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Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.
Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT. Guastadisegni MC, et al. Among authors: roberto r. Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22201559
Molecular refinement of gibbon genome rearrangements.
Roberto R, Capozzi O, Wilson RK, Mardis ER, Lomiento M, Tuzun E, Cheng Z, Mootnick AR, Archidiacono N, Rocchi M, Eichler EE. Roberto R, et al. Genome Res. 2007 Feb;17(2):249-57. doi: 10.1101/gr.6052507. Epub 2006 Dec 21. Genome Res. 2007. PMID: 17185643 Free PMC article.
DDX11L: a novel transcript family emerging from human subtelomeric regions.
Costa V, Casamassimi A, Roberto R, Gianfrancesco F, Matarazzo MR, D'Urso M, D'Esposito M, Rocchi M, Ciccodicola A. Costa V, et al. Among authors: roberto r. BMC Genomics. 2009 May 28;10:250. doi: 10.1186/1471-2164-10-250. BMC Genomics. 2009. PMID: 19476624 Free PMC article.
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M; NISC Comparative Sequencing Program; Green ED, Archidiacano N, Eichler EE. She X, et al. Among authors: roberto r. Genome Res. 2006 May;16(5):576-83. doi: 10.1101/gr.4949406. Epub 2006 Apr 10. Genome Res. 2006. PMID: 16606706 Free PMC article.
139 results