BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 2009;41:849-853. [PMID: 19543269 DOI: 10.1038/ng.399] [Cited by in Crossref: 302] [Cited by in F6Publishing: 290] [Article Influence: 23.2] [Reference Citation Analysis]
Number Citing Articles
1 Kottemann MC, Conti BA, Lach FP, Smogorzewska A. Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity. Mol Cell 2018;69:24-35.e5. [PMID: 29290612 DOI: 10.1016/j.molcel.2017.11.035] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 4.8] [Reference Citation Analysis]
2 Buljan M, Frankish A, Bateman A. Quantifying the mechanisms of domain gain in animal proteins. Genome Biol 2010;11:R74. [PMID: 20633280 DOI: 10.1186/gb-2010-11-7-r74] [Cited by in Crossref: 68] [Cited by in F6Publishing: 66] [Article Influence: 5.7] [Reference Citation Analysis]
3 Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 2015;24:4061-77. [PMID: 25908615 DOI: 10.1093/hmg/ddv146] [Cited by in Crossref: 55] [Cited by in F6Publishing: 50] [Article Influence: 7.9] [Reference Citation Analysis]
4 Simmons AD, Carvalho CM, Lupski JR. What have studies of genomic disorders taught us about our genome? Methods Mol Biol 2012;838:1-27. [PMID: 22228005 DOI: 10.1007/978-1-61779-507-7_1] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.1] [Reference Citation Analysis]
5 Branzei D. Ubiquitin family modifications and template switching. FEBS Lett 2011;585:2810-7. [PMID: 21539841 DOI: 10.1016/j.febslet.2011.04.053] [Cited by in Crossref: 58] [Cited by in F6Publishing: 55] [Article Influence: 5.3] [Reference Citation Analysis]
6 Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature. Gene 2013;531:502-5. [PMID: 24035902 DOI: 10.1016/j.gene.2013.09.006] [Cited by in Crossref: 7] [Article Influence: 0.8] [Reference Citation Analysis]
7 Chen JM, Férec C, Cooper DN. Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutat Res 2012;750:52-9. [PMID: 22100908 DOI: 10.1016/j.mrrev.2011.10.002] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 2.2] [Reference Citation Analysis]
8 Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 2014;371:2363-74. [PMID: 25470569 DOI: 10.1056/NEJMoa1408028] [Cited by in Crossref: 192] [Cited by in F6Publishing: 83] [Article Influence: 24.0] [Reference Citation Analysis]
9 Tucker EJ, Mimaki M, Compton AG, Mckenzie M, Ryan MT, Thorburn DR. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 2012;33:411-8. [DOI: 10.1002/humu.21654] [Cited by in Crossref: 44] [Cited by in F6Publishing: 42] [Article Influence: 4.0] [Reference Citation Analysis]
10 Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A 2021;185:3294-313. [PMID: 34405553 DOI: 10.1002/ajmg.a.62434] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
11 Kasparek TR, Humphrey TC. DNA double-strand break repair pathways, chromosomal rearrangements and cancer. Semin Cell Dev Biol 2011;22:886-97. [PMID: 22027614 DOI: 10.1016/j.semcdb.2011.10.007] [Cited by in Crossref: 81] [Cited by in F6Publishing: 73] [Article Influence: 7.4] [Reference Citation Analysis]
12 Du R, Lu C, Jiang Z, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L. Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. J Hum Genet. 2012;57:545-551. [PMID: 22673690 DOI: 10.1038/jhg.2012.66] [Cited by in Crossref: 47] [Cited by in F6Publishing: 48] [Article Influence: 4.7] [Reference Citation Analysis]
13 Feuk L. Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2010;2:11. [PMID: 20156332 DOI: 10.1186/gm132] [Cited by in Crossref: 44] [Cited by in F6Publishing: 39] [Article Influence: 3.7] [Reference Citation Analysis]
14 Lauer S, Avecilla G, Spealman P, Sethia G, Brandt N, Levy SF, Gresham D. Single-cell copy number variant detection reveals the dynamics and diversity of adaptation. PLoS Biol 2018;16:e3000069. [PMID: 30562346 DOI: 10.1371/journal.pbio.3000069] [Cited by in Crossref: 37] [Cited by in F6Publishing: 26] [Article Influence: 9.3] [Reference Citation Analysis]
15 Guirouilh-Barbat J, Gelot C, Xie A, Dardillac E, Scully R, Lopez BS. 53BP1 Protects against CtIP-Dependent Capture of Ectopic Chromosomal Sequences at the Junction of Distant Double-Strand Breaks. PLoS Genet 2016;12:e1006230. [PMID: 27798638 DOI: 10.1371/journal.pgen.1006230] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]
16 Halliwell JA, Baker D, Judge K, Quail MA, Oliver K, Betteridge E, Skelton J, Andrews PW, Barbaric I. Nanopore Sequencing Indicates That Tandem Amplification of Chromosome 20q11.21 in Human Pluripotent Stem Cells Is Driven by Break-Induced Replication. Stem Cells Dev 2021;30:578-86. [PMID: 33757297 DOI: 10.1089/scd.2021.0013] [Reference Citation Analysis]
17 Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Replicative mechanisms for CNV formation are error prone. Nat Genet 2013;45:1319-26. [PMID: 24056715 DOI: 10.1038/ng.2768] [Cited by in Crossref: 94] [Cited by in F6Publishing: 86] [Article Influence: 10.4] [Reference Citation Analysis]
18 Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications. Hum Genet 2020;139:1417-27. [PMID: 32488466 DOI: 10.1007/s00439-020-02186-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
19 Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics 2015;16:214. [PMID: 25887218 DOI: 10.1186/s12864-015-1370-2] [Cited by in Crossref: 47] [Cited by in F6Publishing: 38] [Article Influence: 6.7] [Reference Citation Analysis]
20 Hoeffding LKE, Hansen T, Ingason A, Doung L, Thygesen JH, Møller RS, Tommerup N, Kirov G, Rujescu D, Larsen LA, Werge T. Sequence analysis of 17 NRXN1 deletions. Am J Med Genet 2014;165:52-61. [DOI: 10.1002/ajmg.b.32204] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.1] [Reference Citation Analysis]
21 Prado F. Genetic instability is prevented by Mrc1-dependent spatio-temporal separation of replicative and repair activities of homologous recombination: homologous recombination tolerates replicative stress by Mrc1-regulated replication and repair activities operating at S and G2 in distinct subnuclear compartments. Bioessays 2014;36:451-62. [PMID: 24615940 DOI: 10.1002/bies.201300161] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
22 Lodish MB, Trivellin G, Stratakis CA. Pituitary gigantism: update on molecular biology and management. Curr Opin Endocrinol Diabetes Obes 2016;23:72-80. [PMID: 26574647 DOI: 10.1097/MED.0000000000000212] [Cited by in Crossref: 13] [Cited by in F6Publishing: 4] [Article Influence: 2.2] [Reference Citation Analysis]
23 Ehli EA, Abdellaoui A, Hu Y, Hottenga JJ, Kattenberg M, van Beijsterveldt T, Bartels M, Althoff RR, Xiao X, Scheet P, de Geus EJ, Hudziak JJ, Boomsma DI, Davies GE. De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems. Eur J Hum Genet 2012;20:1037-43. [PMID: 22490988 DOI: 10.1038/ejhg.2012.49] [Cited by in Crossref: 43] [Cited by in F6Publishing: 36] [Article Influence: 4.3] [Reference Citation Analysis]
24 Yalcin B, Adams DJ, Flint J, Keane TM. Next-generation sequencing of experimental mouse strains. Mamm Genome 2012;23:490-8. [PMID: 22772437 DOI: 10.1007/s00335-012-9402-6] [Cited by in Crossref: 45] [Cited by in F6Publishing: 41] [Article Influence: 4.5] [Reference Citation Analysis]
25 Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet 2010;78:299-309. [PMID: 20507342 DOI: 10.1111/j.1399-0004.2010.01445.x] [Cited by in Crossref: 35] [Cited by in F6Publishing: 29] [Article Influence: 3.2] [Reference Citation Analysis]
26 Wang WJ, Li LY, Cui JW. Chromosome structural variation in tumorigenesis: mechanisms of formation and carcinogenesis. Epigenetics Chromatin 2020;13:49. [PMID: 33168103 DOI: 10.1186/s13072-020-00371-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
27 Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet 2016;135:1161-74. [PMID: 27386852 DOI: 10.1007/s00439-016-1703-5] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
28 Bickhart DM, Liu GE. The challenges and importance of structural variation detection in livestock. Front Genet 2014;5:37. [PMID: 24600474 DOI: 10.3389/fgene.2014.00037] [Cited by in Crossref: 58] [Cited by in F6Publishing: 47] [Article Influence: 7.3] [Reference Citation Analysis]
29 Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK. Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet 2014;10:e1004139. [PMID: 24497845 DOI: 10.1371/journal.pgen.1004139] [Cited by in Crossref: 33] [Cited by in F6Publishing: 32] [Article Influence: 4.1] [Reference Citation Analysis]
30 Hérault Y, Duchon A, Maréchal D, Raveau M, Pereira PL, Dalloneau E, Brault V. Controlled somatic and germline copy number variation in the mouse model. Curr Genomics 2010;11:470-80. [PMID: 21358991 DOI: 10.2174/138920210793176038] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
31 Chen C, Ma H, Zhang F, Chen L, Xing X, Wang S, Zhang X, Luo Y. Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. PLoS One 2014;9:e108038. [PMID: 25244321 DOI: 10.1371/journal.pone.0108038] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.3] [Reference Citation Analysis]
32 Neumann R, Lawson VE, Jeffreys AJ. Dynamics and processes of copy number instability in human gamma-globin genes. Proc Natl Acad Sci U S A 2010;107:8304-9. [PMID: 20404158 DOI: 10.1073/pnas.1003634107] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 1.2] [Reference Citation Analysis]
33 Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res 2012;22:25-34. [PMID: 22090376 DOI: 10.1101/gr.123463.111] [Cited by in Crossref: 37] [Cited by in F6Publishing: 30] [Article Influence: 3.4] [Reference Citation Analysis]
34 Vincent-Chong VK, Anwar A, Karen-Ng LP, Cheong SC, Yang YH, Pradeep PJ, Rahman ZA, Ismail SM, Zaini ZM, Prepageran N, Kallarakkal TG, Ramanathan A, Mohayadi NA, Rosli NS, Mustafa WM, Abraham MT, Tay KK, Zain RB. Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9. PLoS One 2013;8:e54705. [PMID: 23405089 DOI: 10.1371/journal.pone.0054705] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
35 Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012;148:1223-1241. [PMID: 22424231 DOI: 10.1016/j.cell.2012.02.039] [Cited by in Crossref: 580] [Cited by in F6Publishing: 485] [Article Influence: 58.0] [Reference Citation Analysis]
36 Geng C, Tong Y, Zhang S, Ling C, Wu X, Wang D, Dai Y. Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing. Front Genet 2021;12:638220. [PMID: 34211494 DOI: 10.3389/fgene.2021.638220] [Reference Citation Analysis]
