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Page 1
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.
Tachmazidou I, Hatzikotoulas K, Southam L, Esparza-Gordillo J, Haberland V, Zheng J, Johnson T, Koprulu M, Zengini E, Steinberg J, Wilkinson JM, Bhatnagar S, Hoffman JD, Buchan N, Süveges D; arcOGEN Consortium; Yerges-Armstrong L, Smith GD, Gaunt TR, Scott RA, McCarthy LC, Zeggini E. Tachmazidou I, et al. Nat Genet. 2019 Feb;51(2):230-236. doi: 10.1038/s41588-018-0327-1. Epub 2019 Jan 21. Nat Genet. 2019. PMID: 30664745 Free PMC article.
Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.
Boraska V, Day-Williams A, Franklin CS, Elliott KS, Panoutsopoulou K, Tachmazidou I, Albrecht E, Bandinelli S, Beilin LJ, Bochud M, Cadby G, Ernst F, Evans DM, Hayward C, Hicks AA, Huffman J, Huth C, James AL, Klopp N, Kolcic I, Kutalik Z, Lawlor DA, Musk AW, Pehlic M, Pennell CE, Perry JR, Peters A, Polasek O, St Pourcain B, Ring SM, Salvi E, Schipf S, Staessen JA, Teumer A, Timpson N, Vitart V, Warrington NM, Yaghootkar H, Zemunik T, Zgaga L, An P, Anttila V, Borecki IB, Holmen J, Ntalla I, Palotie A, Pietiläinen KH, Wedenoja J, Winsvold BS, Dedoussis GV, Kaprio J, Province MA, Zwart JA, Burnier M, Campbell H, Cusi D, Smith GD, Frayling TM, Gieger C, Palmer LJ, Pramstaller PP, Rudan I, Völzke H, Wichmann HE, Wright AF, Zeggini E. Boraska V, et al. Among authors: tachmazidou i. PLoS One. 2012;7(3):e31369. doi: 10.1371/journal.pone.0031369. Epub 2012 Mar 29. PLoS One. 2012. PMID: 22479309 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.
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population.
Choong E, Quteineh L, Cardinaux JR, Gholam-Rezaee M, Vandenberghe F, Dobrinas M, Bondolfi G, Etter M, Holzer L, Magistretti P, von Gunten A, Preisig M, Vollenweider P, Beckmann JS, Pralong FP, Waeber G, Kutalik Z, Conus P, Bochud M, Eap CB; ODEX team. Choong E, et al. JAMA Psychiatry. 2013 Oct;70(10):1011-9. doi: 10.1001/jamapsychiatry.2013.187. JAMA Psychiatry. 2013. PMID: 23925723 Free article.
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
Speed D, Hoggart C, Petrovski S, Tachmazidou I, Coffey A, Jorgensen A, Eleftherohorinou H, De Iorio M, Todaro M, De T, Smith D, Smith PE, Jackson M, Cooper P, Kellett M, Howell S, Newton M, Yerra R, Tan M, French C, Reuber M, Sills GE, Chadwick D, Pirmohamed M, Bentley D, Scheffer I, Berkovic S, Balding D, Palotie A, Marson A, O'Brien TJ, Johnson MR. Speed D, et al. Among authors: tachmazidou i. Hum Mol Genet. 2014 Jan 1;23(1):247-58. doi: 10.1093/hmg/ddt403. Epub 2013 Aug 19. Hum Mol Genet. 2014. PMID: 23962720 Free PMC article.
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR, Xifara DK, Matchan A, Hatzikotoulas K, Rayner NW, Chen Y, Pollin TI, O'Connell JR, Yerges-Armstrong LM, Kiagiadaki C, Panoutsopoulou K, Schwartzentruber J, Moutsianas L; UK10K consortium; Tsafantakis E, Tyler-Smith C, McVean G, Xue Y, Zeggini E. Tachmazidou I, et al. Nat Commun. 2013;4:2872. doi: 10.1038/ncomms3872. Nat Commun. 2013. PMID: 24343240 Free PMC article.
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L; GCAN; WTCCC3; Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I; GCAN; WTCCC3. Huckins LM, et al. Among authors: tachmazidou i. Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549058 Free PMC article.
80 results