Now showing items 1-2 of 2

    • Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing 

      Kirby, Andrew; Gnirke, Andreas; Jaffe, David B.; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T.; Cabili, Moran N.; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet’al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E.; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J.; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C.; Xavier, Ramnik J.; Pollak, Martin R.; Alper, Seth L.; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P. Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J.; Lander, Eric S.; Daly, Mark J. (2014)
      While genetic lesions responsible for some Mendelian disorders can be rapidly discovered through massively parallel sequencing (MPS) of whole genomes or exomes, not all diseases readily yield to such efforts. We describe ...
    • The Xist lncRNA directly interacts with SHARP to silence transcription through HDAC3 

      McHugh, Colleen A.; Chen, Chun-Kan; Chow, Amy; Surka, Christine F.; Tran, Christina; McDonel, Patrick; Pandya-Jones, Amy; Blanco, Mario; Burghard, Christina; Moradian, Annie; Sweredoski, Michael J.; Shishkin, Alexander A.; Su, Julia; Lander, Eric S.; Hess, Sonja; Plath, Kathrin; Guttman, Mitchell (2015)
      Many long non-coding RNAs (lncRNAs) affect gene expression1, but the mechanisms by which they act are still largely unknown2. One of the best-studied lncRNAs is Xist, which is required for transcriptional silencing of one ...