37 Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L. Decoding NF1 Intragenic Copy-Number Variations. Am J Hum Genet 2015;97:238-49. [PMID: 26189818 DOI: 10.1016/j.ajhg.2015.06.002] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 2.3] [Reference Citation Analysis]
38 Liu G, Ma D, Cheng J, Zhang J, Luo C, Sun Y, Hu P, Wang Y, Jiang T, Xu Z. Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. BMC Med Genet 2018;19:61. [PMID: 29649982 DOI: 10.1186/s12881-018-0567-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
39 Lupski JR. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends Genet 2022:S0168-9525(22)00057-9. [PMID: 35450748 DOI: 10.1016/j.tig.2022.03.001] [Reference Citation Analysis]
40 de Pagter MS, Kloosterman WP. The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. Recent Results Cancer Res 2015;200:165-93. [PMID: 26376877 DOI: 10.1007/978-3-319-20291-4_8] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
41 Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol 2017;18:36. [PMID: 28260531 DOI: 10.1186/s13059-017-1158-6] [Cited by in Crossref: 103] [Cited by in F6Publishing: 84] [Article Influence: 20.6] [Reference Citation Analysis]
42 Baskin B, Kalia LV, Banwell BL, Ray PN, Yoon G. Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism. Mov Disord 2017;32:1792-4. [PMID: 29082553 DOI: 10.1002/mds.27188] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
43 Carvalho CM, Zhang F, Lupski JR. Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A 2010;107 Suppl 1:1765-71. [PMID: 20080665 DOI: 10.1073/pnas.0906222107] [Cited by in Crossref: 45] [Cited by in F6Publishing: 42] [Article Influence: 3.8] [Reference Citation Analysis]
44 Phillips M, Babu JR, Wang X, Geetha T. DNA copy number and structural variation (CNV) contributions to adult and childhood obesity. Biochem Soc Trans 2020;48:1819-28. [PMID: 32726412 DOI: 10.1042/BST20200556] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
45 Ramsden DA, Carvajal-Garcia J, Gupta GP. Mechanism, cellular functions and cancer roles of polymerase-theta-mediated DNA end joining. Nat Rev Mol Cell Biol 2021. [PMID: 34522048 DOI: 10.1038/s41580-021-00405-2] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Hu Z, Zhu D, Wang W, Li W, Jia W, Zeng X, Ding W, Yu L, Wang X, Wang L, Shen H, Zhang C, Liu H, Liu X, Zhao Y, Fang X, Li S, Chen W, Tang T, Fu A, Wang Z, Chen G, Gao Q, Li S, Xi L, Wang C, Liao S, Ma X, Wu P, Li K, Wang S, Zhou J, Wang J, Xu X, Wang H, Ma D. Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism. Nat Genet 2015;47:158-63. [PMID: 25581428 DOI: 10.1038/ng.3178] [Cited by in Crossref: 227] [Cited by in F6Publishing: 200] [Article Influence: 32.4] [Reference Citation Analysis]
47 de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. Am J Hum Genet 2020;107:802-14. [PMID: 33022222 DOI: 10.1016/j.ajhg.2020.09.002] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 8.5] [Reference Citation Analysis]
48 Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J, MacArthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G; 1000 Genomes Project Consortium. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 2013;23:749-61. [PMID: 23478400 DOI: 10.1101/gr.148718.112] [Cited by in Crossref: 144] [Cited by in F6Publishing: 122] [Article Influence: 16.0] [Reference Citation Analysis]
49 Dahiya R, Hu Q, Ly P. Mechanistic origins of diverse genome rearrangements in cancer. Semin Cell Dev Biol 2021:S1084-9521(21)00035-5. [PMID: 33824062 DOI: 10.1016/j.semcdb.2021.03.003] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
50 Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H. Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report. BMC Med Genet 2018;19:210. [PMID: 30541480 DOI: 10.1186/s12881-018-0733-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
51 Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods 2013;10:903-9. [PMID: 23892896 DOI: 10.1038/nmeth.2572] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 3.3] [Reference Citation Analysis]
52 Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet 2015;97:170-6. [PMID: 26094575 DOI: 10.1016/j.ajhg.2015.05.012] [Cited by in Crossref: 37] [Cited by in F6Publishing: 31] [Article Influence: 5.3] [Reference Citation Analysis]
53 Kato I, Takagi Y, Ando Y, Nakamura Y, Murata M, Takagi A, Murate T, Matsushita T, Nakashima T, Kojima T. A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms. Int J Hematol 2014;100:200-5. [PMID: 24889358 DOI: 10.1007/s12185-014-1596-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
54 Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 2014;16:386-94. [PMID: 24136616 DOI: 10.1038/gim.2013.155] [Cited by in Crossref: 20] [Cited by in F6Publishing: 22] [Article Influence: 2.2] [Reference Citation Analysis]
55 Vogt J, Wernstedt A, Ripperger T, Pabst B, Zschocke J, Kratz C, Wimmer K. PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1. Eur J Hum Genet 2016;24:1598-604. [PMID: 27329736 DOI: 10.1038/ejhg.2016.75] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
56 Liu G, Ma D, Hu P, Wang W, Luo C, Wang Y, Sun Y, Zhang J, Jiang T, Xu Z. A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease. Front Genet 2018;9:145. [PMID: 29740478 DOI: 10.3389/fgene.2018.00145] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
57 Kaiser-rogers K, Rao KW. Structural Chromosome Rearrangements. In: Gersen SL, Keagle MB, editors. The Principles of Clinical Cytogenetics. New York: Springer; 2013. pp. 139-74. [DOI: 10.1007/978-1-4419-1688-4_9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
58 Atanur SS, Birol I, Guryev V, Hirst M, Hummel O, Morrissey C, Behmoaras J, Fernandez-Suarez XM, Johnson MD, McLaren WM, Patone G, Petretto E, Plessy C, Rockland KS, Rockland C, Saar K, Zhao Y, Carninci P, Flicek P, Kurtz T, Cuppen E, Pravenec M, Hubner N, Jones SJ, Birney E, Aitman TJ. The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance. Genome Res 2010;20:791-803. [PMID: 20430781 DOI: 10.1101/gr.103499.109] [Cited by in Crossref: 72] [Cited by in F6Publishing: 71] [Article Influence: 6.0] [Reference Citation Analysis]
59 Ewing A, Semple C. Breaking point: the genesis and impact of structural variation in tumours. F1000Res 2018;7:F1000 Faculty Rev-1814. [PMID: 30519450 DOI: 10.12688/f1000research.16079.1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
60 Koga T, Li B, Figueroa JM, Ren B, Chen CC, Carter BS, Furnari FB. Mapping of genomic EGFRvIII deletions in glioblastoma: insight into rearrangement mechanisms and biomarker development. Neuro Oncol 2018;20:1310-20. [PMID: 29660021 DOI: 10.1093/neuonc/noy058] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
61 Lupski JR. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. Am J Hum Genet 2019;104:391-406. [PMID: 30849326 DOI: 10.1016/j.ajhg.2018.12.018] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
62 Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME; Human Genome Structural Variation Consortium. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. Am J Hum Genet 2021;108:919-28. [PMID: 33789087 DOI: 10.1016/j.ajhg.2021.03.014] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
63 Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat 2013;34:1160-71. [PMID: 23649844 DOI: 10.1002/humu.22348] [Cited by in Crossref: 29] [Cited by in F6Publishing: 27] [Article Influence: 3.2] [Reference Citation Analysis]
64 Sinha S, Villarreal D, Shim EY, Lee SE. Risky business: Microhomology-mediated end joining. Mutat Res 2016;788:17-24. [PMID: 26790771 DOI: 10.1016/j.mrfmmm.2015.12.005] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 5.5] [Reference Citation Analysis]
65 Zerrouki R, Benhassine T, Bensaada M, Lauzon P, Trabzi A. The complex translocation (9;14;14) involving IGH and CEBPE genes suggests a new subgroup in B-lineage acute lymphoblastic leukemia. Genet Mol Biol 2016;39:7-13. [PMID: 27007892 DOI: 10.1590/S1415-475738420140368] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
66 McGinty RJ, Rubinstein RG, Neil AJ, Dominska M, Kiktev D, Petes TD, Mirkin SM. Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. Genome Res 2017;27:2072-82. [PMID: 29113982 DOI: 10.1101/gr.228148.117] [Cited by in Crossref: 26] [Cited by in F6Publishing: 21] [Article Influence: 5.2] [Reference Citation Analysis]
67 Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat 2010;31:1163-73. [PMID: 20725927 DOI: 10.1002/humu.21340] [Cited by in Crossref: 26] [Cited by in F6Publishing: 27] [Article Influence: 2.4] [Reference Citation Analysis]
68 Mikhail FM. Copy number variations and human genetic disease. Current Opinion in Pediatrics 2014;26:646-52. [DOI: 10.1097/mop.0000000000000142] [Cited by in Crossref: 29] [Cited by in F6Publishing: 11] [Article Influence: 3.6] [Reference Citation Analysis]
69 Yang F, Li L, Liu H, Cai Y, Wang G. Polymorphism in the exon 4 of β-lactoglobulin variant B precursor gene and its association with milk traits and protein structure in Chinese Holstein. Mol Biol Rep 2012;39:3957-64. [DOI: 10.1007/s11033-011-1175-6] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
70 Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet 2010;87:75-89. [PMID: 20598272 DOI: 10.1016/j.ajhg.2010.06.006] [Cited by in Crossref: 66] [Cited by in F6Publishing: 58] [Article Influence: 5.5] [Reference Citation Analysis]
71 McVean G. What drives recombination hotspots to repeat DNA in humans? Philos Trans R Soc Lond B Biol Sci 2010;365:1213-8. [PMID: 20308096 DOI: 10.1098/rstb.2009.0299] [Cited by in Crossref: 43] [Cited by in F6Publishing: 35] [Article Influence: 3.6] [Reference Citation Analysis]
72 Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol 2014;15:R80. [PMID: 24958239 DOI: 10.1186/gb-2014-15-6-r80] [Cited by in Crossref: 38] [Cited by in F6Publishing: 37] [Article Influence: 4.8] [Reference Citation Analysis]
73 Vissers LE, Stankiewicz P. Microdeletion and microduplication syndromes. Methods Mol Biol 2012;838:29-75. [PMID: 22228006 DOI: 10.1007/978-1-61779-507-7_2] [Cited by in Crossref: 41] [Cited by in F6Publishing: 35] [Article Influence: 4.1] [Reference Citation Analysis]
