LINE-1 Elements in Structural Variation and Disease

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557

The complete genome of an individual by massively parallel DNA sequencing

Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838

The Diploid Genome Sequence of an Individual Human

Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778

The origin and behavior of mutable loci in maize

McClintock, B. (1950) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.36.6.344 · Cited by 1,752

Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis

Mi, S., Lee, X., Li, X., Veldman, G. M., Finnerty, H. F., Collins‐Racie, L. A., LaVallie, E. R., Tang, X.-Y., Edouard, P., Howes, S., et al. (2000) · Nature · doi:10.1038/35001608 · Cited by 1,711

Chromothripsis, a credible chromosomal mechanism in evolutionary process

Pellestor, F., & Gâtinois, V. (2018) · Chromosoma · doi:10.1007/s00412-018-0679-4 · Cited by 16

Bridging the Gap Between Environmental Adversity and Neuropsychiatric Disorders: The Role of Transposable Elements

DeRosa, H., Richter, T. A., Wilkinson, C. D., & Hunter, R. G. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.813510 · Cited by 16

Induction of transposable element expression is central to innate sensingPreprint

Rookhuizen, D. C., Bonté, P., Ye, M., Hoyler, T., Gentili, M., Burgdorf, N., Durand, S., Aprahamian, F., Kroemer, G., Manel, N., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.10.457789 · Cited by 16

Sex-specific role of the optic gland in octopus maya: A transcriptomic analysis

Ventura-López, C., López-Galindo, L. L., Rosas, C., Sánchez‐Castrejón, E., Galindo-Torres, P., Pascual, C., Rodríguez‐Fuentes, G., Juárez, O. E., & Galindo‐Sánchez, C. E. (2022) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2022.114000 · Cited by 15

Condensin I and condensin II proteins form a LINE-1 dependent super condensin complex and cooperate to repress LINE-1

Ward, J. R., Khan, A., Torres, S., Crawford, B., Nock, S. L., Frisbie, T. J., Moran, J. V., & Longworth, M. S. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac802 · Cited by 15

Genomes of autotetraploid wild and cultivated Ziziphus mauritiana reveal polyploid evolution and crop domestication

Guo, M., Bi, G., Wang, H., Ren, H., Chen, J., Lian, Q., Wang, X., Fang, W., Zhang, J., Dong, Z., et al. (2024) · PLANT PHYSIOLOGY · doi:10.1093/plphys/kiae512 · Cited by 15

CRISPR-Enabled Autonomous Transposable Element (CREATE) for RNA-based gene editing and delivery

Wang, Y., Lin, R., Harris, M. T., Lavayen, B. P., Diwanji, N., McCreedy, B. J., Hofmeister, R., & Getts, D. R. (2025) · EMBO Reports · doi:10.1038/s44319-024-00364-7 · Cited by 15

Transposable elements as genome regulators in normal and malignant haematopoiesis

Prokopov, D., Tunbak, H., Leddy, E., Drylie, B., Camera, F., & Deniz, Ö. (2025) · Blood Cancer Journal · doi:10.1038/s41408-025-01295-9 · Cited by 15

The Mobilome of Reptiles: Evolution, Structure, and Function

Boissinot, S., Bourgeois, Y., Manthey, J. D., & Ruggiero, R. P. (2019) · Cytogenetic and Genome Research · doi:10.1159/000496416 · Cited by 15

Translocation junctions in TCF3-PBX1 acute lymphoblastic leukemia/lymphoma cluster near transposable elements

Rodić, N., Zampella, J. G., Cornish, T. C., Wheelan, S. J., & Burns, K. H. (2013) · Mobile DNA · doi:10.1186/1759-8753-4-22 · Cited by 15

Tumor-augmenting effects of gestational arsenic exposure on F1 and F2 in mice

Nohara, K., Suzuki, T., Okamura, K., Matsushita, J., & Takumi, S. (2017) · Genes and Environment · doi:10.1186/s41021-016-0069-1 · Cited by 15

Study of Transposable Elements and Their Genomic Impact

Muñoz-López, M., Vilar‐Astasio, R., Tristán-Ramos, P., Lopez‐Ruiz, C., & Garcia-Perez, J. L. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3372-3_1 · Cited by 15

