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Page 1
The African Genome Variation Project shapes medical genetics in Africa.
Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I, Hatzikotoulas K, Karthikeyan S, Iles L, Pollard MO, Choudhury A, Ritchie GR, Xue Y, Asimit J, Nsubuga RN, Young EH, Pomilla C, Kivinen K, Rockett K, Kamali A, Doumatey AP, Asiki G, Seeley J, Sisay-Joof F, Jallow M, Tollman S, Mekonnen E, Ekong R, Oljira T, Bradman N, Bojang K, Ramsay M, Adeyemo A, Bekele E, Motala A, Norris SA, Pirie F, Kaleebu P, Kwiatkowski D, Tyler-Smith C, Rotimi C, Zeggini E, Sandhu MS. Gurdasani D, et al. Among authors: hatzikotoulas k. Nature. 2015 Jan 15;517(7534):327-32. doi: 10.1038/nature13997. Epub 2014 Dec 3. Nature. 2015. PMID: 25470054 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. Among authors: hatzikotoulas k. Nat Commun. 2013;4:2872. doi: 10.1038/ncomms3872. Nat Commun. 2013. PMID: 24343240 Free PMC article.
Using population isolates in genetic association studies.
Hatzikotoulas K, Gilly A, Zeggini E. Hatzikotoulas K, et al. Brief Funct Genomics. 2014 Sep;13(5):371-7. doi: 10.1093/bfgp/elu022. Epub 2014 Jul 9. Brief Funct Genomics. 2014. PMID: 25009120 Free PMC article. Review.
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.
Panoutsopoulou K, Hatzikotoulas K, Xifara DK, Colonna V, Farmaki AE, Ritchie GR, Southam L, Gilly A, Tachmazidou I, Fatumo S, Matchan A, Rayner NW, Ntalla I, Mezzavilla M, Chen Y, Kiagiadaki C, Zengini E, Mamakou V, Athanasiadis A, Giannakopoulou M, Kariakli VE, Nsubuga RN, Karabarinde A, Sandhu M, McVean G, Tyler-Smith C, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E. Panoutsopoulou K, et al. Among authors: hatzikotoulas k. Nat Commun. 2014 Nov 6;5:5345. doi: 10.1038/ncomms6345. Nat Commun. 2014. PMID: 25373335 Free PMC article.
Trans-ethnic study design approaches for fine-mapping.
Asimit JL, Hatzikotoulas K, McCarthy M, Morris AP, Zeggini E. Asimit JL, et al. Among authors: hatzikotoulas k. Eur J Hum Genet. 2016 Aug;24(9):1330-6. doi: 10.1038/ejhg.2016.1. Epub 2016 Feb 3. Eur J Hum Genet. 2016. PMID: 26839038 Free PMC article.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium; Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium; Barroso… See abstract for full author list ➔ Tachmazidou I, et al. Among authors: hatzikotoulas k. Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552196 Free PMC article.
Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.
Hackinger S, Trajanoska K, Styrkarsdottir U, Zengini E, Steinberg J, Ritchie GRS, Hatzikotoulas K, Gilly A, Evangelou E, Kemp JP; arcOGEN Consortium, GEFOS Consortium; Evans D, Ingvarsson T, Jonsson H, Thorsteinsdottir U, Stefansson K, McCaskie AW, Brooks RA, Wilkinson JM, Rivadeneira F, Zeggini E. Hackinger S, et al. Among authors: hatzikotoulas k. Hum Mol Genet. 2017 Oct 1;26(19):3850-3858. doi: 10.1093/hmg/ddx285. Hum Mol Genet. 2017. PMID: 28934396 Free PMC article.
A novel variant in GLIS3 is associated with osteoarthritis.
Casalone E, Tachmazidou I, Zengini E, Hatzikotoulas K, Hackinger S, Suveges D, Steinberg J, Rayner NW; arcOGEN Consortium; Wilkinson JM, Panoutsopoulou K, Zeggini E. Casalone E, et al. Among authors: hatzikotoulas k. Ann Rheum Dis. 2018 Apr;77(4):620-623. doi: 10.1136/annrheumdis-2017-211848. Epub 2018 Feb 7. Ann Rheum Dis. 2018. PMID: 29436472 Free PMC article.
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Zengini E, Hatzikotoulas K, Tachmazidou I, Steinberg J, Hartwig FP, Southam L, Hackinger S, Boer CG, Styrkarsdottir U, Gilly A, Suveges D, Killian B, Ingvarsson T, Jonsson H, Babis GC, McCaskie A, Uitterlinden AG, van Meurs JBJ, Thorsteinsdottir U, Stefansson K, Davey Smith G, Wilkinson JM, Zeggini E. Zengini E, et al. Among authors: hatzikotoulas k. Nat Genet. 2018 Apr;50(4):549-558. doi: 10.1038/s41588-018-0079-y. Epub 2018 Mar 20. Nat Genet. 2018. PMID: 29559693 Free PMC article.
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Gilly A, Suveges D, Kuchenbaecker K, Pollard M, Southam L, Hatzikotoulas K, Farmaki AE, Bjornland T, Waples R, Appel EVR, Casalone E, Melloni G, Kilian B, Rayner NW, Ntalla I, Kundu K, Walter K, Danesh J, Butterworth A, Barroso I, Tsafantakis E, Dedoussis G, Moltke I, Zeggini E. Gilly A, et al. Among authors: hatzikotoulas k. Nat Commun. 2018 Nov 7;9(1):4674. doi: 10.1038/s41467-018-07070-8. Nat Commun. 2018. PMID: 30405126 Free PMC article.
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