74 Togashi T, Meguro-Horike M, Nagaya S, Sugihara S, Ichinohe T, Araiso Y, Yamaguchi K, Mori K, Imai Y, Kuzasa K, Horike SI, Asakura H, Watanabe A, Morishita E. Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC. Thromb Res 2020;188:115-8. [PMID: 32199175 DOI: 10.1016/j.thromres.2020.03.009] [Reference Citation Analysis]
75 Huckaby AC, Granum CS, Carey MA, Szlachta K, Al-Barghouthi B, Wang YH, Guler JL. Complex DNA structures trigger copy number variation across the Plasmodium falciparum genome. Nucleic Acids Res 2019;47:1615-27. [PMID: 30576466 DOI: 10.1093/nar/gky1268] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
76 Hanscom T, McVey M. Regulation of Error-Prone DNA Double-Strand Break Repair and Its Impact on Genome Evolution. Cells 2020;9:E1657. [PMID: 32660124 DOI: 10.3390/cells9071657] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 7.5] [Reference Citation Analysis]
77 Iyer J, Girirajan S. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. Briefings in Functional Genomics 2015;14:315-28. [DOI: 10.1093/bfgp/elv018] [Cited by in Crossref: 20] [Cited by in F6Publishing: 12] [Article Influence: 2.9] [Reference Citation Analysis]
78 Lee C, Scherer SW. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010;12:e8. [PMID: 20211047 DOI: 10.1017/S1462399410001390] [Cited by in Crossref: 126] [Cited by in F6Publishing: 82] [Article Influence: 10.5] [Reference Citation Analysis]
79 Regnier FE, Kim J. Proteins and Proteoforms: New Separation Challenges. Anal Chem 2018;90:361-73. [PMID: 29207237 DOI: 10.1021/acs.analchem.7b05007] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 3.6] [Reference Citation Analysis]
80 Ambroziak W, Koziorowski D, Duszyc K, Górka-Skoczylas P, Potulska-Chromik A, Sławek J, Hoffman-Zacharska D. Genomic instability in the PARK2 locus is associated with Parkinson's disease. J Appl Genet 2015;56:451-61. [PMID: 25833766 DOI: 10.1007/s13353-015-0282-9] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 2.7] [Reference Citation Analysis]
81 Tae HJ, Rahman MM, Park BY. Temporal and spatial expression analysis of peripheral myelin protein 22 (Pmp22) in developing Xenopus. Gene Expr Patterns 2015;17:26-30. [PMID: 25616247 DOI: 10.1016/j.gep.2015.01.001] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
82 Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 2020;41:150-68. [PMID: 31448840 DOI: 10.1002/humu.23902] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
83 Zhang F, Carvalho CM, Lupski JR. Complex human chromosomal and genomic rearrangements. Trends Genet 2009;25:298-307. [PMID: 19560228 DOI: 10.1016/j.tig.2009.05.005] [Cited by in Crossref: 189] [Cited by in F6Publishing: 171] [Article Influence: 14.5] [Reference Citation Analysis]
84 Zhang CZ, Leibowitz ML, Pellman D. Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements. Genes Dev 2013;27:2513-30. [PMID: 24298051 DOI: 10.1101/gad.229559.113] [Cited by in Crossref: 175] [Cited by in F6Publishing: 146] [Article Influence: 21.9] [Reference Citation Analysis]
85 Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet 2017;49:36-45. [PMID: 27841880 DOI: 10.1038/ng.3720] [Cited by in Crossref: 163] [Cited by in F6Publishing: 128] [Article Influence: 27.2] [Reference Citation Analysis]
86 Umbreit NT, Zhang CZ, Lynch LD, Blaine LJ, Cheng AM, Tourdot R, Sun L, Almubarak HF, Judge K, Mitchell TJ, Spektor A, Pellman D. Mechanisms generating cancer genome complexity from a single cell division error. Science 2020;368:eaba0712. [PMID: 32299917 DOI: 10.1126/science.aba0712] [Cited by in Crossref: 113] [Cited by in F6Publishing: 87] [Article Influence: 56.5] [Reference Citation Analysis]
87 You G, Chi K, Lu Y, Ding Q, Dai J, Xi X, Wang H, Wang X. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene. Thromb Haemost 2017;112:264-70. [DOI: 10.1160/th13-10-0892] [Cited by in Crossref: 8] [Cited by in F6Publishing: 1] [Article Influence: 1.6] [Reference Citation Analysis]
88 Shchelochkov OA, Cheung S, Lupski J. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet 2010;152A:1101-10. [DOI: 10.1002/ajmg.a.33248] [Cited by in Crossref: 27] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
89 Shaikh TH. Copy Number Variation Disorders. Curr Genet Med Rep 2017;5:183-90. [PMID: 29732242 DOI: 10.1007/s40142-017-0129-2] [Cited by in Crossref: 16] [Cited by in F6Publishing: 8] [Article Influence: 3.2] [Reference Citation Analysis]
90 Kallabi F, Ben Salah G, Ben Chehida A, Tabebi M, Felhi R, Ben Turkia H, Tebib N, Keskes L, Kamoun H. A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease. Biochem Cell Biol 2016;94:265-9. [PMID: 27248780 DOI: 10.1139/bcb-2015-0168] [Reference Citation Analysis]
91 Keegan NP, Wilton SD, Fletcher S. Breakpoint junction features of seven DMD deletion mutations. Hum Genome Var 2019;6:39. [PMID: 31645977 DOI: 10.1038/s41439-019-0070-x] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
92 Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck FJ, Urban AE, Vaccarino FM, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Res 2020;30:1695-704. [PMID: 33122304 DOI: 10.1101/gr.262667.120] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
93 Pisarska J, Baldy-Chudzik K. MicroRNA-Based Fingerprinting of Cervical Lesions and Cancer. J Clin Med 2020;9:E3668. [PMID: 33203149 DOI: 10.3390/jcm9113668] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
94 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
95 Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC. The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet 2014;15:215-44. [PMID: 24773319 DOI: 10.1146/annurev-genom-091212-153408] [Cited by in Crossref: 94] [Cited by in F6Publishing: 77] [Article Influence: 11.8] [Reference Citation Analysis]
96 Bryant EE, Šunjevarić I, Berchowitz L, Rothstein R, Reid RJD. Rad5 dysregulation drives hyperactive recombination at replication forks resulting in cisplatin sensitivity and genome instability. Nucleic Acids Res 2019;47:9144-59. [PMID: 31350889 DOI: 10.1093/nar/gkz631] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 3.7] [Reference Citation Analysis]
97 Yalcin B, Wong K, Bhomra A, Goodson M, Keane TM, Adams DJ, Flint J. The fine-scale architecture of structural variants in 17 mouse genomes. Genome Biol 2012;13:R18. [PMID: 22439878 DOI: 10.1186/gb-2012-13-3-r18] [Cited by in Crossref: 40] [Cited by in F6Publishing: 41] [Article Influence: 4.0] [Reference Citation Analysis]
98 Sankaranarayanan K, Nikjoo H. Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research. International Journal of Radiation Biology 2010;87:161-78. [DOI: 10.3109/09553002.2010.518214] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 1.2] [Reference Citation Analysis]
99 Quinlan AR, Clark RA, Sokolova S, Leibowitz ML, Zhang Y, Hurles ME, Mell JC, Hall IM. Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res 2010;20:623-35. [PMID: 20308636 DOI: 10.1101/gr.102970.109] [Cited by in Crossref: 212] [Cited by in F6Publishing: 179] [Article Influence: 17.7] [Reference Citation Analysis]
100 Zhao P, Li J, Kang H, Wang H, Fan Z, Yin Z, Wang J, Zhang Q, Wang Z, Liu JF. Structural Variant Detection by Large-scale Sequencing Reveals New Evolutionary Evidence on Breed Divergence between Chinese and European Pigs. Sci Rep 2016;6:18501. [PMID: 26729041 DOI: 10.1038/srep18501] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
101 Keuper K, Wieland A, Räschle M, Storchova Z. Processes shaping cancer genomes - From mitotic defects to chromosomal rearrangements. DNA Repair (Amst) 2021;107:103207. [PMID: 34425515 DOI: 10.1016/j.dnarep.2021.103207] [Reference Citation Analysis]
102 Kim TM, Ko JH, Hu L, Kim SA, Bishop AJ, Vijg J, Montagna C, Hasty P. RAD51 mutants cause replication defects and chromosomal instability. Mol Cell Biol 2012;32:3663-80. [PMID: 22778135 DOI: 10.1128/MCB.00406-12] [Cited by in Crossref: 37] [Cited by in F6Publishing: 24] [Article Influence: 3.7] [Reference Citation Analysis]
103 Watanabe T, Marotta M, Suzuki R, Diede SJ, Tapscott SJ, Niida A, Chen X, Mouakkad L, Kondratova A, Giuliano AE, Orsulic S, Tanaka H. Impediment of Replication Forks by Long Non-coding RNA Provokes Chromosomal Rearrangements by Error-Prone Restart. Cell Rep 2017;21:2223-35. [PMID: 29166612 DOI: 10.1016/j.celrep.2017.10.103] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
104 Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009;10:451-81. [PMID: 19715442 DOI: 10.1146/annurev.genom.9.081307.164217] [Cited by in Crossref: 741] [Cited by in F6Publishing: 664] [Article Influence: 57.0] [Reference Citation Analysis]
105 Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 2014;95:173-82. [PMID: 25087610 DOI: 10.1016/j.ajhg.2014.07.003] [Cited by in Crossref: 157] [Cited by in F6Publishing: 143] [Article Influence: 19.6] [Reference Citation Analysis]
106 Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T. Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. J Hum Genet 2020;65:735-41. [PMID: 32355308 DOI: 10.1038/s10038-020-0762-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
107 Yalcin B, Wong K, Agam A, Goodson M, Keane TM, Gan X, Nellåker C, Goodstadt L, Nicod J, Bhomra A, Hernandez-Pliego P, Whitley H, Cleak J, Dutton R, Janowitz D, Mott R, Adams DJ, Flint J. Sequence-based characterization of structural variation in the mouse genome. Nature 2011;477:326-9. [PMID: 21921916 DOI: 10.1038/nature10432] [Cited by in Crossref: 222] [Cited by in F6Publishing: 207] [Article Influence: 20.2] [Reference Citation Analysis]
108 Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet. 2011;20:1916-1924. [PMID: 21349919 DOI: 10.1093/hmg/ddr073] [Cited by in Crossref: 196] [Cited by in F6Publishing: 191] [Article Influence: 17.8] [Reference Citation Analysis]
109 Liu L, Wang HD, Cui CY, Wu D, Li T, Fan TB, Peng BT, Zhang LZ, Wang CZ. Application of array-comparative genomic hybridization in tetralogy of Fallot. Medicine (Baltimore) 2016;95:e5552. [PMID: 27930557 DOI: 10.1097/MD.0000000000005552] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 1.2] [Reference Citation Analysis]
110 Sakofsky CJ, Ayyar S, Malkova A. Break-induced replication and genome stability. Biomolecules 2012;2:483-504. [PMID: 23767011 DOI: 10.3390/biom2040483] [Cited by in Crossref: 24] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