Transposable elements, placental development, and oocyte activation: Cellular stress and AMPK links jumping genes with the creation of human life

Finley, J. (2018) · Medical Hypotheses · doi:10.1016/j.mehy.2018.05.015 · Cited by 15

Effects of assisted reproductive technologies on transposon regulation in the mouse pre-implanted embryo

Carmignac, V., Barberet, J., Iranzo, J., Quéré, R., Guilleman, M., Bourc’his, D., & Fauque, P. (2019) · Human Reproduction · doi:10.1093/humrep/dez020 · Cited by 15

An overview about DNA methylation in childhood obesity: Characteristics of the studies and main findings

Lima, R. S., Gomes, J. D. A. S., & Moreira, P. R. (2019) · Journal of Cellular Biochemistry · doi:10.1002/jcb.29544 · Cited by 15

Early life experience shapes neural genome

Song, S., & Gleeson, J. G. (2018) · Science · doi:10.1126/science.aat3977 · Cited by 15

Inflammatory mitochondrial signalling and viral mimicry in cancer

Nesci, S., Marchi, S., Hu, J. K., Marincola, F. M., & Algieri, C. (2025) · Journal of Translational Medicine · doi:10.1186/s12967-025-06931-3 · Cited by 14

Sequestration of LINE‐1 in cytosolic aggregates by MOV10 restricts retrotransposition

Arora, R., Bodak, M., Penouty, L., Hackman, C., & Ciaudo, C. (2022) · EMBO Reports · doi:10.15252/embr.202154458 · Cited by 14

A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome

Mun, S., Kim, S., Lee, W., Kang, K., Meyer, T. J., Han, B., Han, K., & Kim, H. (2021) · Experimental & Molecular Medicine · doi:10.1038/s12276-021-00586-y · Cited by 14

The 5′ truncation of retrotransposon L1: a process of genome integrity

Levin, H. L., Lee, S., & Anand, A. (2025) · Genetics · doi:10.1093/genetics/iyaf202 · Cited by 13

Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis

Zumalave, S., Santamarina, M., Espasandín, N. P., Zamora, J., García‐Souto, D., Temes, J., Baker, T. M., Rodríguez‐Castro, J., Otero, P., Pequeño‐Valtierra, A., et al. (2026) · Science · doi:10.1126/science.aee4513 · Cited by 13

Comparative analysis of transposable elements provides insights into genome evolution in the genus Camelus

Ibrahim, M. A., Al-Shomrani, B. M., Simenc, M., Alharbi, S. N., Alqahtani, F., Al‐Fageeh, M. B., & Manee, M. M. (2021) · BMC Genomics · doi:10.1186/s12864-021-08117-9 · Cited by 13

INSnet: a method for detecting insertions based on deep learning network

Gao, R., Luo, J., Ding, H., & Zhai, H. (2023) · BMC Bioinformatics · doi:10.1186/s12859-023-05216-0 · Cited by 13

Acute and chronic resistance training downregulates select LINE-1 retrotransposon activity markers in human skeletal muscle

Romero, M. A., Mobley, C. B., Mumford, P. W., Roberson, P. A., Haun, C. T., Kephart, W. C., Healy, J. C., Beck, D. T., Young, K. C., Martin, J. S., et al. (2017) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00192.2017 · Cited by 13

Unbiased proteomic mapping of the LINE-1 promoter using CRISPR Cas9

Briggs, E. M., Mita, P., Sun, X., Ha, S., Vasilyev, N., Leopold, Z., Nudler, E., Boeke, J. D., & Logan, S. K. (2021) · Mobile DNA · doi:10.1186/s13100-021-00249-9 · Cited by 13

Early life stress increases Line1 within the developing brain in a sex-dependent manner

Cuarenta, A., Kigar, S. L., Henion, I. C., Karls, K. E., Chang, L., Bakshi, V. P., & Auger, A. P. (2020) · Brain Research · doi:10.1016/j.brainres.2020.147123 · Cited by 12

Mammalian genome evolution as a result of epigenetic regulation of transposable elements

Buckley, R. M., & Adelson, D. L. (2014) · BioMolecular Concepts · doi:10.1515/bmc-2014-0013 · Cited by 12

