, A. M., Hauswirth, W. W., & Swanson, M. S. (2003) · Science · doi:10.1126/science.1088583 · Cited by 743 · see citing works
Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-14 · Cited by 714 · see citing works
Repeat instability : mechanisms of dynamic mutations
Pearson, C. E. (2005) · Medical Entomology and Zoology · Cited by 711 · see citing works
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Koob, M. D., Moseley, M. L., Schut, L. J., Benzow, K. A., Bird, T. D., Day, J., & Ranum, L. P. W. (1999) · Nature Genetics · doi:10.1038/7710 · Cited by 638 · see citing works
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595 · see citing works
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
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
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
Knight, S. J. L., Flannery, A., Hirst, M. C., Campbell, L. J., Christodoulou, Z., Phelps, S., Pointon, J. J., Middleton-Price, H. R., Barnicoat, A. J., Pembrey, M. E., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90300-f · Cited by 519 · see citing works
Sone, J., Mitsuhashi, S., Fujita, A., Mizuguchi, T., Hamanaka, K., Mori, K., Koike, H., Hashiguchi, A., Takashima, H., Sugiyama, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0459-y · Cited by 498 · see citing works
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
Holmes, S. E., O’Hearn, E., McInnis, M. G., Gorelick-Feldman, D. A., Kleiderlein, J. J., Callahan, C., Kwak, N. G., Ingersoll, R., Sherr, M., Sumner, A. J., et al. (1999) · Nature Genetics · doi:10.1038/70493 · Cited by 488 · see citing works
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
Todd, P. K., Oh, S. Y., Krans, A., He, F., Sellier, C., Frazer, M. A., Renoux, A. J., Chen, K.-C., Scaglione, K. M., Basrur, V., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.026 · Cited by 471 · see citing works
Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation
Suzuki, I. K., Gacquer, D., Van Heurck, R., Kumar, D., Wojno, M., Bilheu, A., Herpoel, A., Lambert, N., Cheron, J., Polleux, F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.067 · Cited by 471 · see citing works
Timchenko, L., Miller, J. W., Timchenko, N. A., DeVore, D. R., Datar, K. V., Lin, L., Roberts, R., Caskey, C. T., & Swanson, M. S. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.22.4407 · Cited by 465 · see citing works
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446 · see citing works
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Strømme, P., Mangelsdorf, M., Shaw, M. A., Lower, K. M., Lewis, M. E. S., Bruyèrè, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., et al. (2002) · Nature Genetics · doi:10.1038/ng862 · Cited by 440 · see citing works
Ishiura, H., Shibata, S., Yoshimura, J., Suzuki, Y., Qü, W., Doi, K., Almansour, M. A., Kikuchi, J. K., Taira, M., Mitsui, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0458-z · Cited by 433 · see citing works
Long-Read Sequencing Emerging in Medical Genetics
Mantere, T., Kersten, S., & Hoischen, A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00426 · Cited by 430 · see citing works
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
Sone, J., Mori, K., Inagaki, T., Katsumata, R., Takagi, S., Yokoi, S., Araki, K., Kato, T., Nakamura, T., Koike, H., et al. (2016) · Brain · doi:10.1093/brain/aww249 · Cited by 416 · see citing works
Koide, R. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.11.2047 · Cited by 397 · see citing works
Detection of long repeat expansions from PCR-free whole-genome sequence data
Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research · doi:10.1101/gr.225672.117 · Cited by 388 · see citing works
RAN Translation in Huntington Disease
Báñez-Coronel, M., Ayhan, F., Tarabochia, A. D., Zu, T., Pérez, B., Tusi, S. K., Pletniková, O., Borchelt, D., Ross, C. A., Margolis, R. L., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.10.038 · Cited by 356 · see citing works
Groh, M., Lufino, M. M., Wade‐Martins, R., & Gromak, N. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004318 · Cited by 355 · see citing works
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
Lalioti, M. D., Scott, H. S., Burési, C., Rossier, C., Bottani, A., Morris, M. A., Malafosse, A., & Antonarakis, S. E. (1997) · Nature · doi:10.1038/386847a0 · Cited by 353 · see citing works
Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations
Cossée, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J., & Koenig, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7452 · Cited by 330 · see citing works
Self-citationSwami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J. S., Myers, R. H., & Wheeler, V. C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp242 · Cited by 330 · see citing works
Genome-wide profiling of heritable and de novo STR variations
Willems, T., Zielinski, D., Yuan, J., Gordon, A., Gymrek, M., & Erlich, Y. (2017) · Nature Methods · doi:10.1038/nmeth.4267 · Cited by 329 · see citing works
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Tian, Y., Wang, J., Huang, W., Zeng, S., Jiao, B., Liu, Z., Zhao, C. N., Li, Y., Wang, Y. X., Min, H., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.013 · Cited by 328 · see citing works
lobSTR: A short tandem repeat profiler for personal genomesPreprint
Gymrek, M., Golan, D., Rosset, S., & Erlich, Y. (2012) · Genome Research · doi:10.1101/gr.135780.111 · Cited by 327 · 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
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
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Laumonnier, F., Ronce, N., Hamel, B. C. J., Thomas, P. Q., Lespinasse, J., Raynaud, M., Paringaux, C., van Bokhoven, H., Kalscheuer, V. M., Fryns, J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/344661 · Cited by 299 · see citing works
Therapies targeting DNA and RNA in Huntington's disease
Wild, E. J., & Tabrizi, S. J. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30280-6 · Cited by 299 · see citing works
Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
Colak, D., Zaninović, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., & Jaffrey, S. R. (2014) · Science · doi:10.1126/science.1245831 · Cited by 294 · see citing works
Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., & Koizumi, A. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.015 · Cited by 288 · see citing works
Baere, E. D. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.15.1591 · Cited by 286 · see citing works
Makino, S., Kaji, R., Ando, S., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512129 · Cited by 285 · see citing works
The landscape of human STR variation
Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project Consortium, Mittelman, D., & Erlich, Y. (2014) · Genome Research · doi:10.1101/gr.177774.114 · Cited by 283 · see citing works
The impact of short tandem repeat variation on gene expression
Feupe, S. F., Margoliash, J., Wang, C., Saini, S., Yanicky, R., Shleizer-Burko, S., Goren, A., & Gymrek, M. (2019) · Nature Genetics · doi:10.1038/s41588-019-0521-9 · Cited by 271 · see citing works
Profiling the genome-wide landscape of tandem repeat expansions
(2019) · doi:10.1093/nar/gkz501 · Cited by 270 · see citing works
Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.016 · Cited by 262 · see citing works
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
Goodman, F. R., Bacchelli, C., Brady, A. F., Brueton, L. A., Fryns, J., Mortlock, D. P., Innis, J. W., Holmes, L. B., Donnenfeld, A. E., Feingold, M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302961 · Cited by 254 · see citing works
Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature · doi:10.1038/s41586-020-2579-z · Cited by 238 · see citing works
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
Smith, B. N., Newhouse, S., Shatunov, A., Vance, C. A., Topp, S. D., Johnson, L., Miller, J. W., Lee, Y., Troakes, C., Scott, K. M., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.98 · Cited by 225 · see citing works
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Cortese, A., Tozza, S., Yau, W. Y., Rossi, S., Beecroft, S. J., Jaunmuktane, Z., Dyer, Z., Ravenscroft, G., Lamont, P. J., Mossman, S., et al. (2020) · Brain · doi:10.1093/brain/awz418 · Cited by 223 · see citing works
Zhu, Q., Jiang, J., Gendron, T. F., McAlonis-Downes, M., Jiang, L., Taylor, A., Diaz Garcia, S., Ghosh Dastidar, S., Rodriguez, M. J., King, P., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0619-5 · Cited by 220 · see citing works
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.