111 Van der Aa N, Cheng J, Mateiu L, Zamani Esteki M, Kumar P, Dimitriadou E, Vanneste E, Moreau Y, Vermeesch JR, Voet T. Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains. Nucleic Acids Res 2013;41:e66. [PMID: 23295674 DOI: 10.1093/nar/gks1352] [Cited by in Crossref: 50] [Cited by in F6Publishing: 48] [Article Influence: 5.6] [Reference Citation Analysis]
112 Casola C, Koralewski TE. Pinaceae show elevated rates of gene turnover that are robust to incomplete gene annotation. Plant J 2018;95:862-76. [DOI: 10.1111/tpj.13994] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
113 Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol 2015;172:803-11. [PMID: 25924874 DOI: 10.1530/EJE-14-1154] [Cited by in Crossref: 35] [Cited by in F6Publishing: 17] [Article Influence: 5.0] [Reference Citation Analysis]
114 [DOI: 10.1101/281683] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
115 Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B. Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. Eur J Med Genet 2019;62:103724. [PMID: 31315069 DOI: 10.1016/j.ejmg.2019.103724] [Reference Citation Analysis]
116 Alvarez CE, Akey JM. Copy number variation in the domestic dog. Mamm Genome 2012;23:144-63. [PMID: 22138850 DOI: 10.1007/s00335-011-9369-8] [Cited by in Crossref: 39] [Cited by in F6Publishing: 38] [Article Influence: 3.5] [Reference Citation Analysis]
117 Liu P, Carvalho CM, Hastings PJ, Lupski JR. Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev 2012;22:211-20. [PMID: 22440479 DOI: 10.1016/j.gde.2012.02.012] [Cited by in Crossref: 224] [Cited by in F6Publishing: 204] [Article Influence: 22.4] [Reference Citation Analysis]
118 Abelleyro MM, Radic CP, Marchione VD, Waisman K, Tetzlaff T, Neme D, Rossetti LC, De Brasi CD. Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A. Hum Mutat 2020;41:825-36. [PMID: 31898853 DOI: 10.1002/humu.23977] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
119 Cao L, Yang W, Wang S, Chen C, Zhang X, Luo Y. Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. Genet Test Mol Biomarkers 2017;21:357-62. [PMID: 28422522 DOI: 10.1089/gtmb.2016.0415] [Reference Citation Analysis]
120 Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 2016;18:443-51. [PMID: 26378787 DOI: 10.1038/gim.2015.124] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
121 Stankiewicz P, Pursley AN, Cheung SW. Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet 2010;152A:1089-100. [DOI: 10.1002/ajmg.a.33216] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 2.3] [Reference Citation Analysis]
122 Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V. Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet 2012;20:990-4. [PMID: 22378281 DOI: 10.1038/ejhg.2012.29] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 3.1] [Reference Citation Analysis]
123 Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. Am J Med Genet A 2010;152A:305-12. [PMID: 20082459 DOI: 10.1002/ajmg.a.33198] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 1.9] [Reference Citation Analysis]
124 Malhotra A, Lindberg M, Faust GG, Leibowitz ML, Clark RA, Layer RM, Quinlan AR, Hall IM. Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms. Genome Res 2013;23:762-76. [PMID: 23410887 DOI: 10.1101/gr.143677.112] [Cited by in Crossref: 128] [Cited by in F6Publishing: 113] [Article Influence: 14.2] [Reference Citation Analysis]
125 Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genet 2016;12:e1006177. [PMID: 27438001 DOI: 10.1371/journal.pgen.1006177] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
126 Aksenova AY, Zhuk AS, Lada AG, Zotova IV, Stepchenkova EI, Kostroma II, Gritsaev SV, Pavlov YI. Genome Instability in Multiple Myeloma: Facts and Factors. Cancers (Basel) 2021;13:5949. [PMID: 34885058 DOI: 10.3390/cancers13235949] [Reference Citation Analysis]
127 Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW. Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat 2013;34:345-54. [PMID: 23086744 DOI: 10.1002/humu.22240] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 2.4] [Reference Citation Analysis]
128 Boettger LM, Handsaker RE, Zody MC, McCarroll SA. Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet 2012;44:881-5. [PMID: 22751096 DOI: 10.1038/ng.2334] [Cited by in Crossref: 74] [Cited by in F6Publishing: 65] [Article Influence: 7.4] [Reference Citation Analysis]
129 Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES. Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. Am J Med Genet A 2014;164A:3083-7. [PMID: 25251319 DOI: 10.1002/ajmg.a.36769] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 3.0] [Reference Citation Analysis]
130 Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 2015;56:419-36. [PMID: 25892534 DOI: 10.1002/em.21943] [Cited by in Crossref: 90] [Cited by in F6Publishing: 70] [Article Influence: 12.9] [Reference Citation Analysis]
131 Kubota A, Ishiura H, Porto KJL, Tanaka M, Mitsui J, Unuma A, Maki H, Komuro I, Tsuji S, Shimizu J, Toda T. DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism. Neuromuscular Disorders 2021. [DOI: 10.1016/j.nmd.2021.12.004] [Reference Citation Analysis]
132 Weisschuh N, Mazzola P, Heinrich T, Haack T, Wissinger B, Tonagel F, Kelbsch C. First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report. BMC Med Genet 2020;21:236. [PMID: 33243194 DOI: 10.1186/s12881-020-01166-z] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
133 Bergbaum A, Ogilvie CM. Autism and chromosome abnormalities-A review: Autism and Chromosome Abnormalities-A Review. Clin Anat 2016;29:620-7. [DOI: 10.1002/ca.22719] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
134 Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy. Am J Med Genet A 2014;164A:748-52. [PMID: 24357149 DOI: 10.1002/ajmg.a.36322] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
135 Fadaie Z, Neveling K, Mantere T, Derks R, Haer-Wigman L, den Ouden A, Kwint M, O'Gorman L, Valkenburg D, Hoyng CB, Gilissen C, Vissers LELM, Nelen M, Cremers FPM, Hoischen A, Roosing S. Long-read technologies identify a hidden inverted duplication in a family with choroideremia. HGG Adv 2021;2:100046. [PMID: 35047838 DOI: 10.1016/j.xhgg.2021.100046] [Reference Citation Analysis]
136 Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis 2012;7:2. [PMID: 22216833 DOI: 10.1186/1750-1172-7-2] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 2.5] [Reference Citation Analysis]
137 Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 2017;9:83. [PMID: 28934986 DOI: 10.1186/s13073-017-0472-7] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 7.0] [Reference Citation Analysis]
138 Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Hum Genet 2011;130:103-21. [PMID: 21594611 DOI: 10.1007/s00439-011-1001-1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 0.9] [Reference Citation Analysis]
139 Poot M, Hochstenbach R. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genet Med 2010;12:478-85. [PMID: 20734469 DOI: 10.1097/GIM.0b013e3181e3914a] [Cited by in Crossref: 16] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
140 So A, Le Guen T, Lopez BS, Guirouilh-Barbat J. Genomic rearrangements induced by unscheduled DNA double strand breaks in somatic mammalian cells. FEBS J 2017;284:2324-44. [PMID: 28244221 DOI: 10.1111/febs.14053] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
141 Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L. Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. Hum Mutat 2014;35:891-8. [PMID: 24760680 DOI: 10.1002/humu.22569] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 1.1] [Reference Citation Analysis]
142 Granot-hershkovitz E, Raas-rothschild A, Frumkin A, Granot D, Silverstein S, Abeliovich D. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2). Am J Med Genet 2011;155:1825-32. [DOI: 10.1002/ajmg.a.33952] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
143 Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. J Med Genet 2019;56:526-35. [PMID: 30923172 DOI: 10.1136/jmedgenet-2018-105778] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 7.7] [Reference Citation Analysis]
144 Zhang Y, Haraksingh R, Grubert F, Abyzov A, Gerstein M, Weissman S, Urban AE. Child development and structural variation in the human genome. Child Dev 2013;84:34-48. [PMID: 23311762 DOI: 10.1111/cdev.12051] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 1.9] [Reference Citation Analysis]
145 You GL, Ding QL, Lu YL, Dai J, Xi XD, Wang XF, Wang HL. Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique. J Thromb Haemost 2013;11:1103-10. [PMID: 23551875 DOI: 10.1111/jth.12205] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 2.8] [Reference Citation Analysis]
146 El-hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants. Genet Med 2010;12:573-86. [DOI: 10.1097/gim.0b013e3181eb9b4a] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 2.1] [Reference Citation Analysis]
147 El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet 2009;126:589-602. [PMID: 19557438 DOI: 10.1007/s00439-009-0706-x] [Cited by in Crossref: 55] [Cited by in F6Publishing: 55] [Article Influence: 4.2] [Reference Citation Analysis]
148 Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. Am J Med Genet A 2014;164A:2025-8. [PMID: 24715584 DOI: 10.1002/ajmg.a.36547] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
149 Vandeweyer G, Kooy RF. Detection and interpretation of genomic structural variation in health and disease. Expert Review of Molecular Diagnostics 2014;13:61-82. [DOI: 10.1586/erm.12.119] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
150 Barbaro M, Kotajärvi M, Harper P, Floderus Y. Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. Orphanet J Rare Dis 2013;8:13. [PMID: 23324528 DOI: 10.1186/1750-1172-8-13] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
151 Xie H, Li X, Peng J, Chen Q, Gao Z, Song X, Li W, Xiao J, Li C, Zhang T, Gusella JF, Zhong J, Chen X. A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. Sci Rep 2017;7:44271. [PMID: 28333167 DOI: 10.1038/srep44271] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
152 Morice-picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2 , and SLC45A2 genes and a complex rearrangement of the OCA2 gene. Pigment Cell Melanoma Res 2014;27:59-71. [DOI: 10.1111/pcmr.12173] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