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs

Everson, R., Pettitt, L., Forman, O. P., Dower-Tylee, O., McLaughlin, B., Ahonen, S., Kaukonen, M. K., Komáromy, A. M., Lohi, H., Mellersh, C. S., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0183021 · Cited by 12

LINE-1 retrotransposition impacts the genome of human pre-implantation embryos and extraembryonic tissuesPreprint

Muñoz-López, M., Vilar, R., Philippe, C., Rahbari, R., Richardson, S. R., Andrés-Antón, M., Widmann, T. J., Cano, D., Cortés, J. L., Rubio-Roldán, A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/522623 · Cited by 12

Cross-Kingdom Commonality of a Novel Insertion Signature of RTE-Related Short Retroposons

Nishiyama, E., & Ohshima, K. (2018) · Genome Biology and Evolution · doi:10.1093/gbe/evy098 · Cited by 11

TIP_finder: An HPC Software to Detect Transposable Element Insertion Polymorphisms in Large Genomic Datasets

Orozco-Arias, S., Orozco, N. T., Piña, J. S., Varón, C. F. J., Tabares-Soto, R., & Guyot, R. (2020) · Biology · doi:10.3390/biology9090281 · Cited by 11

Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome

Yang, L., Metzger, G. A., Valle, R. P. D., Rubalcaba, D. D., & McLaughlin, R. N. (2023) · The EMBO Journal · doi:10.1038/s44318-023-00007-y · Cited by 11

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

Kaul, T. K., Morales, M. E., Smither, E., Baddoo, M., Belancio, V. P., & Deininger, P. L. (2019) · Journal of Visualized Experiments · doi:10.3791/59771 · Cited by 11

Endogenous double-stranded RNA: Bridging immune activation and cancer therapeutics

Liu, X., Che, L., & Weng, H. (2025) · Cell investigation. · doi:10.1016/j.clnves.2025.100018 · Cited by 10

Applications of advanced technologies for detecting genomic structural variation

Laufer, V. A., Glover, T. W., & Wilson, T. E. (2023) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2023.108475 · Cited by 10

Celine, a long interspersed nuclear element retrotransposon, colonizes in the centromeres of poplar chromosomes

Xin, H., Wang, Y., Zhang, W., Bao, Y., Neumann, P., Ning, Y., Zhang, T., Wu, Y., Jiang, N., Jiang, J., et al. (2024) · PLANT PHYSIOLOGY · doi:10.1093/plphys/kiae214 · Cited by 10

Advances in PIWI-piRNA function in female reproduction in mammals

Lv, X., Zhang, H., & Wu, L. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024195 · Cited by 10

Transition from normal to cancerous cell by precancerous niche (PCN) induced chronic cell-matrix stress

Brücher, B. L. D. M., & Jamall, I. S. (2019) · 4open · doi:10.1051/fopen/2018996 · Cited by 10

Duplications and Retrogenes Are Numerous and Widespread in Modern Canine Genomic Assemblies

Nguyen, A. K., Blacksmith, M. S., & Kidd, J. M. (2024) · Genome Biology and Evolution · doi:10.1093/gbe/evae142 · Cited by 10

LINE-1 and Alu retrotransposition exhibit clonal variation

Streva, V. A., Faber, Z. J., & Deininger, P. L. (2013) · Mobile DNA · doi:10.1186/1759-8753-4-16 · Cited by 10

Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase

Wang, Y., Shen, L., Smith, K., Waldman, B. C., & Waldman, A. S. (2016) · DNA repair · doi:10.1016/j.dnarep.2016.03.005 · Cited by 10

Modulation of LINE-1 retrotransposition by a human SAMHD1 polymorphism

White, T. E., Brandariz-Núñez, A., Han, K., Sawyer, S. L., Kim, B., & Diaz‐Griffero, F. (2016) · Virology Reports · doi:10.1016/j.virep.2016.06.001 · Cited by 10

Human transposon insertion profiling by sequencing (TIPseq) to map LINE-1 insertions in single cells

McKerrow, W., Tang, Z., Steranka, J. P., Payer, L. M., Boeke, J. D., Keefe, D. L., Fenyö, D., Burns, K. H., & Liu, C. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0335 · Cited by 10

