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For: Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006;15:2250-2265. [PMID: 16774974 DOI: 10.1093/hmg/ddl150] [Cited by in Crossref: 59] [Cited by in F6Publishing: 59] [Article Influence: 3.7] [Reference Citation Analysis]
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6 Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010;87:173-88. [PMID: 20655035 DOI: 10.1016/j.ajhg.2010.06.017] [Cited by in Crossref: 88] [Cited by in F6Publishing: 76] [Article Influence: 7.3] [Reference Citation Analysis]
7 van Binsbergen E. Origins and Breakpoint Analyses of Copy Number Variations: Up Close and Personal. Cytogenet Genome Res 2011;135:271-6. [DOI: 10.1159/000330267] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
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9 Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco M, Devescovi R, Rossi A, Uziel G, Filocamo M. Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. Clinical Genetics 2008;73:279-87. [DOI: 10.1111/j.1399-0004.2007.00961.x] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.1] [Reference Citation Analysis]
10 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]
11 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]
12 Lee JA, Carvalho CM, Lupski JR. A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders. Cell 2007;131:1235-47. [DOI: 10.1016/j.cell.2007.11.037] [Cited by in Crossref: 575] [Cited by in F6Publishing: 561] [Article Influence: 38.3] [Reference Citation Analysis]
13 Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet 2007;121:697-709. [PMID: 17457615 DOI: 10.1007/s00439-007-0359-6] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 1.2] [Reference Citation Analysis]
14 Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007;80:633-49. [PMID: 17357070 DOI: 10.1086/512864] [Cited by in Crossref: 248] [Cited by in F6Publishing: 223] [Article Influence: 16.5] [Reference Citation Analysis]
15 Cardoso AR, Oliveira M, Amorim A, Azevedo L. Major influence of repetitive elements on disease-associated copy number variants (CNVs). Hum Genomics 2016;10:30. [PMID: 27663310 DOI: 10.1186/s40246-016-0088-9] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
16 Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto). 2013;53:3-8. [PMID: 23480352 DOI: 10.1111/cga.12005] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
17 Gu W, Lupski JR. CNV and nervous system diseases--what's new? Cytogenet Genome Res 2008;123:54-64. [PMID: 19287139 DOI: 10.1159/000184692] [Cited by in Crossref: 27] [Cited by in F6Publishing: 27] [Article Influence: 2.1] [Reference Citation Analysis]
18 Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 2008;18:847-58. [PMID: 18385275 DOI: 10.1101/gr.075903.107] [Cited by in Crossref: 93] [Cited by in F6Publishing: 92] [Article Influence: 6.6] [Reference Citation Analysis]
19 Gasmi L, Baek S, Kim JC, Kim S, Lee MR, Park SE, Shin TY, Lee SJ, Parker BL, Kim JS. Gene diversity explains variation in biological features of insect killing fungus, Beauveria bassiana. Sci Rep 2021;11:91. [PMID: 33420123 DOI: 10.1038/s41598-020-78910-1] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
20 Gaudio DD, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Craig Chinault A, Beaudet AL, Eng CM. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008;29:1100-7. [DOI: 10.1002/humu.20841] [Cited by in Crossref: 72] [Cited by in F6Publishing: 63] [Article Influence: 5.1] [Reference Citation Analysis]
21 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]
22 Hall IM, Quinlan AR. Detection and interpretation of genomic structural variation in mammals. Methods Mol Biol 2012;838:225-48. [PMID: 22228015 DOI: 10.1007/978-1-61779-507-7_11] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 0.9] [Reference Citation Analysis]
23 Clark K, Sakowski L, Sperle K, Banser L, Landel CP, Bessert DA, Skoff RP, Hobson GM. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication. J Neurosci 2013;33:11788-99. [PMID: 23864668 DOI: 10.1523/JNEUROSCI.1336-13.2013] [Cited by in Crossref: 20] [Cited by in F6Publishing: 14] [Article Influence: 2.2] [Reference Citation Analysis]
24 Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 2009;18:2188-203. [PMID: 19324899 DOI: 10.1093/hmg/ddp151] [Cited by in Crossref: 136] [Cited by in F6Publishing: 134] [Article Influence: 10.5] [Reference Citation Analysis]
25 Barber JCK, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 2008;16:18-27. [DOI: 10.1038/sj.ejhg.5201932] [Cited by in Crossref: 52] [Cited by in F6Publishing: 52] [Article Influence: 3.5] [Reference Citation Analysis]
26 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]
27 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]
28 Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM. A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. Am J Med Genet A 2009;149A:1257-62. [PMID: 19449402 DOI: 10.1002/ajmg.a.32827] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
29 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]
30 Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 2010;32:171-179. [PMID: 19328639 DOI: 10.1016/j.braindev.2009.02.011] [Cited by in Crossref: 25] [Cited by in F6Publishing: 24] [Article Influence: 1.9] [Reference Citation Analysis]
31 Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet 2012;81:532-41. [PMID: 21623770 DOI: 10.1111/j.1399-0004.2011.01716.x] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 1.8] [Reference Citation Analysis]
32 Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain 2016;139:2844-54. [PMID: 27604308 DOI: 10.1093/brain/aww221] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 4.4] [Reference Citation Analysis]
33 Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis 2011;6:40. [PMID: 21679407 DOI: 10.1186/1750-1172-6-40] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 2.1] [Reference Citation Analysis]
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35 Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers H, Moraine C, Chelly J, Fryns J, Marynen P, Gecz J, Turner G. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 2007;121:539-47. [DOI: 10.1007/s00439-007-0343-1] [Cited by in Crossref: 33] [Cited by in F6Publishing: 33] [Article Influence: 2.2] [Reference Citation Analysis]
36 Xie X, Chen C, Liang Q, Wu X, Wang X, Wu W, Ding Q. Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively. Haemophilia 2019;25:475-83. [DOI: 10.1111/hae.13704] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
37 Cooke SL, Northup JK, Champaige NL, Zinser W, Edwards PA, Lockhart LH, Velagaleti GV. Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement. Am J Med Genet A. 2008;146A:1166-1172. [PMID: 18302246 DOI: 10.1002/ajmg.a.32248] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 0.7] [Reference Citation Analysis]
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42 Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet. 2012;57:580-586. [PMID: 22695888 DOI: 10.1038/jhg.2012.71] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
43 Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet 2007;39:S43-7. [PMID: 17597781 DOI: 10.1038/ng2084] [Cited by in Crossref: 299] [Cited by in F6Publishing: 267] [Article Influence: 19.9] [Reference Citation Analysis]
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