153 Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ, Parr JR, Wilkie AO; International Molecular Genetic Study of Autism Consortium (IMGSAC). De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. J Med Genet 2014;51:737-47. [PMID: 25228304 DOI: 10.1136/jmedgenet-2014-102582] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 2.0] [Reference Citation Analysis]
154 Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011;43:1074-1081. [PMID: 21964572 DOI: 10.1038/ng.944] [Cited by in Crossref: 136] [Cited by in F6Publishing: 126] [Article Influence: 12.4] [Reference Citation Analysis]
155 Le Guen T, Ragu S, Guirouilh-Barbat J, Lopez BS. Role of the double-strand break repair pathway in the maintenance of genomic stability. Mol Cell Oncol 2015;2:e968020. [PMID: 27308383 DOI: 10.4161/23723548.2014.968020] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.4] [Reference Citation Analysis]
156 Mukherjee K, Storici F. A mechanism of gene amplification driven by small DNA fragments. PLoS Genet 2012;8:e1003119. [PMID: 23271978 DOI: 10.1371/journal.pgen.1003119] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.0] [Reference Citation Analysis]
157 Carvalho CM, Zhang F, Lupski JR. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med 2011;57:3-16. [PMID: 21210740 DOI: 10.3109/19396368.2010.527427] [Cited by in Crossref: 26] [Cited by in F6Publishing: 27] [Article Influence: 2.4] [Reference Citation Analysis]
158 Choi BO, Kim NK, Park SW, Hyun YS, Jeon HJ, Hwang JH, Chung KW. Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. Neurogenetics 2011;12:51-8. [PMID: 21193943 DOI: 10.1007/s10048-010-0272-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 0.9] [Reference Citation Analysis]
159 Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nat Commun 2015;6:7256. [PMID: 26028266 DOI: 10.1038/ncomms8256] [Cited by in Crossref: 58] [Cited by in F6Publishing: 49] [Article Influence: 8.3] [Reference Citation Analysis]
160 Schimmel J, van Schendel R, den Dunnen JT, Tijsterman M. Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining. Trends in Genetics 2019;35:632-44. [DOI: 10.1016/j.tig.2019.06.001] [Cited by in Crossref: 42] [Cited by in F6Publishing: 31] [Article Influence: 14.0] [Reference Citation Analysis]
161 Pardo B, Aguilera A. Complex chromosomal rearrangements mediated by break-induced replication involve structure-selective endonucleases. PLoS Genet 2012;8:e1002979. [PMID: 23071463 DOI: 10.1371/journal.pgen.1002979] [Cited by in Crossref: 39] [Cited by in F6Publishing: 32] [Article Influence: 3.9] [Reference Citation Analysis]
162 Capalbo A, Rienzi L, Ubaldi FM. Diagnosis and clinical management of duplications and deletions. Fertility and Sterility 2017;107:12-8. [DOI: 10.1016/j.fertnstert.2016.11.002] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 3.2] [Reference Citation Analysis]
163 Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet 2016;135:9-19. [PMID: 26527198 DOI: 10.1007/s00439-015-1605-y] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 3.9] [Reference Citation Analysis]
164 Lupski JR. New mutations and intellectual function. Nat Genet 2010;42:1036-8. [PMID: 21102619 DOI: 10.1038/ng1210-1036] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 2.3] [Reference Citation Analysis]
165 Ma S, Chen C, Liang Q, Wu X, Wang X, Wu W, Liu Y, Ding Q. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement. Orphanet J Rare Dis 2019;14:182. [PMID: 31340840 DOI: 10.1186/s13023-019-1144-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
166 Malkova A, Ira G. Break-induced replication: functions and molecular mechanism. Curr Opin Genet Dev 2013;23:271-9. [PMID: 23790415 DOI: 10.1016/j.gde.2013.05.007] [Cited by in Crossref: 125] [Cited by in F6Publishing: 112] [Article Influence: 13.9] [Reference Citation Analysis]
167 Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol 2017;4:236-45. [PMID: 28382305 DOI: 10.1002/acn3.395] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
168 Cheng C, Zhou Y, Li H, Xiong T, Li S, Bi Y, Kong P, Wang F, Cui H, Li Y, Fang X, Yan T, Li Y, Wang J, Yang B, Zhang L, Jia Z, Song B, Hu X, Yang J, Qiu H, Zhang G, Liu J, Xu E, Shi R, Zhang Y, Liu H, He C, Zhao Z, Qian Y, Rong R, Han Z, Zhang Y, Luo W, Wang J, Peng S, Yang X, Li X, Li L, Fang H, Liu X, Ma L, Chen Y, Guo S, Chen X, Xi Y, Li G, Liang J, Yang X, Guo J, Jia J, Li Q, Cheng X, Zhan Q, Cui Y. Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma. Am J Hum Genet 2016;98:256-74. [PMID: 26833333 DOI: 10.1016/j.ajhg.2015.12.013] [Cited by in Crossref: 70] [Cited by in F6Publishing: 72] [Article Influence: 11.7] [Reference Citation Analysis]
169 Bartnik M, Chun-Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures. Clin Genet 2011;80:191-5. [PMID: 20807223 DOI: 10.1111/j.1399-0004.2010.01526.x] [Cited by in Crossref: 15] [Cited by in F6Publishing: 19] [Article Influence: 1.3] [Reference Citation Analysis]
170 Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet 2017;26:1927-41. [PMID: 28334874 DOI: 10.1093/hmg/ddx102] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
171 Liang J, Cui Z, Wu C, Yu Y, Tian R, Xie H, Jin Z, Fan W, Xie W, Huang Z, Xu W, Zhu J, You Z, Guo X, Qiu X, Ye J, Lang B, Li M, Tan S, Hu Z. DeepEBV: A deep learning model to predict Epstein-Barr virus (EBV) integration sites. Bioinformatics 2021:btab388. [PMID: 34009299 DOI: 10.1093/bioinformatics/btab388] [Reference Citation Analysis]
172 Lannoy N, Hermans C. Principles of genetic variations and molecular diseases: applications in hemophilia A. Crit Rev Oncol Hematol 2016;104:1-8. [PMID: 27296059 DOI: 10.1016/j.critrevonc.2016.04.005] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
173 Yammine T, Reynaud N, Lejeune H, Diguet F, Rollat-Farnier PA, Labalme A, Plotton I, Farra C, Sanlaville D, Chouery E, Schluth-Bolard C. Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders. Mol Hum Reprod 2021;27:gaab034. [PMID: 34009290 DOI: 10.1093/molehr/gaab034] [Reference Citation Analysis]
174 Sankaranarayanan K, Taleei R, Rahmanian S, Nikjoo H. Ionizing radiation and genetic risks. XVII. Formation mechanisms underlying naturally occurring DNA deletions in the human genome and their potential relevance for bridging the gap between induced DNA double-strand breaks and deletions in irradiated germ cells. Mutat Res 2013;753:114-30. [PMID: 23948232 DOI: 10.1016/j.mrrev.2013.07.003] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 1.8] [Reference Citation Analysis]
175 Żmieńko A, Samelak A, Kozłowski P, Figlerowicz M. Copy number polymorphism in plant genomes. Theor Appl Genet 2014;127:1-18. [PMID: 23989647 DOI: 10.1007/s00122-013-2177-7] [Cited by in Crossref: 118] [Cited by in F6Publishing: 96] [Article Influence: 13.1] [Reference Citation Analysis]
176 Zuccherato LW, Alleva B, Whiters MA, Carvalho CM, Lupski JR. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 2016;135:253-6. [PMID: 26667017 DOI: 10.1007/s00439-015-1614-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
177 Zhan Y, Zi X, Hu Z, Peng Y, Wu L, Li X, Jiang M, Liu L, Xie Y, Xia K, Tang B, Zhang R. PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1. Muscle Nerve 2015;52:69-75. [PMID: 25522693 DOI: 10.1002/mus.24550] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
178 Maréchal A, Brisson N. Recombination and the maintenance of plant organelle genome stability. New Phytol 2010;186:299-317. [PMID: 20180912 DOI: 10.1111/j.1469-8137.2010.03195.x] [Cited by in Crossref: 235] [Cited by in F6Publishing: 223] [Article Influence: 19.6] [Reference Citation Analysis]
179 Yang R, Fang S, Wang J, Zhang C, Zhang R, Liu D, Zhao Y, Hu X, Li N. Genome-wide analysis of structural variants reveals genetic differences in Chinese pigs. PLoS One 2017;12:e0186721. [PMID: 29065176 DOI: 10.1371/journal.pone.0186721] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
180 Mani RS, Chinnaiyan AM. Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences. Nat Rev Genet 2010;11:819-29. [PMID: 21045868 DOI: 10.1038/nrg2883] [Cited by in Crossref: 95] [Cited by in F6Publishing: 87] [Article Influence: 7.9] [Reference Citation Analysis]
181 Marczok S, Bortz B, Wang C, Pospisil H. Comprehensive Analysis of Genome Rearrangements in Eight Human Malignant Tumor Tissues. PLoS One 2016;11:e0158995. [PMID: 27391163 DOI: 10.1371/journal.pone.0158995] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
182 Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet 2011;20:3769-78. [PMID: 21729882 DOI: 10.1093/hmg/ddr293] [Cited by in Crossref: 26] [Cited by in F6Publishing: 28] [Article Influence: 2.4] [Reference Citation Analysis]
183 Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 2011;20:1975-88. [PMID: 21355048 DOI: 10.1093/hmg/ddr078] [Cited by in Crossref: 53] [Cited by in F6Publishing: 51] [Article Influence: 4.8] [Reference Citation Analysis]
184 Hasty P, Montagna C. Chromosomal Rearrangements in Cancer: Detection and potential causal mechanisms. Mol Cell Oncol 2014;1:e29904. [PMID: 26203462 DOI: 10.4161/mco.29904] [Cited by in Crossref: 26] [Cited by in F6Publishing: 26] [Article Influence: 3.3] [Reference Citation Analysis]
185 Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet 2014;22:57-63. [PMID: 23632792 DOI: 10.1038/ejhg.2013.67] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 2.8] [Reference Citation Analysis]
186 Uddin M, Sturge M, Peddle L, O'Rielly DD, Rahman P. Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans. PLoS One 2011;6:e28853. [PMID: 22194928 DOI: 10.1371/journal.pone.0028853] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
187 Carr AM, Lambert S. Replication stress-induced genome instability: the dark side of replication maintenance by homologous recombination. J Mol Biol. 2013;425:4733-4744. [PMID: 23643490 DOI: 10.1016/j.jmb.2013.04.023] [Cited by in Crossref: 126] [Cited by in F6Publishing: 120] [Article Influence: 14.0] [Reference Citation Analysis]
188 Balachandran P, Beck CR. Structural variant identification and characterization. Chromosome Res 2020;28:31-47. [PMID: 31907725 DOI: 10.1007/s10577-019-09623-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