Mechanism of DNA targeting by human LINE-1

Jin, W., Yu, C., Zhang, Y., Cao, C., Xia, T., Song, G., Cai, Z., Xue, Y., Zhu, B., & Xu, R.-M. (2025) · Science · doi:10.1126/science.adu3433 · Cited by 9

Targeting age-related LINE-1 activation alleviates cardiac aging

Yang, C., Du, H., Liu, S., Xu, P., Wang, Y., Zhou, Y., Yuan, H., Li, Y., Shen, J., Yuan, X., et al. (2026) · Nature Aging · doi:10.1038/s43587-025-01056-0 · Cited by 9

Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data

Lee, H., Min, J. W., Mun, S., & Han, K. (2022) · Life · doi:10.3390/life12101583 · Cited by 9

Affinity-Based Interactome Analysis of Endogenous LINE-1 Macromolecules

Stefano, L. H. D., Saba, L. J., Oghbaie, M., Jiang, H. L., McKerrow, W., Benitez‐Guijarro, M., Taylor, M. S., & LaCava, J. (2022) · Methods in molecular biology · doi:10.1007/978-1-0716-2883-6_12 · Cited by 9

Maternal non-compliance with recommended folic acid supplement use alters global DNA methylation in cord blood of newborns: A cohort study

Morales, E., Prieto‐Sánchez, M. T., Mendiola, J., Cutillas-Tolín, A., Adoamnei, E., Valera‐Gran, D., Martínez‐Graciá, C., Santaella, M., Suárez-Martínez, C., Vioqué, J., et al. (2024) · Clinical Nutrition · doi:10.1016/j.clnu.2024.04.007 · Cited by 9

Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease

Ramirez, P., Sun, W., Dehkordi, S. K., Zare, H., Pascarella, G., Carninci, P., Fongang, B., Bieniek, K. F., & Frost, B. E. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70852 · Cited by 9

De novo LINE - 1 retrotransposition in HepG2 cells preferentially targets gene poor regions of chromosome 13

Bojang, P., Anderton, M. J., Roberts, R. A., & Ramos, K. S. (2014) · Genomics · doi:10.1016/j.ygeno.2014.07.001 · Cited by 9

Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA)

Ha, H., Loh, J. W., & Xing, J. (2016) · Mobile DNA · doi:10.1186/s13100-016-0072-x · Cited by 9

Insights into the RNA binding mechanism of human L1-ORF1p: a molecular dynamics study

Rajagopalan, M., Balasubramanian, S., & Ramaswamy, A. (2017) · Molecular BioSystems · doi:10.1039/c7mb00358g · Cited by 9

Structure, clustering and functional insights of repeats configurations in the upstream promoter region of the human coding genes

Tobar-Tosse, F., Vélez, P. E., Toro, E. O., & Moreno, P. A. (2018) · BMC Genomics · doi:10.1186/s12864-018-5196-6 · Cited by 9

LINE-1 ribonucleoprotein condensates bind DNA to enable nuclear entry during mitosis

Zernia, S., Ettefa, F., Sil, S., Koeman, C., Deplazes-Lauber, J., Freitag, M., Holt, L. J., & Stigler, J. (2025) · Science Advances · doi:10.1126/sciadv.adt9318 · Cited by 8

Transposable element DNA and RNA: Drivers of gene expression, evolution, and disease

Ho, J., Douse, C. H., & Marazzi, I. (2026) · Cell · doi:10.1016/j.cell.2026.05.003 · Cited by 8

Dynamic interplay between human alpha-satellite DNA structure and centromere functions

Tommaso, E. D., & Giunta, S. (2023) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2023.10.002 · Cited by 8

LINE ‐1 hypomethylation characterizes the inflammatory response in coeliac disease associated‐intestinal mucosa and small bowel adenocarcinomas

Libera, L., Vanoli, A., Sahnane, N., Adnan, M., Guerini, C., Arpa, G., Bianchi, P. I., Lenti, M. V., Corazza, G. R., Rosa, S. L., et al. (2024) · The Journal of Pathology · doi:10.1002/path.6371 · Cited by 8

Selective identification of epigenetic regulators at methylated genomic sites by SelectID

