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The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses.
Faber BG, Frysz M, Boer CG, Evans DS, Ebsim R, Flynn KA, Lundberg M, Southam L, Hartley A, Saunders FR, Lindner C, Gregory JS, Aspden RM, Lane NE, Harvey NC, Evans DM, Zeggini E, Davey Smith G, Cootes T, Van Meurs J, Kemp JP, Tobias JH. Faber BG, et al. Among authors: davey smith g. EBioMedicine. 2023 Sep;95:104759. doi: 10.1016/j.ebiom.2023.104759. Epub 2023 Aug 22. EBioMedicine. 2023. PMID: 37619450 Free PMC article.
A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults.
Faber BG, Frysz M, Hartley AE, Ebsim R, Boer CG, Saunders FR, Gregory JS, Aspden RM, Harvey NC, Southam L, Giles W, Le Maitre CL, Wilkinson JM, van Meurs JBJ, Zeggini E, Cootes T, Lindner C, Kemp JP, Davey Smith G, Tobias JH. Faber BG, et al. Among authors: davey smith g. Arthritis Rheumatol. 2023 Jun;75(6):900-909. doi: 10.1002/art.42451. Epub 2023 Apr 9. Arthritis Rheumatol. 2023. PMID: 36662418 Free PMC article.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
The UK10K project identifies rare variants in health and disease.
UK10K Consortium; Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. UK10K Consortium, et al. Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14. Nature. 2015. PMID: 26367797 Free PMC article.
Managing clinically significant findings in research: the UK10K example.
Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T; UK 10K. Kaye J, et al. Eur J Hum Genet. 2014 Sep;22(9):1100-4. doi: 10.1038/ejhg.2013.290. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424120 Free PMC article.
Estimating telomere length from whole genome sequence data.
Ding Z, Mangino M, Aviv A, Spector T, Durbin R; UK10K Consortium. Ding Z, et al. Nucleic Acids Res. 2014 May;42(9):e75. doi: 10.1093/nar/gku181. Epub 2014 Mar 7. Nucleic Acids Res. 2014. PMID: 24609383 Free PMC article.
Migraine, chronic kidney disease and kidney function: observational and genetic analyses.
Zhang W, Zhang L, Yang L, Xiao C, Wu X, Yan P, Cui H, Yang C, Zhu J, Wu X, Tang M, Wang Y, Chen L, Liu Y, Zou Y, Zhang L, Yang C, Yao Y, Li J, Liu Z, Zhang B, Jiang X; International Headache Genetics Consortium. Zhang W, et al. Hum Genet. 2023 Aug;142(8):1185-1200. doi: 10.1007/s00439-023-02575-9. Epub 2023 Jun 12. Hum Genet. 2023. PMID: 37306871 Free PMC article.
1,154 results