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Identification of novel functional elements in the human genome.
Lian Z, Euskirchen G, Rinn J, Martone R, Bertone P, Hartman S, Royce T, Nelson K, Sayward F, Luscombe N, Yang J, Li JL, Miller P, Urban AE, Gerstein M, Weissman S, Snyder M. Lian Z, et al. Among authors: urban ae. Cold Spring Harb Symp Quant Biol. 2003;68:317-22. doi: 10.1101/sqb.2003.68.317. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338632 No abstract available.
Paired-end mapping reveals extensive structural variation in the human genome.
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders AC, Chi J, Yang F, Carter NP, Hurles ME, Weissman SM, Harkins TT, Gerstein MB, Egholm M, Snyder M. Korbel JO, et al. Among authors: urban ae. Science. 2007 Oct 19;318(5849):420-6. doi: 10.1126/science.1149504. Epub 2007 Sep 27. Science. 2007. PMID: 17901297 Free PMC article.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. Korbel JO, et al. Among authors: urban ae. Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13. Proc Natl Acad Sci U S A. 2009. PMID: 19597142 Free PMC article.
Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. Mills RE, et al. Among authors: urban ae. Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708. Nature. 2011. PMID: 21293372 Free PMC article.
Extensive genetic variation in somatic human tissues.
O'Huallachain M, Karczewski KJ, Weissman SM, Urban AE, Snyder MP. O'Huallachain M, et al. Among authors: urban ae. Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18018-23. doi: 10.1073/pnas.1213736109. Epub 2012 Oct 5. Proc Natl Acad Sci U S A. 2012. PMID: 23043118 Free PMC article.
128 results