Wong, L.-J., Ashizawa, T., Monckton, D. G., Caskey, C. T., & Richards, C. S. (1995) · Europe PMC (PubMed Central) · Cited by 204 · see citing works
Dolzhenko, E., Bennett, M. F., Richmond, P. A., Trost, B., Chen, S., van Vugt, J. J. F. A., Nguyen, C. M., Narzisi, G., Gainullin, V. G., Gross, A. M., et al. (2020) · Genome biology · doi:10.1186/s13059-020-02017-z · Cited by 201 · see citing works
Fragile X premutation screening in women with premature ovarian failure
Conway, G. S., Payne, N. N., Webb, J. L., Murray, A., & Jacobs, P. A. (1998) · Human Reproduction · doi:10.1093/humrep/13.5.1184 · Cited by 198 · see citing works
Functional anatomy of the basal ganglia in X‐linked recessive dystonia‐parkinsonism
Goto, S., Lee, L. V., Muñoz, E. L., Tooyama, I., Tamiya, G., Makino, S., Ando, S., Dantes, M. B., Yamada, K., Matsumoto, S., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20513 · Cited by 191 · see citing works
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
Sun, Q., Xu, Q., Tian, Y., Hu, Z., Qin, L., Yang, J., Huang, W., Xue, J., Li, J., Zeng, S., et al. (2019) · Brain · doi:10.1093/brain/awz372 · Cited by 188 · see citing works
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
Margolis, R. L., O’Hearn, E., Rosenblatt, A., Willour, V. L., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., & Ross, C. A. (2001) · Annals of Neurology · doi:10.1002/ana.1312 · Cited by 183 · see citing works
Brown, L. Y. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.791 · Cited by 182 · see citing works
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
Tang, H., Kirkness, E. F., Lippert, C., Biggs, W., Fabani, M. M., Guzmán, E., Ramakrishnan, S. R., Lavrenko, V. P., Kakaradov, B., Hou, C., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.013 · Cited by 179 · see citing works
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
Bauer, P. O., & Nukina, N. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.06302.x · Cited by 178 · see citing works
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Charles, P., Camuzat, A., Benammar, N., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000269323.21969.db · Cited by 170 · see citing works
Bragg, D. C., Mangkalaphiban, K., Vaine, C. A., Kulkarni, N. J., Shin, D. S., Yadav, R., Dhakal, J., Ton, M.-L. N., Cheng, A., Russo, C. T., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1712526114 · Cited by 169 · see citing works
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
Self-citationDedic, N., Pöhlmann, M. L., Richter, J. S., Mehta, D., Czamara, D., Metzger, M., Dine, J., Bedenk, B. T., Hartmann, J., Wagner, K. V., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.133 · Cited by 163 · see citing works
Pearson, C. E., Eichler, E. E., Lorenzetti, D., Kramer, S. F., Zoghbi, H. Y., Nelson, D. L., & Sinden, R. R. (1998) · Biochemistry · doi:10.1021/bi972546c · Cited by 159 · see citing works
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
Self-citationAkarsu, N. A. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.7.945 · Cited by 158 · see citing works
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Mitsuhashi, S., Frith, M. C., Mizuguchi, T., Miyatake, S., Toyota, T., Adachi, H., Oma, Y., Kino, Y., Mitsuhashi, H., & Matsumoto, N. (2019) · Genome biology · doi:10.1186/s13059-019-1667-6 · Cited by 155 · see citing works
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Dashnow, H., Lek, M., Phipson, B., Halman, A., Sadedin, S., Lonsdale, A., Davis, M. R., Lamont, P. J., Clayton, J. S., Laing, N. G., et al. (2018) · Genome biology · doi:10.1186/s13059-018-1505-2 · Cited by 155 · see citing works
A genomic view of short tandem repeats
Gymrek, M. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.01.012 · Cited by 154 · see citing works
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Deng, J., Yu, J., Li, P., Luan, X., Cao, L. H., Zhao, J., Yu, M., Zhang, W. Y., Lv, H., Xie, Z., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.011 · Cited by 152 · see citing works
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
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
Nakamori, M., Panigrahi, G. B., Lanni, S., Gall-Duncan, T., Hayakawa, H., Tanaka, H., Luo, J., Otabe, T., Li, J., Sakata, A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0575-8 · Cited by 147 · see citing works
