Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
Abstract
Molecular medicine began with Pauling's seminal work, which recognized sickle-cell anemia as a molecular disease, and with Ingram's demonstration of a specific chemical difference between the hemoglobins of normal and sickled human red blood cells. During the four decades that followed, investigations have focused on the gene--how mutations specifically alter DNA and how these changes affect the structure and expression of encoded proteins. Recently, however, the advances of the human genome project and the completion of total genome sequences for yeast and many bacterial species, have enabled investigators to view genetic information in the context of the entire genome. As a result, we recognize that the mechanisms for some genetic diseases are best understood at a genomic level. The evolution of the mammalian genome has resulted in the duplication of genes, gene segments and repeat gene clusters. This genome architecture provides substrates for homologous recombination between nonsyntenic regions of chromosomes. Such events can result in DNA rearrangements that cause disease.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The segmental-duplication-flanked de novo CNVs most likely arose by nonallelic homologous recombination.
“This class of CNV most likely occurred by nonallelic homologous recombination (NAHR) (Lupski, 1998).”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Lupski, 1998
Many CNV loci strongly implicated in human disease are hotspots for non-allelic homologous recombination, a process usually mediated by flanking segmental duplications.
“Many CNV loci that have been strongly implicated in human disease are hotspots for non-allelic homologous recombination (NAHR), a process which in most cases is mediated by flanking segmental duplications 21.”
From Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2017) · cites this paper as [21]
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
Identification and characterization of a spinal muscular atrophy-determining gene
Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Bénichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,995 · see citing works
Lifton, R. P., Dluhy, R. G., Powers, M., Rich, G. M., Cook, S., Ulick, S., & Lalouel, J.-M. (1992) · Nature · doi:10.1038/355262a0 · Cited by 1,158 · see citing works
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
Simon, D. B., Bindra, R. S., Mansfield, T. A., Nelson-Williams, C. J., Mendonça, É., Stone, R., Schurman, S. J., Nayır, A., Alpay, H., Bakkaloğlu, A., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-171 · Cited by 848 · see citing works
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Lakich, D., Kazazian, H. H., Antonarakis, S. E., & Gitschier, J. M. (1993) · Nature Genetics · doi:10.1038/ng1193-236 · Cited by 786 · see citing works
Molecular Genetics of Inherited Variation in Human Color Vision
Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B., & Hogness, D. S. (1986) · Science · doi:10.1126/science.3485310 · Cited by 783 · see citing works
Rayssiguier, C., Thaler, D. S., & Radman, M. (1989) · Nature · doi:10.1038/342396a0 · Cited by 724 · see citing works
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
Wijmenga, C., Hewitt, J., Sandkuijl, L. A., Clark, L. N., Wright, T. J., Dauwerse, H. G., Gruter, A.-M., Hofker, M. H., Moerer, P., Williamson, R., et al. (1992) · Nature Genetics · doi:10.1038/ng0992-26 · Cited by 689 · see citing works
HOMOLOGOUS RECOMBINATION IN ESCHERICHIA COLI: DEPENDENCE ON SUBSTRATE LENGTH AND HOMOLOGY
Shen, P., & Huang, H. V. (1986) · Genetics · doi:10.1093/genetics/112.3.441 · Cited by 553 · see citing works
Lauer, J., Shen, C.-K. J., & Maniatis, T. (1980) · Cell · doi:10.1016/0092-8674(80)90240-8 · Cited by 532 · see citing works
Nelis, E., & Broeckhoven, C. V. (1996) · European Journal of Human Genetics · doi:10.1159/000472166 · Cited by 431 · see citing works
Chen, K., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A. C., Lee, C. C., & Lupski, J. R. (1997) · Nature Genetics · doi:10.1038/ng1097-154 · Cited by 387 · see citing works
Self-citationPentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., & Lupski, J. R. (1992) · Nature Genetics · doi:10.1038/ng1292-292 · Cited by 386 · see citing works
Self-citationGreenberg, F., Guzzetta, de Oca-Luna, R. M., Magenis, R. E., Smith, A. C., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski (1991) · PubMed · Cited by 340 · see citing works
De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
Melki, J., Lefebvre, S., Bürglen, L., et al. (1994) · Science · doi:10.1126/science.7910982 · Cited by 323 · see citing works
Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. I., & Lupski, J. R. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.223 · Cited by 311 · see citing works
Self-citationMolecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria
Vulić, M., Dionísio, F., Taddéi, F., et al. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.18.9763 · Cited by 296 · see citing works
Reiter, L. T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D. M., Gibbs, R. A., & Lupski, J. R. (1996) · Nature Genetics · doi:10.1038/ng0396-288 · Cited by 295 · see citing works
Self-citationMolecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
Morrow, B. E., Goldberg, R. B., Carlson, C., et al. (1995) · PubMed · Cited by 245 · see citing works
Jurado, L. A. P., Peoples, R., Kaplan, P. B., Hamel, B. C. J., & Francke, U. (1996) · PubMed Central · Cited by 231 · see citing works
Wise, C. A., Garcia, C. A., Davis, S. N., Heju, Z., Pentao, L., Patel, P. I., & Lupski, J. R. (1993) · PubMed · Cited by 191 · see citing works
Self-citationChristian, S. L., Robinson, W. P., Huang, B., Mutirangura, A., Line, M. R., Nakao, M., Surti, U., Chakravarti, A., & Ledbetter, D. H. (1995) · Europe PMC (PubMed Central) · Cited by 188 · see citing works
Jurado, L. P. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.325 · Cited by 178 · see citing works
Rosslter, J. P., Young, M., Kimberland, M. L., Hutter, P., Ketterling, R. P., Gitschier, J. M., Horst, J., Morris, M. A., Schaid, D. J., de Moerloose, P., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.7.1035 · Cited by 178 · see citing works
Reiter, L. T., Hastings, P. J., Nelis, E., Jonghe, P. D., Broeckhoven, C. V., & Lupski, J. R. (1998) · The American Journal of Human Genetics · doi:10.1086/301827 · Cited by 177 · see citing works
Self-citationBondeson, M.-L., Dahl, N., Malmgren, H., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.4.615 · Cited by 177 · see citing works
Yen, P. H., Li, X., Tsai, S., Johnson, C., Mohandas, T. K., & Shapiro, L. J. (1990) · Cell · doi:10.1016/0092-8674(90)90472-q · Cited by 165 · see citing works
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
Small, K. M., Iber, J. C., & Warren, S. T. (1997) · Nature Genetics · doi:10.1038/ng0597-96 · Cited by 163 · see citing works
A novel α-globin gene arrangement in man
Higgs, D. R., Old, J. M., Pressley, L., Clegg, J. B., & Weatherall, D. J. (1980) · Nature · doi:10.1038/284632a0 · Cited by 152 · see citing works
Kornreich, R., Bishop, D. F., & Desnick, R. J. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)38851-9 · Cited by 140 · see citing works
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
Konrad, M. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.3.367 · Cited by 138 · see citing works
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.
Urbán, Z., Helms, C. A., Fekete, G., Csiszár, K., Bonnet, D., Münnich, A., Donis-Keller, H., & Boyd, C. D. (1996) · PubMed Central · Cited by 137 · see citing works
Naylor, J. A., Buck, D., Green, P., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.7.1217 · Cited by 137 · see citing works
Bacterial genomes : physical structure and analysis
de Bruijn, F. J., Lupski, J. R., & Weinstock, G. M. (1998) · Kluwer Academic Publishers eBooks · Cited by 129 · see citing works
Self-citationMolecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Juyal, R. C., Figuera, L. E., Hauge, X., Elsea, S. H., Lupski, J. R., Greenberg, F., Baldini, A., & Patel, P. I. (1996) · PubMed Central · Cited by 128 · see citing works
Self-citationOlds, R. J., Lane, D. A., Chowdhury, V., et al. (1993) · Biochemistry · doi:10.1021/bi00067a008 · Cited by 128 · see citing works
Palau, F., Löfgren, A., Jonghe, P. D., Bort, S., Nelis, E., Sevilla, T., Martin, J., Vilchez, J. J., Prieto, F., & Broeckhoven, C. V. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2031 · Cited by 128 · see citing works
Zimran, A., Sorge, J. A., Gross, E. A., et al. (1990) · Journal of Clinical Investigation · doi:10.1172/jci114415 · Cited by 123 · see citing works
A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
Inoue, K., Osaka, H., Sugiyama, N., Kawanishi, C., Onishi, H., Nezu, A., Kimura, K., Yamada, Y., & Kosaka, K. (1996) · PubMed Central · Cited by 121 · see citing works
Dutly, F. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.1893 · Cited by 121 · see citing works
Lindsay, E. A., Greenberg, F., Shaffer, L. G., Shapira, S. K., Scambler, P. J., & Baldini, A. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560216 · Cited by 118 · see citing works
Lopes, J., Ravisé, N., Vandenberghe, A., Palau, F., Ionasescu, V. V., Mayer, M., Lévy, N., Wood, N. W., Tachi, N., Bouché, P., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.141 · Cited by 118 · see citing works
Molecular basis of human growth hormone gene deletions.
