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Page 1
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE. Dennis MY, et al. Among authors: malig m. Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033. Epub 2012 May 3. Cell. 2012. PMID: 22559943 Free PMC article.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE. Antonacci F, et al. Among authors: malig m. Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19. Nat Genet. 2014. PMID: 25326701 Free PMC article.
Characterization of missing human genome sequences and copy-number polymorphic insertions.
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, Kaul R, Wilson RK, Bruhn L, Eichler EE. Kidd JM, et al. Among authors: malig m. Nat Methods. 2010 May;7(5):365-71. doi: 10.1038/nmeth.1451. Nat Methods. 2010. PMID: 20440878 Free PMC article.
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. Antonacci F, et al. Among authors: malig m. Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22. Nat Genet. 2010. PMID: 20729854 Free PMC article.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Among authors: malig m. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.
Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, Shendure J, Wilson RK, Eichler EE. Ventura M, et al. Among authors: malig m. Genome Res. 2011 Oct;21(10):1640-9. doi: 10.1101/gr.124461.111. Epub 2011 Jun 17. Genome Res. 2011. PMID: 21685127 Free PMC article.
45 results