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2
Zu, T., Cleary, J. D., Liu, Y., Báñez-Coronel, M., Bubenik, J. L., Ayhan, F., Ashizawa, T., Xia, G., Clark, H. B., Yachnis, A. T., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.08.039 · Cited by 141 · see citing works
Cleary, J. D., & Pearson, C. E. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072837 · Cited by 138 · see citing works
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
Tankard, R. M., Bennett, M. F., Degorski, P., Delatycki, M. B., Lockhart, P. J., & Bahlo, M. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.015 · Cited by 138 · see citing works
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Xi, Z., Zhang, M., Bruni, A. C., Maletta, R., Colao, R., Fratta, P., Polke, J. M., Sweeney, M. G., Mudanohwo, E. E., Nacmias, B., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1401-8 · Cited by 136 · 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
CRISPR/Cas9‐mediated genome editing: From basic research to translational medicine
Jacinto, F. V., Link, W., & Ferreira, B. I. (2020) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.14916 · Cited by 130 · see citing works
ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing
Satoh, K., Abe-Dohmae, S., Yokoyama, S., St George-Hyslop, P., & Fraser, P. E. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.655076 · Cited by 128 · see citing works
Mootha, V. V., Gong, X., Ku, H.-C., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-12611 · Cited by 121 · see citing works
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Okubo, M., Doi, H., Fukai, R., Fujita, A., Mitsuhashi, S., Hashiguchi, S., Kishida, H., Ueda, N., Morihara, K., Ogasawara, A., et al. (2019) · Annals of Neurology · doi:10.1002/ana.25586 · Cited by 120 · see citing works
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Yeetong, P., Pongpanich, M., Srichomthong, C., Assawapitaksakul, A., Shotelersuk, V., Tantirukdham, N., Chunharas, C., Suphapeetiporn, K., & Shotelersuk, V. (2019) · Brain · doi:10.1093/brain/awz267 · Cited by 118 · see citing works
LaCroix, A. J., Stabley, D. L., Sahraoui, R., Adam, M. P., Mehaffey, M. G., Kernan, K. A., Myers, C. T., Fagerstrom, C., Anadiotis, G., Akkari, Y. M. N., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.005 · Cited by 112 · see citing works
An expanded CAG repeat sequence in spinocerebellar ataxia type 7.Preprint
Lindblad, K., Savontaus, M., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., et al. (1996) · Genome Research · doi:10.1101/gr.6.10.965 · Cited by 111 · see citing works
van Rootselaar, A., van Schaik, I. N., van den Maagdenberg, A. M. J. M., Koelman, J. H. T. M., Callenbach, P. M. C., & Tijssen, M. A. J. (2005) · Movement Disorders · doi:10.1002/mds.20413 · Cited by 111 · see citing works
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy
Mootha, V. V., Hussain, I., Cunnusamy, K., Graham, E., Gong, X., Neelam, S., Xing, C., Kittler, R., & Petroll, W. M. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-16222 · Cited by 110 · see citing works
Song, J. H. T., Lowe, C. B., & Kingsley, D. M. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.011 · Cited by 109 · see citing works
Cumming, S. A., Hamilton, M., Robb, Y., Gregory, H., McWilliam, C. A., Cooper, A., Adam, B., McGhie, J., Hamilton, G. M., Herzyk, P., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0156-9 · Cited by 108 · see citing works
The CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
Stoyas, C. A., & Spada, A. R. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00011-7 · Cited by 104 · see citing works
Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model
Nguyen, L., Montrasio, F., Pattamatta, A., Tusi, S. K., Bardhi, O., Meyer, K. D., Hayes, L. R., Nakamura, K., Báñez-Coronel, M., Coyne, A. N., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.11.007 · Cited by 104 · see citing works
Eichler, E. E. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.3.319 · Cited by 103 · see citing works
DNA repair in the trinucleotide repeat disorders
Jones, L., Houlden, H., & Tabrizi, S. J. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30350-7 · Cited by 99 · see citing works