Vnencak‐Jones, C. L., Phillips, J. A., Chen, E. Y., et al. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.15.5615 · Cited by 94 · see citing works
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
Halford, S., Lindsay, E., Nayudu, M., Carey, A. H., Baldini, A., & Scambler, P. J. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.2.191 · Cited by 89 · see citing works
Reiter, L. T. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.9.1595 · Cited by 88 · see citing works
Kiyosawa, H. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.6.745 · Cited by 86 · see citing works
Carrozzo, R., Rossi, E. G., Christian, S. L., Kittikamron, K., Livieri, C., Corrias, A., Pucci, L., Fois, A., Bosio, L., Simi, P., et al. (1997) · The American Journal of Human Genetics · doi:10.1086/513907 · Cited by 81 · see citing works
Homology requirements for unequal crossing over in humans.
Metzenberg, A. B., Wurzer, G., Huisman, T. H. J., et al. (1991) · Genetics · doi:10.1093/genetics/128.1.143 · Cited by 81 · see citing works
Molecular and phenotypic variation in patients with severe Hunter syndrome
Timms, K. M., Bondeson, M.-L., Ansari-Lari, M. A., et al. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.3.479 · Cited by 80 · see citing works
Robinson, W. P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D., & Schinzel, A. (1996) · Genomics · doi:10.1006/geno.1996.0237 · Cited by 78 · see citing works
Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats
Vnencak‐Jones, C. L., & Phillips, J. A. (1990) · Science · doi:10.1126/science.1980158 · Cited by 77 · see citing works
Osborne, L. R., Herbrick, J.-A., Greavette, T., Heng, H. H., Tsui, L., & Scherer, S. W. (1997) · Genomics · doi:10.1006/geno.1997.4923 · Cited by 76 · see citing works
Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms
Lupski, J. R. (1998) · Molecular Medicine · doi:10.1007/bf03401724 · Cited by 75 · see citing works
Self-citationSteen, V. M., Molven, A., Aarskog, N. K., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2251 · Cited by 75 · see citing works
Pousi, B., Hautala, T., Heikkinen, J., PAJUNEN, L., Kivirikko, K. I., & Myllylä, R. (1994) · PubMed Central · Cited by 73 · see citing works
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Fermer, M. L., Sundvall, M., Johnsen, E., et al. (1997) · PubMed · Cited by 66 · see citing works
Ballabio, A., Bardoni, B., Guioli, S., Basler, E., & Camerino, G. (1990) · Genomics · doi:10.1016/0888-7543(90)90281-x · Cited by 65 · see citing works
Chromosomal duplications in bacteria, fruit flies, and humans.
Lupski, J. R., Roth, J. R., & Weinstock, G. M. (1996) · PubMed Central · Cited by 63 · see citing works
Self-citationAnalysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP
Kiyosawa, H., Lensch, M. W., & Chance, P. F. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2327 · Cited by 61 · see citing works
Sex–dependent rearrangements resulting in CMT1A and HNPP
Lopes, J., Vandenberghe, A., Tardieu, S., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-136 · Cited by 55 · see citing works
Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Lagerstedt‐Robinson, K. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.627 · Cited by 55 · see citing works
Lopes, J., Leguern, É., Gouider, R., et al. (1996) · PubMed · Cited by 54 · see citing works
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Timmerman, V., Rautenstrauß, B., Reiter, L. T., et al. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.1.43 · Cited by 53 · see citing works
Donohoue, P. A., Jospe, N., Migeon, C. J., & Dop, C. V. (1989) · Genomics · doi:10.1016/0888-7543(89)90002-5 · Cited by 50 · see citing works
Li, X., Yen, P. H., & Shapiro, L. J. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.5.1117 · Cited by 48 · see citing works
Rüdiger, N., Heinsvig, E.-M., Hansen, F. A., et al. (1991) · Clinical Genetics · doi:10.1111/j.1399-0004.1991.tb03057.x · Cited by 45 · see citing works
Marcus, S., Hellgren, D., Lambert, B., et al. (1993) · Human Genetics · doi:10.1007/bf00217444 · Cited by 45 · see citing works
Guzzetta, V., Franco, B., Trask, B. J., et al. (1992) · Genomics · doi:10.1016/0888-7543(92)90124-b · Cited by 40 · see citing works
Charcot-Marie-Tooth Disease: A Gene-Dosage Effect
Lupski, J. R. (1997) · Hospital Practice · doi:10.1080/21548331.1997.11443485 · Cited by 35 · see citing works
Self-citationEmerin Deletions Occurring on Both Xq28 Inversion Backgrounds
Small, K. M., & Warren, S. T. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.135 · Cited by 31 · see citing works
Refinement of the spinal muscular atrophy locus by genetic and physical mapping.