189 Abbas HHK, Alhamoudi KMH, Evans MD, Jones GDD, Foster SS. MTH1 deficiency selectively increases non-cytotoxic oxidative DNA damage in lung cancer cells: more bad news than good? BMC Cancer 2018;18:423. [PMID: 29661172 DOI: 10.1186/s12885-018-4332-7] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 2.3] [Reference Citation Analysis]
190 Migliore C, Athanasakis E, Dahoun S, Wonkam A, Lees M, Calabrese O, Connell F, Lynch SA, Izzi C, Pompilii E, Thakur S, van Maarle M, Wilson LC, Meroni G. Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. European Journal of Medical Genetics 2013;56:404-10. [DOI: 10.1016/j.ejmg.2013.05.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
191 Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 2011;32:1075-99. [PMID: 21853507 DOI: 10.1002/humu.21557] [Cited by in Crossref: 83] [Cited by in F6Publishing: 75] [Article Influence: 7.5] [Reference Citation Analysis]
192 Fujiwara K. Novel Genetic Rearrangements in Hepatitis B Virus: Complex Structural Variations and Structural Variation Polymorphisms. Viruses 2021;13:473. [PMID: 33809245 DOI: 10.3390/v13030473] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
193 Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 2012;53:1441-9. [PMID: 22709267 DOI: 10.1111/j.1528-1167.2012.03548.x] [Cited by in Crossref: 50] [Cited by in F6Publishing: 46] [Article Influence: 5.0] [Reference Citation Analysis]
194 Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med 2012;14:90-4. [PMID: 22237436 DOI: 10.1038/gim.0b013e3182329723] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 1.9] [Reference Citation Analysis]
195 Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. Am J Med Genet A 2012;158A:861-8. [PMID: 22407754 DOI: 10.1002/ajmg.a.35235] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.5] [Reference Citation Analysis]
196 Gelot C, Magdalou I, Lopez BS. Replication stress in Mammalian cells and its consequences for mitosis. Genes (Basel) 2015;6:267-98. [PMID: 26010955 DOI: 10.3390/genes6020267] [Cited by in Crossref: 63] [Cited by in F6Publishing: 55] [Article Influence: 9.0] [Reference Citation Analysis]
197 Burns J, Ouvrier RA, Yiu EM, Ryan MM. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid. J Peripher Nerv Syst 2011;16:272-4. [PMID: 22003943 DOI: 10.1111/j.1529-8027.2011.00348.x] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.2] [Reference Citation Analysis]
198 Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics 2015;14:369-79. [PMID: 25998059 DOI: 10.1093/bfgp/elv020] [Cited by in Crossref: 67] [Cited by in F6Publishing: 47] [Article Influence: 9.6] [Reference Citation Analysis]
199 Jahic A, Hinreiner S, Emberger W, Hehr U, Zuchner S, Beetz C. Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Hum Mutat 2017;38:275-8. [PMID: 28008689 DOI: 10.1002/humu.23162] [Reference Citation Analysis]
200 Xu Y, Wang H, Xiao B, Wei W, Liu Y, Ye H, Ying X, Chen Y, Liu X, Ji X, Sun Y. Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing. Gene 2018;645:113-8. [PMID: 29273555 DOI: 10.1016/j.gene.2017.12.037] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
201 Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 2016;99:318-36. [PMID: 27486776 DOI: 10.1016/j.ajhg.2015.04.023] [Cited by in Crossref: 63] [Cited by in F6Publishing: 56] [Article Influence: 12.6] [Reference Citation Analysis]
202 Weckselblatt B, Rudd MK. Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet 2015;31:587-99. [PMID: 26209074 DOI: 10.1016/j.tig.2015.05.010] [Cited by in Crossref: 101] [Cited by in F6Publishing: 90] [Article Influence: 14.4] [Reference Citation Analysis]
203 Lambert S, Mizuno K, Blaisonneau J, Martineau S, Chanet R, Fréon K, Murray JM, Carr AM, Baldacci G. Homologous Recombination Restarts Blocked Replication Forks at the Expense of Genome Rearrangements by Template Exchange. Molecular Cell 2010;39:346-59. [DOI: 10.1016/j.molcel.2010.07.015] [Cited by in Crossref: 130] [Cited by in F6Publishing: 124] [Article Influence: 10.8] [Reference Citation Analysis]
204 Gadgil RY, Romer EJ, Goodman CC, Rider SD Jr, Damewood FJ, Barthelemy JR, Shin-Ya K, Hanenberg H, Leffak M. Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication. J Biol Chem 2020;295:15378-97. [PMID: 32873711 DOI: 10.1074/jbc.RA120.013495] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
205 Fu W, Zhang F, Wang Y, Gu X, Jin L. Identification of copy number variation hotspots in human populations. Am J Hum Genet 2010;87:494-504. [PMID: 20920665 DOI: 10.1016/j.ajhg.2010.09.006] [Cited by in Crossref: 35] [Cited by in F6Publishing: 27] [Article Influence: 2.9] [Reference Citation Analysis]
206 Weckselblatt B, Hermetz KE, Rudd MK. Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis. Genome Res 2015;25:937-47. [PMID: 26070663 DOI: 10.1101/gr.191247.115] [Cited by in Crossref: 44] [Cited by in F6Publishing: 36] [Article Influence: 6.3] [Reference Citation Analysis]
207 Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J 2013;13:558-66. [PMID: 23164804 DOI: 10.1038/tpj.2012.48] [Cited by in Crossref: 35] [Cited by in F6Publishing: 36] [Article Influence: 3.5] [Reference Citation Analysis]
208 Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics 2010;11:465-70. [PMID: 20532933 DOI: 10.1007/s10048-010-0247-4] [Cited by in Crossref: 23] [Cited by in F6Publishing: 23] [Article Influence: 1.9] [Reference Citation Analysis]
209 Guirouilh-Barbat J, Lambert S, Bertrand P, Lopez BS. Is homologous recombination really an error-free process? Front Genet 2014;5:175. [PMID: 24966870 DOI: 10.3389/fgene.2014.00175] [Cited by in Crossref: 66] [Cited by in F6Publishing: 53] [Article Influence: 8.3] [Reference Citation Analysis]
210 Pierini V, Nofrini V, La Starza R, Barba G, Vitale A, Di Raimondo F, Matteucci C, Crescenzi B, Elia L, Gorello P, Storlazzi CT, Mecucci C. Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia. Cancer Genetics 2011;204:563-8. [DOI: 10.1016/j.cancergen.2011.10.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
211 Sanchez-Valle A, Pierpont ME, Potocki L. The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A 2011;155A:363-6. [PMID: 21271655 DOI: 10.1002/ajmg.a.33844] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 1.8] [Reference Citation Analysis]
212 Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner VF. Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. Mol Genet Genomic Med 2018. [PMID: 29779243 DOI: 10.1002/mgg3.412] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
213 Matsui A, Ihara T, Suda H, Mikami H, Semba K. Gene amplification: mechanisms and involvement in cancer. Biomol Concepts 2013;4:567-82. [PMID: 25436757 DOI: 10.1515/bmc-2013-0026] [Cited by in Crossref: 39] [Cited by in F6Publishing: 40] [Article Influence: 5.6] [Reference Citation Analysis]
214 Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology 2012;78:269-78. [PMID: 22238415 DOI: 10.1212/WNL.0b013e31824365e4] [Cited by in Crossref: 16] [Cited by in F6Publishing: 7] [Article Influence: 1.6] [Reference Citation Analysis]
215 Legerski RJ. Repair of DNA interstrand cross-links during S phase of the mammalian cell cycle. Environ Mol Mutagen 2010;51:540-51. [PMID: 20658646 DOI: 10.1002/em.20566] [Cited by in Crossref: 5] [Cited by in F6Publishing: 17] [Article Influence: 0.4] [Reference Citation Analysis]
216 Zahir FR, Marra MA. Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation. Curr Protoc Hum Genet 2015;85:8.13.1-8.13.13. [PMID: 25827348 DOI: 10.1002/0471142905.hg0813s85] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
217 Lambert S, Carr AM. Replication stress and genome rearrangements: lessons from yeast models. Curr Opin Genet Dev 2013;23:132-9. [PMID: 23267817 DOI: 10.1016/j.gde.2012.11.009] [Cited by in Crossref: 43] [Cited by in F6Publishing: 40] [Article Influence: 4.3] [Reference Citation Analysis]
218 Fujiwara K, Matsunami K, Iio E, Nojiri S, Joh T. Novel non-canonical genetic rearrangements termed "complex structural variations" in HBV genome. Virus Res 2017;238:84-93. [PMID: 28627394 DOI: 10.1016/j.virusres.2017.06.009] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
219 Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR; DDD Study. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 2015;96:555-64. [PMID: 25799105 DOI: 10.1016/j.ajhg.2015.01.021] [Cited by in Crossref: 38] [Cited by in F6Publishing: 36] [Article Influence: 5.4] [Reference Citation Analysis]
220 Shao H, Ganesamoorthy D, Duarte T, Cao MD, Hoggart CJ, Coin LJM. npInv: accurate detection and genotyping of inversions using long read sub-alignment. BMC Bioinformatics 2018;19:261. [PMID: 30001702 DOI: 10.1186/s12859-018-2252-9] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 4.8] [Reference Citation Analysis]
221 Petrakis TG, Komseli E, Papaioannou M, Vougas K, Polyzos A, Myrianthopoulos V, Mikros E, Trougakos IP, Thanos D, Branzei D, Townsend P, Gorgoulis VG. Exploring and exploiting the systemic effects of deregulated replication licensing. Seminars in Cancer Biology 2016;37-38:3-15. [DOI: 10.1016/j.semcancer.2015.12.002] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 4.8] [Reference Citation Analysis]
222 Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat 2020;41:1979-98. [PMID: 32906200 DOI: 10.1002/humu.24106] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
223 Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat 2010;31:421-8. [PMID: 20052766 DOI: 10.1002/humu.21196] [Cited by in Crossref: 31] [Cited by in F6Publishing: 24] [Article Influence: 2.6] [Reference Citation Analysis]
224 Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms. J Neuromuscul Dis 2016;3:227-45. [PMID: 27854212 DOI: 10.3233/JND-150134] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
225 Shapiro JA. How Chaotic Is Genome Chaos? Cancers (Basel) 2021;13:1358. [PMID: 33802828 DOI: 10.3390/cancers13061358] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
226 Chen L, Zhou W, Zhang L, Zhang F. Genome architecture and its roles in human copy number variation. Genomics Inform 2014;12:136-44. [PMID: 25705150 DOI: 10.5808/GI.2014.12.4.136] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
