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For: 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]
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14 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]
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22 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]
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24 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]
25 Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med 2019;11:68. [PMID: 31694722 DOI: 10.1186/s13073-019-0675-1] [Cited by in Crossref: 39] [Cited by in F6Publishing: 30] [Article Influence: 13.0] [Reference Citation Analysis]
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28 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]
29 Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014;22:1071-1076. [PMID: 24424125 DOI: 10.1038/ejhg.2013.302] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 3.1] [Reference Citation Analysis]
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31 Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Sci Transl Med 2012;4:163ra158. [PMID: 23220634 DOI: 10.1126/scitranslmed.3004430] [Cited by in Crossref: 37] [Cited by in F6Publishing: 35] [Article Influence: 4.1] [Reference Citation Analysis]
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34 Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A 2020;182:1143-51. [PMID: 32125084 DOI: 10.1002/ajmg.a.61539] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
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39 Li L, Li H, Wang L, Bu T, Liu S, Mao B, Cheng CY. A local regulatory network in the testis mediated by laminin and collagen fragments that supports spermatogenesis. Crit Rev Biochem Mol Biol 2021;56:236-54. [PMID: 33761828 DOI: 10.1080/10409238.2021.1901255] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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50 Newman S, Hermetz KE, Weckselblatt B, Rudd MK. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet 2015;96:208-20. [PMID: 25640679 DOI: 10.1016/j.ajhg.2014.12.017] [Cited by in Crossref: 86] [Cited by in F6Publishing: 78] [Article Influence: 12.3] [Reference Citation Analysis]
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