Qian, W., Jiang, P., Niu, M., Fu, Y., Huang, D., Zhang, D., Liang, Y. J., Wang, Q., Han, Y., Zeng, X., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59002-y · Cited by 8

Combining Amplification Typing of L1 Active Subfamilies (ATLAS) with High-Throughput Sequencing

Rahbari, R., & Badge, R. M. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3372-3_6 · Cited by 8

Genomic copy number variation analysis in multiple system atrophy

Hama, Y., Katsu, M., Takigawa, I., Yabe, I., Matsushima, M., Takahashi, I., Katayama, T., Utsumi, J., & Sasaki, H. (2017) · Molecular Brain · doi:10.1186/s13041-017-0335-6 · Cited by 8

In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs

Alzahrani, F. A., Hawsawi, Y. M., Altayb, H. N., Alsiwiehri, N. O., Alzahrani, O. R., Alatwi, H. E., Al‐Amer, O. M., Alomar, S. Y., & Mansour, L. A. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1707 · Cited by 8

Ribonucleoprotein Granules: Between Stress and Transposable Elements

Moon, S., & Namkoong, S. (2023) · Biomolecules · doi:10.3390/biom13071027 · Cited by 8

MILI, a PIWI family protein, inhibits melanoma cell migration through methylation of LINE1

Wang, X., Chen, J., Fu, B., Zhu, R., Diao, F., Xu, N., Chen, Z., Tao, W., & Li, C. (2015) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2015.01.007 · Cited by 8

Conformational analysis on the wild type and mutated forms of human ORF1p: a molecular dynamics study

Rajagopalan, M., Balasubramanian, S., & Ramaswamy, A. (2015) · Molecular BioSystems · doi:10.1039/c5mb00194c · Cited by 8

Mobile DNA Elements: The Seeds of Organic Complexity on Earth

Habibi, L., Pedram, M., Amirfiroozi, A., & Bonyadi, K. (2015) · DNA and Cell Biology · doi:10.1089/dna.2015.2938 · Cited by 8

High homology is not required at the site of strand invasion during recombinational double-strand break repair in mammalian chromosomes

Chapman, K. M., Wilkey, M. M., Potter, K. E., Waldman, B. C., & Waldman, A. S. (2017) · DNA repair · doi:10.1016/j.dnarep.2017.10.006 · Cited by 8

Human L1 Transposition Dynamics Unraveled with Functional Data Analysis

Chen, D., Cremona, M. A., Qi, Z., Mitra, R. D., Chiaromonte, F., & Makova, K. D. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa194 · Cited by 10

Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans

Wang, Y., Zhao, B., Choi, J., & Lee, E. A. (2021) · Mobile DNA · doi:10.1186/s13100-021-00250-2 · Cited by 8

Effect of electromagnetic field exposure on the transcription of repetitive DNA elements in human cells

Re, B. D., Bersani, F., & Giorgi, G. (2019) · Electromagnetic Biology and Medicine · doi:10.1080/15368378.2019.1669634 · Cited by 8

Differential Responses of LINE-1 in the Dentate Gyrus, Striatum and Prefrontal Cortex to Chronic Neurotoxic Methamphetamine: A Study in Rat Brain

Moszczyńska, A. (2020) · Genes · doi:10.3390/genes11040364 · Cited by 8

Recombination of repeat elements generates somatic complexity in human genomesPreprint

Pascarella, G., Hashimoto, K., Busch, A., Luginbühl, J., Parr, C., Hon, C.-C., Yip, W. H., Abe, K., Kratz, A., Bonetti, A., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.02.163816 · Cited by 8

Synchronous L1 retrotransposition events promote chromosomal crossover early in human tumorigenesisPreprint

Zumalave, S., Santamarina, M., Espasandín, N. P., García‐Souto, D., Temes, J., Baker, T. M., Pequeño‐Valtierra, A., Otero, I., Rodríguez‐Castro, J., Oitabén, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.27.596794 · Cited by 8

DNA and RNA Methylation in Rheumatoid Arthritis—A Narrative Review

Kiełbowski, K., Bakinowska, E., Gorący, A., Figiel, K., Judek, R., Rosik, J., Dec, P., Modrzejewski, A., & Pawlik, A. (2025) · Epigenomes · doi:10.3390/epigenomes9010002 · Cited by 7

