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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James T Robinson, Moran N Cabili, Irit Gat-Viks, Edward Kelliher, Riza Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vylet'al, Corinne Antignac, Mitchell Guttman, Robert E Handsaker, Danielle Perrin, Scott Steelman, Snaevar Sigurdsson, Steven J Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd Green, Elizabeth Rossin, Michael C Zody, Ramnik J Xavier, Martin R Pollak, Seth L Alper, Kerstin Lindblad-Toh, Stacey Gabriel, P Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J Bleyer, Eric S Lander, Mark J Daly

Nature Genetics 2013

Integrated Computational and Experimental Analysis of the Neuroendocrine Transcriptome in Genetic Hypertension Identifies Novel Control Points for the Cardio-Metabolic Syndrome

Integrated Computational and Experimental Analysis of the Neuroendocrine Transcriptome in Genetic Hypertension Identifies Novel Control Points for the Cardio-Metabolic Syndrome

Ryan S. Friese, Chun Ye, Caroline M. Nievergelt, Andrew J. Schork, Nitish R. Mahapatra, Fangwen Rao, Philip S. Napolitan, Jill Waalen, Geert W. Schmid-Schönbein, Eleazar Eskin, Daniel T. O'Connor

Circulation: Cardiovascular Genetics 2012

Assessing computational tools for the discovery of transcription factor binding sites

Assessing computational tools for the discovery of transcription factor binding sites

Martin Tompa, Nan Li, Timothy L Bailey, George M Church, Bart De Moor, Eleazar Eskin, Alexander V Favorov, Martin C Frith, Yutao Fu, W James Kent, Vsevolod J Makeev, Andrei A Mironov, William Stafford Noble, Giulio Pavesi, Graziano Pesole, Mireille Régnier, Nicolas Simonis, Saurabh Sinha, Gert Thijs, Jacques Van Helden, Mathias Vandenbogaert, Zhiping Weng, Christopher Workman, Chun Ye, Zhou Zhu

Nature Biotechnology 2005