Buijsen, R. A. M., Visser, J. A., Kramer, P. F., Severijnen, E., Gearing, M., Charlet‐Berguerand, N., Sherman, S. L., Berman, R. F., Willemsen, R., & Hukema, R. K. (2015) · Human Reproduction · doi:10.1093/humrep/dev280 · Cited by 97 · see citing works
CANVAS an update: Clinical presentation, investigation and management
Szmulewicz, D. J., McLean, C., MacDougall, H. G., Roberts, L. J., Storey, E., & Waterston, J. A. (2014) · Journal of Vestibular Research · doi:10.3233/ves-140536 · Cited by 95 · see citing works
Interpreting short tandem repeat variations in humans using mutational constraint
Gymrek, M., Willems, T., Reich, D., & Erlich, Y. (2017) · Nature Genetics · doi:10.1038/ng.3952 · Cited by 94 · see citing works
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
On Behalf of the BELNEU Consortium, De Roeck, A., Duchateau, L., Van Dongen, J., Cacace, R., Bjerke, M., Van den Bossche, T., Cras, P., Vandenberghe, R., De Deyn, P. P., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1841-z · Cited by 93 · see citing works
A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Westenberger, A., Reyes, C. J., Saranza, G., Dobričić, V., Hanßen, H., Domingo, A., Laabs, B., Schaake, S., Pozojevic, J., Raković, A., et al. (2019) · Annals of Neurology · doi:10.1002/ana.25488 · Cited by 93 · see citing works
Utsch, B., Becker, K., Brock, D., Lentze, M. J., BIDLINGMAIER, F., & Ludwig, M. Z. (2002) · Human Genetics · doi:10.1007/s00439-002-0712-8 · Cited by 91 · see citing works
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
Kuilenburg, A. B. P., Tarailo‐Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand‐Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1806627 · Cited by 91 · see citing works
Molecular mechanisms underlying polyalanine diseases
Messaed, C., & Rouleau, G. A. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.02.013 · Cited by 89 · see citing works
Roeck, A. D., Coster, W. D., Bossaerts, L., Cacace, R., Pooter, T. D., Dongen, J. V., D’Hert, S., Rijk, P. D., Stražišar, M., Broeckhoven, C. V., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1856-3 · Cited by 88 · see citing works
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
Fang, P., Yu, Y., Yao, S., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51021 · Cited by 86 · see citing works
Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y. A., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.11.005 · Cited by 82 · see citing works
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias
Jiao, B., Zhou, L., Zhou, Y., Weng, L., Liao, X., Tian, Y., Guo, L., Liu, X., Yuan, Z., Xiao, X., et al. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.01.010 · Cited by 80 · see citing works
Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10
Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R. P., Achari, M., Alonso, M. E., Pulst, S. M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421526 · Cited by 79 · see citing works
Akçimen, F., Ross, J. P., Bourassa, C. V., et al. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01219 · Cited by 76 · see citing works
DNA repair in the trinucleotide repeat disorders
Jones, L., Houlden, H., & Tabrizi, S. J. (2017) · UCL Discovery (University College London) · Cited by 76 · see citing works
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
<i>ABCA7</i> rare variants and Alzheimer disease risk
Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002627 · Cited by 69 · see citing works
RNA biology of disease-associated microsatellite repeat expansions
Rohilla, K. J., & Gagnon, K. T. (2017) · Acta Neuropathologica Communications · doi:10.1186/s40478-017-0468-y · Cited by 66 · see citing works
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing
Doi, K., Monjo, T., Hoang, P. H., Yoshimura, J., Yurino, H., Mitsui, J., Ishiura, H., Takahashi, Y., Ichikawa, Y., Goto, J., et al. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt647 · Cited by 65 · see citing works
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy
Wan, L., Chen, Z., Wan, N., et al. (2020) · Annals of Neurology · doi:10.1002/ana.25902 · Cited by 64 · see citing works
Richard, R. S. (2007) · Frontiers in bioscience · doi:10.2741/2427 · Cited by 59 · see citing works