The role of KRAB zinc-finger proteins in expanding the domestication potential of transposable elements

Davis, J., Voicu, D., Chitnavis, U., Jaksina, J., & Imbeault, M. (2026) · Nature Genetics · doi:10.1038/s41588-025-02498-3 · Cited by 7

LINE-1 mRNA 3′ end dynamics shape its biology and retrotransposition potential

Janecki, D. M., Sen, R., Szóstak, N., Kajdasz, A., Kordyś, M., Plawgo, K., Pandakov, D., Philips, A., & Warkocki, Z. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkad1251 · Cited by 7

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

Baumann, A., Knol, L. I., Arlt, M., Hutschenreiter, T., Richter, A., Widmann, T. J., Franke, M., Hackmann, K., Winkler, S., Richter, D., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00485-5 · Cited by 7

Estimating DNA methylation potential energy landscapes from nanopore sequencing data

Abante, J., Kambhampati, S., Feinberg, A. P., & Goutsias, J. I. (2021) · Scientific Reports · doi:10.1038/s41598-021-00781-x · Cited by 7

Neurotoxic Doses of Chronic Methamphetamine Trigger Retrotransposition of the Identifier Element in Rat Dorsal Dentate Gyrus

Moszczyńska, A., Burghardt, K. J., & Yu, D. (2017) · Genes · doi:10.3390/genes8030096 · Cited by 7

Defective modulation of LINE-1 retrotransposition by cancer-associated SAMHD1 mutants

Gao, W., Li, G., Bian, X., Rui, Y., Zhai, C., Liu, P., Su, J., Wang, H., Zhu, C., Du, Y., et al. (2019) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2019.08.155 · Cited by 7

A novel role of TRIM28 B box domain in L1 retrotransposition and ORF2p-mediated cDNA synthesis

Du, Q., Stow, E. C., LaCoste, D., Freeman, B., Baddoo, M., Shareef, A. M., Miller, K. M., & Belancio, V. P. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad247 · Cited by 7

Why does epithelia display heterogeneity? Bridging physical and biological concepts

Vishwakarma, M., & Russo, J. D. (2019) · Biophysical Reviews · doi:10.1007/s12551-019-00583-6 · Cited by 7

The information theory of aging

Vujin, A., & Dick, K. (2020) · Health Science Inquiry · doi:10.29173/hsi304 · Cited by 7

STING inhibits LINE-1 retrotransposition through sorting ORF1p to lysosomes for degradation

Huang, Y., Xu, F., Wang, L., Mei, S., Zhao, F., Wang, L., Xie, Y., Liang, W. P., Hu, Y., Gao, Z., et al. (2025) · EMBO Reports · doi:10.1038/s44319-025-00551-0 · Cited by 6

LINE-1 Locus Transcription Nucleates Oncogenic Chromatin Architecture

Lee, M., Zhang, Y., Lim, J. Y. S., Dai, T., Ye, J. S., Brecker, M., Sondhi, V., Zheng, S., Kim, Y. J., Chen, B., et al. (2026) · Cancer Discovery · doi:10.1158/2159-8290.cd-25-1085 · Cited by 6

Genetic and neuro-epigenetic effects of divergent artificial selection for feather pecking behaviour in chickens

Haas, E. N. D., Pértille, F., Kjær, J. B., Jensen, P., & Guerrero‐Bosagna, C. (2024) · BMC Genomics · doi:10.1186/s12864-024-11137-w · Cited by 6

Selective elimination of long INterspersed element-1 expressing tumour cells by targeted expression of the HSV-TK suicide gene

Chendeb, M., Schneider, R., Davidson, I., & Fadloun, A. (2017) · Oncotarget · doi:10.18632/oncotarget.16013 · Cited by 6

Intragenic L1 Insertion: One Possibility of Brain Disorder

Son, J.-H., Do, H., & Han, J. (2022) · Life · doi:10.3390/life12091425 · Cited by 6

L1 Retrotransposons Are Transcriptionally Active in Hippocampus of Rat Brain

Mukherjee, S., Sharma, D., & Upadhyaya, K. C. (2016) · Prague Medical Report · doi:10.14712/23362936.2016.4 · Cited by 6

