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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Maggiolini FAM, et al. Among authors: eichler ee. PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30917130 Free PMC article.
Recurrent sites for new centromere seeding.
Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Björck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M. Ventura M, et al. Among authors: eichler ee. Genome Res. 2004 Sep;14(9):1696-703. doi: 10.1101/gr.2608804. Genome Res. 2004. PMID: 15342555 Free PMC article.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Sharp AJ, et al. Among authors: eichler ee. Nat Genet. 2006 Sep;38(9):1038-42. doi: 10.1038/ng1862. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906162
Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs.
Cardone MF, Alonso A, Pazienza M, Ventura M, Montemurro G, Carbone L, de Jong PJ, Stanyon R, D'Addabbo P, Archidiacono N, She X, Eichler EE, Warburton PE, Rocchi M. Cardone MF, et al. Among authors: eichler ee. Genome Biol. 2006;7(10):R91. doi: 10.1186/gb-2006-7-10-r91. Epub 2006 Oct 13. Genome Biol. 2006. PMID: 17040560 Free PMC article.
Evolutionary formation of new centromeres in macaque.
Ventura M, Antonacci F, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M. Ventura M, et al. Among authors: eichler ee. Science. 2007 Apr 13;316(5822):243-6. doi: 10.1126/science.1140615. Science. 2007. PMID: 17431171
Mapping and sequencing of structural variation from eight human genomes.
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. Kidd JM, et al. Among authors: eichler ee. Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862. Nature. 2008. PMID: 18451855 Free PMC article.
610 results