Wang, C. H., Kleyn, P. W., Vitale, E., et al. (1995) · PubMed · Cited by 27 · see citing works
Some psychosocial aspects of nonlethal chondrodysplasias: III. Self-esteem in children and adults.
Hunter, A. G. W. (1998) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(19980616)78:1 · Cited by 6 · see citing works
Weinstock, G. M., & Lupski, J. R. (1998) · Springer eBooks · doi:10.1007/978-1-4615-6369-3_11 · Cited by 4 · see citing works
Self-citationGénin, E., BELLIS, G., & Clerget‐Darpoux, F. (1997) · Annals of Human Genetics · doi:10.1017/s0003480096005970 · Cited by 2 · see citing works
Further delineation of the acro-renal-ocular syndrome
(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1 · see citing works
McCabe, E. R. B., Guo, W., & Burris, T. P. (1996) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/(sici)1098-2779(1996)2:3 · Cited by 1 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316 · see citing works
Self-citationStructural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201 · see citing works
Self-citationMapping copy number variation by population-scale genome sequencing
1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140 · see citing works
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207 · see citing works
Self-citationContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058 · see citing works
Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914 · see citing works
Self-citationA copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
Hastings, P. J., Ira, G., & Lupski, J. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000327 · Cited by 818 · see citing works
Self-citationSharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658 · see citing works
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
Nicholls, R. D., & Knepper, J. L. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.153 · Cited by 625 · see citing works
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605 · see citing works
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
Self-citationWhole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544 · see citing works
Annotating non-coding regions of the genome.
Alexander, R. P., Fang, G., Rozowsky, J., Snyder, M., & Gerstein, M. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2814 · Cited by 464 · see citing works
Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325 · see citing works
“(D) UCSC genome browser tracks of known genes are shown to scale with a tra by nonallelic homologous recombination (NAHR) (Lupski, 1998).”
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E. (2008) · Nature Genetics · doi:10.1038/ng.2007.40 · Cited by 320 · see citing works
VI. Genome structure and cognitive map of Williams syndrome
Korenberg, J. R., Chen, X.-N., Hirota, H., Lai, Z., Bellugi, U., Burian, D., Roe, B., & Matsuoka, R. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900562002 · Cited by 285 · see citing works
Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works
Self-citationSun, C., Skaletsky, H., Rozen, S., Gromoll, J., Nieschlag, E., Oates, R., & Page, D. C. (2000) · Human Molecular Genetics · doi:10.1093/oxfordjournals.hmg.a018920 · Cited by 247 · see citing works
Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241 · see citing works
Evolutionary toggling of the MAPT 17q21.31 inversion region
Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.193 · Cited by 227 · see citing works
Rosenfeld, J. A., Coppinger, J., Bejjani, B. A., Girirajan, S., Eichler, E. E., Shaffer, L. G., & Ballif, B. C. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9037-4 · Cited by 207 · see citing works
Genomic copy number variation, human health, and disease
Wain, L. V., Armour, J. A., & Tobin, M. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60249-x · Cited by 196 · see citing works
Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3180986192 · Cited by 193 · see citing works
Self-citationAnalysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia
Rees, E., Kendall, K., Pardiñas, A. F., Legge, S. E., Pocklington, A., Escott-Price, V., MacCabe, J. H., Collier, D. A., Holmans, P., O’Donovan, M. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.1831 · Cited by 162 · see citing works
CNVs in neuropsychiatric disorders
Kirov, G. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv253 · Cited by 159 · see citing works
Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., et al. (2010) · Human Mutation · doi:10.1002/humu.21284 · Cited by 134 · see citing works
Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061002 · Cited by 108 · see citing works
Self-citationCopy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.006 · Cited by 104 · see citing works
Kerzendorfer, C., & O’Driscoll, M. (2009) · DNA Repair · doi:10.1016/j.dnarep.2009.04.018 · Cited by 97 · see citing works
- Authors
- Lupski, J. R.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Lupski, James R
- ORCID
- Lupski, James R
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 1998-10
- Volume
- 14
- Issue
- 10
- Pages
- 417-422
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W1997647094
- Cited by
- 908
- References
- 76
- Citations by year
- 2026: 8 · 2025: 12 · 2024: 25 · 2023: 19 · 2022: 24 · 2021: 18 · 2020: 21 · 2019: 22 · 2018: 13 · 2017: 20 · 2016: 24 · 2015: 40 · 2014: 33 · 2013: 42 · 2012: 41
- FWCI
- 4.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (M01RR000188)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 24064, P30HD024064, HD94021)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- genomic disorders, DNA rearrangement, structural variants, homologous recombination, gene duplication, mammalian genome evolution, human disease, sickle cell disease, molecular medicine
- MeSH terms
- Chromosome Aberrations, Humans, Gene Rearrangement, Genetic Diseases, Inborn
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