Qualitative and Quantitative Assays of Transposition and Homologous Recombination of the Retrotransposon Tf1 in Schizosaccharomyces pombe

Sangesland, M., Atwood-Moore, A., Rai, S. K., & Levin, H. L. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3372-3_8 · Cited by 6

Cellular Localization of Engineered Human LINE-1 RNA and Proteins

Doucet, A. J., Basyuk, E. I., & Gilbert, N. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3372-3_18 · Cited by 6

GINOM: A statistical framework for assessing interval overlap of multiple genomic features

Bryner, D., Criscione, S., Leith, A., Huynh, Q. Q., Huffer, F., & Neretti, N. (2017) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1005586 · Cited by 6

Global DNA methylation (LINE-1) associated with exposure to arsenic-contaminated environment and with type of arsenical skin lesions in Thailand

Phetliap, W., Geater, A. F., Rozek, L. S., Oshikawa, S., Helmick, K., Rentschler, K. M., Yasuko, K. O. J. O., & Thaicharoen, S. (2018) · Human and Ecological Risk Assessment An International Journal · doi:10.1080/10807039.2018.1448968 · Cited by 6

Interactions among eukaryotes, retrotransposons and riboviruses: endogenous riboviral elements in eukaryotic genomes

Horie, M. (2019) · Genes & Genetic Systems · doi:10.1266/ggs.18-00049 · Cited by 6

Investigation of long interspersed element‐1 retrotransposons as potential risk factors for idiopathic temporal lobe epilepsy

Doyle, G. A. R., Reiner, B. C., Crist, R. C., Rao, A. M., Ojeah, N. S., Arauco‐Shapiro, G., Levinson, R. N., Shah, L. D., Sperling, M. R., Ferraro, T. N., et al. (2021) · Epilepsia · doi:10.1111/epi.16897 · Cited by 6

Cell-host, LINE and environment

Re, B. D., & Giorgi, G. (2013) · Mobile Genetic Elements · doi:10.4161/mge.24040 · Cited by 6

Characterization of LINE-1 transposons in a human genome at allelic resolutionPreprint

Yang, L., Metzger, G. A., & McLaughlin, R. N. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/594200 · Cited by 6

Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder

Garvin, M. R., & Kainer, D. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1553575 · Cited by 5

Integrated small and long RNA sequencing reveals piRNA mediated transposon repression during human oogenesis

Zhang, F., Zhang, H., xiao, Y., Liu, M., Ren, A., Liu, S., & Wu, L. (2026) · Nature Communications · doi:10.1038/s41467-026-70296-4 · Cited by 5

LINE-1 insertion intermediates recombine with one another or with DNA breaks to form genome rearrangements

Mendez‐Dorantes, C., Kalinowski, J. C., Burn, A., Schofield, P., Law, C., Işık, E., & Burns, K. H. (2026) · Nature Communications · doi:10.1038/s41467-026-76308-7 · Cited by 5

Fanzors, a family of eukaryotic RNA ‐guided DNA endonucleases

Jiang, K., Gootenberg, J. S., & Abudayyeh, O. O. (2025) · FEBS Letters · doi:10.1002/1873-3468.70038 · Cited by 5

The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes

Richardson, S. R., Doucet, A. J., Kopera, H. C., Moldovan, J. B., Garcia-Perez, J. L., & Moran, J. V. (2015) · Microbiology Spectrum · doi:10.1128/microbiolspec.mdna3-0061-2014 · Cited by 338

The Impact of LINE-1 Retro transposition on the Human Genome

Hulme, A. E., Kulpa, D. A., Garcia-Perez, J. L., & Moran, J. V. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-039-3_3 · Cited by 10

LINE‐1 Retrotransposition: Impact on Genome Stabilityand Diversity and Human Disease

Prak, N. L., & Haoudi, A. (2006) · BioMed Research International · doi:10.1155/jbb/2006/37049 · Cited by 7

Roles for retrotransposon insertions in human disease

Hancks, D. C., & Kazazian, H. H. (2016) · Mobile DNA · doi:10.1186/s13100-016-0065-9 · Cited by 670

Mobile Elements in the Human Genome: Implications for Disease

Chénais, B. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024377