PMC Links for Protein (Select 1677531713) - PMC

Select item 55017741.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010

PMCID:: PMC5501774

Abstract Article PDF–1.9M

Select item 50533562.

Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk

Daniel Chubb, Niels Weinhold, Peter Broderick, Bowang Chen, David C Johnson, Asta Försti, Jayaram Vijayakrishnan, Gabriele Migliorini, Sara E Dobbins, Amy Holroyd, Dirk Hose, Brian A Walker, Faith E Davies, Walter A Gregory, Graham H Jackson, Julie A Irving, Guy Pratt, Chris Fegan, James AL Fenton, Kai Neben, Per Hoffmann, Markus M Nöthen, Thomas W Mühleisen, Lewin Eisele, Fiona M Ross, Christian Straka, Hermann Einsele, Christian Langer, Elisabeth Dörner, James M Allan, Anna Jauch, Gareth J Morgan, Kari Hemminki, Richard S Houlston, Hartmut Goldschmidt

Nat Genet. Author manuscript; available in PMC 2016 Oct 6.

Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1221–1225. Published online 2013 Aug 18. doi: 10.1038/ng.2733

PMCID:: PMC5053356

Abstract Article PDF–750K

Select item 41710533.

Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens

Rohina Rubicz, Robert Yolken, Armin Alaedini, Eugene Drigalenko, Jac C. Charlesworth, Melanie A. Carless, Emily G. Severance, Bogdana Krivogorsky, Thomas D. Dyer, Jack W. Kent, Jr., Joanne E. Curran, Matthew P. Johnson, Shelley A. Cole, Laura Almasy, Eric K. Moses, John Blangero, Harald H.H. Göring

Genet Epidemiol. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Genet Epidemiol. 2014 Jul; 38(5): 439–446. doi: 10.1002/gepi.21817

PMCID:: PMC4171053

Abstract Article PDF–398K

Select item 38123244.

Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans

J L Del-Aguila, A L Beitelshees, R M Cooper-DeHoff, A B Chapman, J G Gums, K Bailey, Y Gong, S T Turner, J A Johnson, E Boerwinkle

Pharmacogenomics J. 2014 Feb; 14(1): 35–40. Published online 2013 Feb 12. doi: 10.1038/tpj.2013.3

PMCID:: PMC3812324

Abstract Article PDF–662K

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