Alu Repeats and Human Disease

Mobile elements inserted in the distant past have taken on important functions

Britten, R. J. (1997) · Gene · doi:10.1016/s0378-1119(97)00399-5 · Cited by 198

DNA transposons and the evolution of eukaryotic genomes.

Feschotte, C., & Pritham, E. J. (2007) · Annual Review of Genetics · doi:10.1146/annurev.genet.40.110405.090448 · Cited by 1,218

Interspersed repeats and other mementos of transposable elements in mammalian genomes

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Mechanisms underlying structural variant formation in genomic disorders

Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774

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

Rapid DNA methylation changes after exposure to traffic particles

Baccarelli, A., Wright, R. O., Bollati, V., Tarantini, L., Litonjua, A. A., Suh, H. H., Zanobetti, A., Sparrow, D., Vokonas, P. S., & Schwartz, J. (2009) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200807-1097oc · Cited by 653

Active human retrotransposons: variation and disease

Hancks, D. C., & Kazazian, H. H. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.006 · Cited by 592

The Human LINE-1 Retrotransposon Creates DNA Double-strand Breaks

Gasior, S. L., Wakeman, T. P., Xu, B., & Deininger, P. L. (2006) · Journal of Molecular Biology · doi:10.1016/j.jmb.2006.01.089 · Cited by 519

Genetic Steps of Mammalian Homologous Repair with Distinct Mutagenic Consequences

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LEDGF/p75 functions downstream from preintegration complex formation to effect gene-specific HIV-1 integration

Shun, M.-C., Raghavendra, N. K., Vandegraaff, N., Daigle, J. E., Hughes, S., Kellam, P., Cherepanov, P., & Engelman, A. (2007) · Genes & Development · doi:10.1101/gad.1565107 · Cited by 467

Transposable elements are found in a large number of human protein-coding genes

Nekrutenko, A., & Li, W.-H. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02445-3 · Cited by 430

Transposable elements: genome innovation, chromosome diversity, and centromere conflict

Klein, S. J., & O’Neill, R. J. (2018) · Chromosome Research · doi:10.1007/s10577-017-9569-5 · Cited by 223

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Luciani, J. J., de Mas, P., Depetris, D., Mignon-Ravix, C., Bottani, A., Prieur, M., Jonveaux, P., Philippe, A., Bourrouillou, G., de Martinville, B., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.9.690 · Cited by 170

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Antonell, A., Del Campo, M., Magano, L. F., Kaufmann, L., Martínez de la Iglesia, J., Gallastegui, F., Flores, R., Schweigmann, U., Fauth, C., Kotzot, D., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.071712 · Cited by 163

Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica

Gentles, A. J., Wakefield, M. J., Kohany, O., Gu, W., Batzer, M. A., Pollock, D. D., & Jurka, J. (2007) · Genome Research · doi:10.1101/gr.6070707 · Cited by 156

LINE dancing in the human genome: transposable elements and disease

Belancio, V. P., Deininger, P. L., & Roy-Engel, A. M. (2009) · Genome Medicine · doi:10.1186/gm97 · Cited by 146

Human Alu element retrotransposition induced by genotoxic stress

Hagan, C. R., Sheffield, R. F., & Rudin, C. M. (2003) · Nature Genetics · doi:10.1038/ng1259 · Cited by 137

Differential Effects of Human Immunodeficiency Virus Type 1 Capsid and Cellular Factors Nucleoporin 153 and LEDGF/p75 on the Efficiency and Specificity of Viral DNA Integration

Koh, Y., Wu, X., Ferris, A. L., Matreyek, K. A., Smith, S. J., Lee, K., KewalRamani, V. N., Hughes, S. H., & Engelman, A. (2013) · Journal of Virology · doi:10.1128/jvi.01148-12 · Cited by 122

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation · doi:10.1002/humu.22037 · Cited by 107

ERK1/2 activation is a therapeutic target in age-related macular degeneration

Dridi, S., Hirano, Y., Tarallo, V., Kim, Y., Fowler, B. J., Ambati, B. K., Bogdanovich, S., Chiodo, V. A., Hauswirth, W. W., Kugel, J. F., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1206494109 · Cited by 105

A LINE-1 component to human aging: Do LINE elements exact a longevity cost for evolutionary advantage?

St. Laurent, G., Hammell, N., & McCaffrey, T. A. (2010) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2010.03.008 · Cited by 68

Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses

Polavarapu, N., Bowen, N. J., & McDonald, J. F. (2006) · Genome Biology · doi:10.1186/gb-2006-7-6-r51 · Cited by 60

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)

Staaf, J., Törngren, T., Rambech, E., Johansson, U., Persson, C., Sellberg, G., Tellhed, L., Nilbert, M., & Borg, Å. (2008) · Human Mutation · doi:10.1002/humu.20678 · Cited by 44

SINEs, evolution and genome structure in the opossum

Gu, W., Ray, D. A., Walker, J. A., Barnes, E. W., Gentles, A. J., Samollow, P. B., Jurka, J., Batzer, M. A., & Pollock, D. D. (2007) · Gene · doi:10.1016/j.gene.2007.02.028 · Cited by 18