227 Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 2010;86:462-70. [PMID: 20188345 DOI: 10.1016/j.ajhg.2010.02.001] [Cited by in Crossref: 62] [Cited by in F6Publishing: 62] [Article Influence: 5.2] [Reference Citation Analysis]
228 Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med 2011;13:447-52. [DOI: 10.1097/gim.0b013e31820605f5] [Cited by in Crossref: 35] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]
229 Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, Muzny DM, Tejomurtula A, Ross OA, Shaw C, Jankovic J, Bi W, Posey JE, Lupski JR, Shulman JM. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet 2020;6:e498. [PMID: 32802956 DOI: 10.1212/NXG.0000000000000498] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
230 Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet 2013;92:375-86. [PMID: 23472757 DOI: 10.1016/j.ajhg.2013.02.006] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 3.9] [Reference Citation Analysis]
231 Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet 2011;89:580-8. [PMID: 21981782 DOI: 10.1016/j.ajhg.2011.09.009] [Cited by in Crossref: 81] [Cited by in F6Publishing: 74] [Article Influence: 7.4] [Reference Citation Analysis]
232 Demchenko Y, Roschke A, Chen WD, Asmann Y, Bergsagel PL, Kuehl WM. Frequent occurrence of large duplications at reciprocal genomic rearrangement breakpoints in multiple myeloma and other tumors. Nucleic Acids Res 2016;44:8189-98. [PMID: 27353332 DOI: 10.1093/nar/gkw527] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
233 Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet 2014;94:462-9. [PMID: 24530202 DOI: 10.1016/j.ajhg.2014.01.017] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 4.0] [Reference Citation Analysis]
234 Srivastava K, Stiles DA, Wagner FF, Flegel WA. Two large deletions extending beyond either end of the RHD gene and their red cell phenotypes. J Hum Genet 2018;63:27-35. [PMID: 29215093 DOI: 10.1038/s10038-017-0345-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 0.6] [Reference Citation Analysis]
235 Karageorgiou C, Tarrío R, Rodríguez-Trelles F. The Cyclically Seasonal Drosophila subobscura Inversion O7 Originated From Fragile Genomic Sites and Relocated Immunity and Metabolic Genes. Front Genet 2020;11:565836. [PMID: 33193649 DOI: 10.3389/fgene.2020.565836] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
236 Komari CJ, Guttman AO, Carr SR, Trachtenberg TL, Orloff EA, Haas AV, Patrick AR, Chowdhary S, Waldman BC, Waldman AS. Alteration of genetic recombination and double-strand break repair in human cells by progerin expression. DNA Repair (Amst) 2020;96:102975. [PMID: 33010688 DOI: 10.1016/j.dnarep.2020.102975] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
237 Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 2015;97:691-707. [PMID: 26544804 DOI: 10.1016/j.ajhg.2015.10.003] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
238 Standfuß C, Parczyk J, Ruhnau J, Klein A. Genome reorganization in different cancer types: detection of cancer specific breakpoint regions. Mol Cytogenet 2019;12:25. [PMID: 31249626 DOI: 10.1186/s13039-019-0435-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
239 Chen JM, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP. Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol 2010;20:222-33. [PMID: 20541013 DOI: 10.1016/j.semcancer.2010.05.007] [Cited by in Crossref: 115] [Cited by in F6Publishing: 105] [Article Influence: 9.6] [Reference Citation Analysis]
240 Leffak M. Break-induced replication links microsatellite expansion to complex genome rearrangements. Bioessays 2017;39. [PMID: 28621832 DOI: 10.1002/bies.201700025] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.4] [Reference Citation Analysis]
241 Katju V. In with the old, in with the new: the promiscuity of the duplication process engenders diverse pathways for novel gene creation. Int J Evol Biol 2012;2012:341932. [PMID: 23008799 DOI: 10.1155/2012/341932] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 2.4] [Reference Citation Analysis]
242 Balzano E, Giunta S. Centromeres under Pressure: Evolutionary Innovation in Conflict with Conserved Function. Genes (Basel) 2020;11:E912. [PMID: 32784998 DOI: 10.3390/genes11080912] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
243 Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. Hum Mutat 2017;38:1355-9. [PMID: 28585352 DOI: 10.1002/humu.23274] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.6] [Reference Citation Analysis]
244 Chen L, Zhou W, Zhang C, Lupski JR, Jin L, Zhang F. CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet 2015;24:1574-83. [PMID: 25398944 DOI: 10.1093/hmg/ddu572] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.4] [Reference Citation Analysis]
245 Ramsden DA, Nussenzweig A. Mechanisms driving chromosomal translocations: lost in time and space. Oncogene 2021;40:4263-70. [PMID: 34103687 DOI: 10.1038/s41388-021-01856-9] [Reference Citation Analysis]
246 Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Human Molecular Genetics 2009;18:3579-93. [DOI: 10.1093/hmg/ddp306] [Cited by in Crossref: 117] [Cited by in F6Publishing: 114] [Article Influence: 9.0] [Reference Citation Analysis]
247 Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Ann Neurol 2012;71:84-92. [PMID: 22275255 DOI: 10.1002/ana.22658] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 2.7] [Reference Citation Analysis]
248 Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell 2019;176:1310-1324.e10. [PMID: 30827684 DOI: 10.1016/j.cell.2019.01.045] [Cited by in Crossref: 32] [Cited by in F6Publishing: 24] [Article Influence: 10.7] [Reference Citation Analysis]
249 Quinlan AR, Hall IM. Characterizing complex structural variation in germline and somatic genomes. Trends Genet 2012;28:43-53. [PMID: 22094265 DOI: 10.1016/j.tig.2011.10.002] [Cited by in Crossref: 72] [Cited by in F6Publishing: 59] [Article Influence: 6.5] [Reference Citation Analysis]
250 Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet 2012;131:1895-910. [PMID: 22890305 DOI: 10.1007/s00439-012-1216-9] [Cited by in Crossref: 25] [Cited by in F6Publishing: 23] [Article Influence: 2.5] [Reference Citation Analysis]
251 Bozsik A, Pócza T, Papp J, Vaszkó T, Butz H, Patócs A, Oláh E. Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center. Int J Mol Sci 2020;21:E4650. [PMID: 32629901 DOI: 10.3390/ijms21134650] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
252 Kanwal S, Choi B, Kim S, Koo H, Kim JY, Hyun YS, Lee HJ, Chung KW. Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12. Animal Cells and Systems 2011;15:301-9. [DOI: 10.1080/19768354.2011.611172] [Reference Citation Analysis]
253 Lupski JR. Genomic disorders ten years on. Genome Med 2009;1:42. [PMID: 19439022 DOI: 10.1186/gm42] [Cited by in Crossref: 108] [Cited by in F6Publishing: 97] [Article Influence: 8.3] [Reference Citation Analysis]
254 Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annu Rev Genet 2011;45:203-26. [PMID: 21854229 DOI: 10.1146/annurev-genet-102209-163544] [Cited by in Crossref: 253] [Cited by in F6Publishing: 201] [Article Influence: 23.0] [Reference Citation Analysis]
255 Palta P, Kaplinski L, Nagirnaja L, Veidenberg A, Möls M, Nelis M, Esko T, Metspalu A, Laan M, Remm M. Haplotype phasing and inheritance of copy number variants in nuclear families. PLoS One 2015;10:e0122713. [PMID: 25853576 DOI: 10.1371/journal.pone.0122713] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
256 Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 2010;86:892-903. [PMID: 20493460 DOI: 10.1016/j.ajhg.2010.05.001] [Cited by in Crossref: 102] [Cited by in F6Publishing: 90] [Article Influence: 8.5] [Reference Citation Analysis]
257 Nowrousian M, Teichert I, Masloff S, Kück U. Whole-Genome Sequencing of Sordaria macrospora Mutants Identifies Developmental Genes. G3 Genes|Genomes|Genetics 2012;2:261-70. [DOI: 10.1534/g3.111.001479] [Cited by in Crossref: 62] [Cited by in F6Publishing: 59] [Article Influence: 6.2] [Reference Citation Analysis]
258 Mosley TJ, Johnston HR, Cutler DJ, Zwick ME, Mulle JG. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders. BMC Med Genomics 2021;14:154. [PMID: 34107974 DOI: 10.1186/s12920-021-00999-8] [Reference Citation Analysis]
259 Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A 2013;161A:3182-6. [PMID: 23956205 DOI: 10.1002/ajmg.a.36178] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.6] [Reference Citation Analysis]
260 McCarroll SA. Copy number variation and human genome maps. Nat Genet 2010;42:365-6. [PMID: 20428091 DOI: 10.1038/ng0510-365] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 1.3] [Reference Citation Analysis]
261 Sabatinos SA, Forsburg SL. Managing Single-Stranded DNA during Replication Stress in Fission Yeast. Biomolecules 2015;5:2123-39. [PMID: 26393661 DOI: 10.3390/biom5032123] [Cited by in Crossref: 21] [Cited by in F6Publishing: 14] [Article Influence: 3.0] [Reference Citation Analysis]
262 Marcozzi A, Pellestor F, Kloosterman WP. The Genomic Characteristics and Origin of Chromothripsis. Methods Mol Biol 2018;1769:3-19. [PMID: 29564814 DOI: 10.1007/978-1-4939-7780-2_1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
263 Mizuno K, Lambert S, Baldacci G, Murray JM, Carr AM. Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism. Genes Dev 2009;23:2876-86. [PMID: 20008937 DOI: 10.1101/gad.1863009] [Cited by in Crossref: 97] [Cited by in F6Publishing: 96] [Article Influence: 7.5] [Reference Citation Analysis]
264 Yamanishi A, Yusa K, Horie K, Tokunaga M, Kusano K, Kokubu C, Takeda J. Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. Genome Res 2013;23:1462-73. [PMID: 23908384 DOI: 10.1101/gr.152744.112] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.4] [Reference Citation Analysis]
265 Zimmermann MA, Oldenburg J, Müller CR, Rost S. Characterization of duplication breakpoints in the factor VIII gene: Duplication breakpoints in F8. Journal of Thrombosis and Haemostasis 2010;8:2696-704. [DOI: 10.1111/j.1538-7836.2010.04040.x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 23] [Article Influence: 2.2] [Reference Citation Analysis]
266 Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010;31:1326-1342. [PMID: 20848651 DOI: 10.1002/humu.21360] [Cited by in Crossref: 189] [Cited by in F6Publishing: 173] [Article Influence: 15.8] [Reference Citation Analysis]
