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Altered neuronal network and rescue in a human MECP2 duplication model.
Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Espuny-Camacho I, Pasciuto E, Vanderhaeghen P, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, Lupski JR, Van Esch H, Muotri AR. Nageshappa S, et al. Among authors: ramocki mb. Mol Psychiatry. 2016 Feb;21(2):178-88. doi: 10.1038/mp.2015.128. Epub 2015 Sep 8. Mol Psychiatry. 2016. PMID: 26347316 Free PMC article.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
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. Carvalho CM, et al. Among authors: ramocki mb. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26. Hum Mol Genet. 2009. PMID: 19324899 Free PMC article.
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: ramocki mb. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.
Replicative mechanisms for CNV formation are error prone.
Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: ramocki mb. Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056715 Free PMC article.
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Campbell IM, et al. Among authors: ramocki mb. PLoS Genet. 2013;9(9):e1003797. doi: 10.1371/journal.pgen.1003797. Epub 2013 Sep 26. PLoS Genet. 2013. PMID: 24086149 Free PMC article.
The MECP2 duplication syndrome.
Ramocki MB, Tavyev YJ, Peters SU. Ramocki MB, et al. Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184. Am J Med Genet A. 2010. PMID: 20425814 Free PMC article. Review.
38 results