PMC Links for GEO Profiles (Select 112582019) - PMC

Select item 41571461.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai T. Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas F.C. Morante, George C. Gabriel, Kristi L. Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian M. Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, UK10K Consortium, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia W. Lo, Heymut Omran, Hannah M. Mitchison

Am J Hum Genet. 2014 Sep 4; 95(3): 257–274. doi: 10.1016/j.ajhg.2014.08.005

PMCID:: PMC4157146

Abstract Article PDF–3.2M

Select item 35424582.

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Michael R. Knowles, Margaret W. Leigh, Lawrence E. Ostrowski, Lu Huang, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Jonathan S. Berg, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Margaret Rosenfeld, Scott D. Sagel, Carlos E. Milla, Kenneth N. Olivier, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Maimoona A. Zariwala, the Genetic Disorders of Mucociliary Clearance Consortium

Am J Hum Genet. 2013 Jan 10; 92(1): 99–106. doi: 10.1016/j.ajhg.2012.11.003

PMCID:: PMC3542458

Abstract Article PDF–768K

Select item 35424553.

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M.A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter J. Scambler, Eddie M.K. Chung, UK10K, Gerard Pals, Hannah M. Mitchison

Am J Hum Genet. 2013 Jan 10; 92(1): 88–98. doi: 10.1016/j.ajhg.2012.11.002

PMCID:: PMC3542455

Abstract Article PDF–1.1M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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