267 Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. Genome Med 2018;10:95. [PMID: 30526634 DOI: 10.1186/s13073-018-0606-6] [Cited by in Crossref: 52] [Cited by in F6Publishing: 43] [Article Influence: 13.0] [Reference Citation Analysis]
268 Minocherhomji S, Liu Y, He YD, Fielden MR. Biomarkers of genome instability in normal mammalian genomes following drug-induced replication stress. Environ Mol Mutagen 2020;61:770-85. [PMID: 32078182 DOI: 10.1002/em.22364] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
269 Gao Y, Ni X, Guo H, Su Z, Ba Y, Tong Z, Guo Z, Yao X, Chen X, Yin J, Yan Z, Guo L, Liu Y, Bai F, Xie XS, Zhang N. Single-cell sequencing deciphers a convergent evolution of copy number alterations from primary to circulating tumor cells. Genome Res 2017;27:1312-22. [PMID: 28487279 DOI: 10.1101/gr.216788.116] [Cited by in Crossref: 41] [Cited by in F6Publishing: 43] [Article Influence: 8.2] [Reference Citation Analysis]
270 Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 2011;146:889-903. [PMID: 21925314 DOI: 10.1016/j.cell.2011.07.042] [Cited by in Crossref: 288] [Cited by in F6Publishing: 271] [Article Influence: 26.2] [Reference Citation Analysis]
271 Alexander JL, Beagan K, Orr-Weaver TL, McVey M. Multiple mechanisms contribute to double-strand break repair at rereplication forks in Drosophila follicle cells. Proc Natl Acad Sci U S A 2016;113:13809-14. [PMID: 27849606 DOI: 10.1073/pnas.1617110113] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 3.0] [Reference Citation Analysis]
272 Evertts AG, Coller HA. Back to the origin: reconsidering replication, transcription, epigenetics, and cell cycle control. Genes Cancer 2012;3:678-96. [PMID: 23634256 DOI: 10.1177/1947601912474891] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.3] [Reference Citation Analysis]
273 Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W de Herder W, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 2015;22:353-67. [PMID: 25712922 DOI: 10.1530/ERC-15-0038] [Cited by in Crossref: 102] [Cited by in F6Publishing: 41] [Article Influence: 14.6] [Reference Citation Analysis]
274 Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-27. [PMID: 32906213 DOI: 10.1002/humu.24108] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
275 Yang L, Luquette LJ, Gehlenborg N, Xi R, Haseley PS, Hsieh CH, Zhang C, Ren X, Protopopov A, Chin L, Kucherlapati R, Lee C, Park PJ. Diverse mechanisms of somatic structural variations in human cancer genomes. Cell 2013;153:919-29. [PMID: 23663786 DOI: 10.1016/j.cell.2013.04.010] [Cited by in Crossref: 228] [Cited by in F6Publishing: 199] [Article Influence: 25.3] [Reference Citation Analysis]
276 Shapiro JA. What we have learned about evolutionary genome change in the past 7 decades. Biosystems 2022. [DOI: 10.1016/j.biosystems.2022.104669] [Reference Citation Analysis]
277 Hemmat M, Yang X, Chan P, McGough RA, Ross L, Mahon LW, Anguiano AL, Boris WT, Elnaggar MM, Wang JC, Strom CM, Boyar FZ. Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay. Mol Cytogenet 2014;7:50. [PMID: 25478007 DOI: 10.1186/1755-8166-7-50] [Cited by in Crossref: 2] [Article Influence: 0.3] [Reference Citation Analysis]
278 Dorshorst B, Molin AM, Rubin CJ, Johansson AM, Strömstedt L, Pham MH, Chen CF, Hallböök F, Ashwell C, Andersson L. A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken. PLoS Genet 2011;7:e1002412. [PMID: 22216010 DOI: 10.1371/journal.pgen.1002412] [Cited by in Crossref: 92] [Cited by in F6Publishing: 72] [Article Influence: 8.4] [Reference Citation Analysis]
279 Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet 2009;10:551-64. [PMID: 19597530 DOI: 10.1038/nrg2593] [Cited by in Crossref: 766] [Cited by in F6Publishing: 694] [Article Influence: 58.9] [Reference Citation Analysis]
280 Löytynoja A, Goldman N. Short template switch events explain mutation clusters in the human genome. Genome Res 2017;27:1039-49. [PMID: 28385709 DOI: 10.1101/gr.214973.116] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
281 Halder A, Kumar P, Jain M, Iyer VK. Copy number variations in testicular maturation arrest. Andrology 2017;5:460-72. [DOI: 10.1111/andr.12330] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.2] [Reference Citation Analysis]
282 Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F. Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Hum Mol Genet 2013;22:749-56. [PMID: 23161748 DOI: 10.1093/hmg/dds482] [Cited by in Crossref: 10] [Cited by in F6Publishing: 12] [Article Influence: 1.0] [Reference Citation Analysis]
283 Kehrer-sawatzki H, Cooper DN. NF1 Microdeletions and Their Underlying Mutational Mechanisms. In: Upadhyaya M, Cooper DN, editors. Neurofibromatosis Type 1. Berlin: Springer Berlin Heidelberg; 2012. pp. 187-209. [DOI: 10.1007/978-3-642-32864-0_14] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 0.9] [Reference Citation Analysis]
284 Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 2017;45:1633-48. [PMID: 27980096 DOI: 10.1093/nar/gkw1237] [Cited by in Crossref: 21] [Cited by in F6Publishing: 52] [Article Influence: 4.2] [Reference Citation Analysis]
285 Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2015;167A:111-22. [PMID: 25425167 DOI: 10.1002/ajmg.a.36807] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 1.6] [Reference Citation Analysis]
286 Wayhelova M, Smetana J, Vallova V, Hladilkova E, Filkova H, Hanakova M, Vilemova M, Nikolova P, Gromesova B, Gaillyova R, Kuglik P. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay. BMC Med Genomics 2019;12:111. [PMID: 31337399 DOI: 10.1186/s12920-019-0559-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
287 Lawson AR, Hindley GF, Forshew T, Tatevossian RG, Jamie GA, Kelly GP, Neale GA, Ma J, Jones TA, Ellison DW, Sheer D. RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology. Genome Res 2011;21:505-14. [PMID: 21393386 DOI: 10.1101/gr.115782.110] [Cited by in Crossref: 47] [Cited by in F6Publishing: 44] [Article Influence: 4.3] [Reference Citation Analysis]
288 Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 2016;17:224-38. [PMID: 26924765 DOI: 10.1038/nrg.2015.25] [Cited by in Crossref: 339] [Cited by in F6Publishing: 260] [Article Influence: 56.5] [Reference Citation Analysis]
289 Zhu J, Zhang F, Du M, Zhang P, Fu S, Wang L. Molecular characterization of cell-free eccDNAs in human plasma. Sci Rep 2017;7:10968. [PMID: 28887493 DOI: 10.1038/s41598-017-11368-w] [Cited by in Crossref: 23] [Cited by in F6Publishing: 25] [Article Influence: 4.6] [Reference Citation Analysis]
290 Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Genome-wide copy number variations in a large cohort of bantu African children. BMC Med Genomics 2021;14:129. [PMID: 34001112 DOI: 10.1186/s12920-021-00978-z] [Reference Citation Analysis]
291 Onozawa M, Zhang Z, Kim YJ, Goldberg L, Varga T, Bergsagel PL, Kuehl WM, Aplan PD. Repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome. Proc Natl Acad Sci U S A 2014;111:7729-34. [PMID: 24821809 DOI: 10.1073/pnas.1321889111] [Cited by in Crossref: 44] [Cited by in F6Publishing: 41] [Article Influence: 5.5] [Reference Citation Analysis]
292 Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer 2016;23:221-33. [PMID: 26935837 DOI: 10.1530/ERC-16-0082] [Cited by in Crossref: 53] [Cited by in F6Publishing: 17] [Article Influence: 8.8] [Reference Citation Analysis]
293 Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene 2014;537:279-84. [PMID: 24378232 DOI: 10.1016/j.gene.2013.12.045] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 2.2] [Reference Citation Analysis]
294 Hills SA, Diffley JF. DNA replication and oncogene-induced replicative stress. Curr Biol 2014;24:R435-44. [PMID: 24845676 DOI: 10.1016/j.cub.2014.04.012] [Cited by in Crossref: 247] [Cited by in F6Publishing: 219] [Article Influence: 35.3] [Reference Citation Analysis]
295 Maiti S, Kumar KH, Castellani CA, O’Reilly R, Singh SM. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One. 2011;6:e17125. [PMID: 21399695 DOI: 10.1371/journal.pone.0017125] [Cited by in Crossref: 54] [Cited by in F6Publishing: 42] [Article Influence: 4.9] [Reference Citation Analysis]
296 Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med 2011;13:582-92. [PMID: 21659953 DOI: 10.1097/GIM.0b013e3182106775] [Cited by in Crossref: 39] [Cited by in F6Publishing: 29] [Article Influence: 3.5] [Reference Citation Analysis]
297 Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 2010;42:385-91. [PMID: 20364136 DOI: 10.1038/ng.564] [Cited by in Crossref: 168] [Cited by in F6Publishing: 164] [Article Influence: 14.0] [Reference Citation Analysis]
298 Sassi FMC, Oliveira EA, Bertollo LAC, Nirchio M, Hatanaka T, Marinho MMF, Moreira-Filho O, Aroutiounian R, Liehr T, Al-Rikabi ABH, Cioffi MB. Chromosomal Evolution and Evolutionary Relationships of Lebiasina Species (Characiformes, Lebiasinidae). Int J Mol Sci 2019;20:E2944. [PMID: 31208145 DOI: 10.3390/ijms20122944] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
299 Sahoo T, Wang JC, Elnaggar MM, Sanchez-Lara P, Ross LP, Mahon LW, Hafezi K, Deming A, Hinman L, Bruno Y, Bartley JA, Liehr T, Anguiano A, Jones M. Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. Eur J Hum Genet 2015;23:61-6. [PMID: 24713661 DOI: 10.1038/ejhg.2014.53] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 2.3] [Reference Citation Analysis]
300 de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat 2013;34:1439-48. [PMID: 23893877 DOI: 10.1002/humu.22387] [Cited by in Crossref: 87] [Cited by in F6Publishing: 77] [Article Influence: 9.7] [Reference Citation Analysis]
301 Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol 2012;10:e1001288. [PMID: 22448145 DOI: 10.1371/journal.pbio.1001288] [Cited by in Crossref: 117] [Cited by in F6Publishing: 109] [Article Influence: 11.7] [Reference Citation Analysis]
302 Batcho AA, Sarwar MB, Tariq L, Rashid B, Hassan S, Husnain T. Identification and characterisation of heat shock protein gene (HSP70) family and its expression in Agave sisalana under heat stress. The Journal of Horticultural Science and Biotechnology 2020;95:470-82. [DOI: 10.1080/14620316.2019.1685412] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]