Kraus-Perrotta, C., & Lagalwar, S. (2016) · Cerebellum & Ataxias · doi:10.1186/s40673-016-0058-y · Cited by 59 · see citing works
Santoro, M., Masciullo, M., Silvestri, G., Novelli, G., & Botta, A. (2016) · Clinical Genetics · doi:10.1111/cge.12954 · Cited by 59 · see citing works
Repeat-associated non-AUG (RAN) translation: insights from pathology
Báñez-Coronel, M., & Ranum, L. P. W. (2019) · Laboratory Investigation · doi:10.1038/s41374-019-0241-x · Cited by 57 · 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
Nemeth, A. H., Nolte, D., Dunne, E., Niemann, S., Kostrzewa, M., Peters, U., Fraser, E., Bochukova, E. G., Butler, R. J., Brown, J., et al. (1999) · Genomics · doi:10.1006/geno.1999.5929 · Cited by 54 · see citing works
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
Corral‐Juan, M., Serrano, C., Rábano, A., et al. (2018) · Brain · doi:10.1093/brain/awy137 · Cited by 54 · see citing works
van den Ende, T., Sharifi, S., der Salm, S. M. A. V., et al. (2018) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.434 · Cited by 52 · see citing works
Personalized gene silencing therapeutics for Huntington disease
Kay, C., Skotte, N. H., Southwell, A. L., & Hayden, M. R. (2014) · Clinical Genetics · doi:10.1111/cge.12385 · Cited by 51 · see citing works
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
Tsuchiya, M., Nan, H., Koh, K., Ichinose, Y., Gao, L., Shimozono, K., Hata, T., Kim, Y., Ohtsuka, T., Cortese, A., et al. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0807-x · Cited by 47 · see citing works
Unaffected mosaic C9orf72 case
McGoldrick, P., Zhang, M., van Blitterswijk, M., Sato, C., Moreno, D., Xiao, S., Zhang, A. B., McKeever, P. M., Weichert, A., Schneider, R., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004865 · Cited by 46 · see citing works
Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2
Matsuura, T., Sasaki, H., Yabe, I., Hamada, K., Hamada, T., Shitara, M., & Tashiro, K. (1999) · Journal of Neurology · doi:10.1007/s004150050464 · Cited by 44 · see citing works
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
Ruggieri, A., Naumenko, S., Smith, M. A., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-020-02164-4 · Cited by 43 · see citing works
Non-LTR retrotransposons and microsatellites
Grandi, F. C., & An, W. (2013) · Mobile Genetic Elements · doi:10.4161/mge.25674 · Cited by 42 · see citing works
Chen, Z., Xu, Z., Cheng, Q., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13802 · Cited by 42 · see citing works
Repeat-Associated Non-ATG Translation in Neurological DiseasesPreprint
Zu, T., Pattamatta, A., & Ranum, L. P. W. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a033019 · Cited by 41 · see citing works
Mattioli, F., Hayot, G., Drouot, N., Isidor, B., Courraud, J., Hinckelmann, M.-V., Mau‐Them, F. T., Sellier, C., Goldman, A. M., Telegrafi, A. B., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.02.013 · Cited by 41 · see citing works
Self-citationvan den Ende, T., Sharifi, S., der Salm, S. M. A. V., et al. (2017) · PubMed · doi:10.7916/d85155wj · Cited by 36 · see citing works
Bennett, M. F., Oliver, K. L., Regan, B. M., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0606-z · Cited by 34 · see citing works
Mechanisms of transcriptional dysregulation in repeat expansion disorders
Groh, M., Silva, L. M., & Gromak, N. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140049 · Cited by 33 · see citing works
Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder
Chen, H., Lu, L., Wang, B., et al. (2020) · Brain · doi:10.1093/brain/awaa142 · Cited by 32 · see citing works
Therapeutic strategies for Huntington's disease
Estevez‐Fraga, C., Flower, M. D., & Tabrizi, S. J. (2020) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000835 · Cited by 31 · see citing works
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events
Martins, S., & Sequeiros, J. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-71779-1_12 · Cited by 29 · see citing works
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
Joosten, I. B. T., Hellebrekers, D. M. E. I., de Greef, B. T. A., Smeets, H. J. M., de Die-Smulders, C. E. M., Faber, C. G., & Gerrits, M. M. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0601-4 · Cited by 29 · see citing works
Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome
Mor‐Shaked, H., & Eiges, R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00031 · Cited by 27 · see citing works
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
Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy
Cen, Z., Chen, Y., Yang, D., et al. (2019) · Movement Disorders · doi:10.1002/mds.27832 · Cited by 27 · see citing works
Neurogenetica, O. B. O. R., Bampi, G., Bisso‐Machado, R., Hünemeier, T., Gheno, T. C., Furtado, G. V., Véliz-Otani, D. M., Cornejo‐Olivas, M., Mazzeti, P., Bortolini, M. C., et al. (2017) · NeuroMolecular Medicine · doi:10.1007/s12017-017-8464-8 · Cited by 25 · see citing works
Rosario, R., & Anderson, R. A. (2020) · Molecular Human Reproduction · doi:10.1093/molehr/gaaa057 · Cited by 24 · see citing works
Moulard, B., Genton, P., Grid, D., et al. (2002) · Human Genetics · doi:10.1007/s00439-002-0755-x · Cited by 22 · see citing works
Grabczyk, E., Kumari, D., & Usdin, K. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00572-x · Cited by 22 · see citing works
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
Yau, W. Y., Sullivan, R., Chen, Z., et al. (2020) · Annals of Neurology · doi:10.1002/ana.25818 · Cited by 20 · see citing works
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood
Gousse, G., Patural, H., Touraine, R. L., et al. (2017) · Archives de Pédiatrie · doi:10.1016/j.arcped.2017.09.029 · Cited by 16 · see citing works
DMPK‐associated myotonic dystrophy and CTG repeats in Alabama African Americans
Acton, R. T., Rivers, C., Watson, B., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00883.x · Cited by 15 · see citing works
Weinhaeusel, A., Morris, M. A., Antonarakis, S. E., et al. (2003) · Human Mutation · doi:10.1002/humu.10276 · Cited by 14 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Comprehensive genome analysis and variant detection at scale using DRAGEN
Behera, S., Catreux, S., Rossi, M., Truong, S., Huang, Z., Ruehle, M., Visvanath, A., Parnaby, G., Roddey, C., Onuchic, V., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-024-02382-1 · Cited by 137 · see citing works
Analysis and benchmarking of small and large genomic variants across tandem repeats
English, A. C., Dolzhenko, E., Ziaei Jam, H., McKenzie, S. K., Olson, N. D., De Coster, W., Park, J., Gu, B., Wagner, J., Eberle, M. A., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-024-02225-z · Cited by 68 · see citing works
Fragile sites, chromosomal lesions, tandem repeats, and disease
Mirceta, M., Shum, N., Schmidt, M. H. M., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.985975 · Cited by 30 · see citing works
Wendt, F. R., Pathak, G. A., & Polimanti, R. (2022) · Nature Communications · doi:10.1038/s41467-022-35423-x · Cited by 12 · see citing works
The genetic architecture of pentanucleotide repeat variation and disease association
Xu, I. R. L., Pellerin, D., Van De Vondel, L., Weisburd, B., Dolzhenko, E., Danzi, M. C., & Zuchner, S. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.09.017
- Authors
- Depienne, C., & Mandel, J.-L.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Depienne, Christel
- Mandel, Jean-Louis
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2021-05
- Volume
- 108
- Issue
- 5
- Pages
- 764-785
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC8205997
- OpenAlex
- W3147352572
- Semantic Scholar
- 4667c3b1f49cabfbd5b88fc61fd1198249cd3318
- Cited by
- 429
- References
- 167
- Citations by year
- 2026: 64 · 2025: 108 · 2024: 125 · 2023: 62 · 2022: 59 · 2021: 10 · 2013: 1
- FWCI
- 9.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by-nc)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- Funders
- Deutsche Stiftung Neurologie
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- repeat expansion disorders, tandem repeats, trinucleotide repeat instability, central nervous system disorders, molecular diagnosis, long-read sequencing, pathophysiological mechanisms, personalized treatment, rare genetic disorders
- MeSH terms
- Genes, Dominant, Genes, Recessive, Humans, Time Factors, Genome, Human, Founder Effect, Trinucleotide Repeat Expansion, Anticipation, Genetic, Biomedical Research
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
