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Page 1
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK10K Consortium. Timpson NJ, et al. Among authors: tachmazidou i. Nat Commun. 2015 May 12;6:7171. doi: 10.1038/ncomms8171. Nat Commun. 2015. PMID: 25962519 Free PMC article. No abstract available.
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.
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.
Estimating genome-wide significance for whole-genome sequencing studies.
Xu C, Tachmazidou I, Walter K, Ciampi A, Zeggini E, Greenwood CM; UK10K Consortium. Xu C, et al. Among authors: tachmazidou i. Genet Epidemiol. 2014 May;38(4):281-90. doi: 10.1002/gepi.21797. Epub 2014 Feb 14. Genet Epidemiol. 2014. PMID: 24676807 Free PMC article.
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members. Timpson NJ, et al. Among authors: tachmazidou i. Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Nat Commun. 2014. PMID: 25225788 Free PMC article.
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: tachmazidou i. Nat Commun. 2014 Nov 6;5:5345. doi: 10.1038/ncomms6345. Nat Commun. 2014. PMID: 25373335 Free PMC article.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K; Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. Schmidts M, et al. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Nat Commun. 2015. PMID: 26044572 Free PMC article.
Height-reducing variants and selection for short stature in Sardinia.
Zoledziewska M, Sidore C, Chiang CWK, Sanna S, Mulas A, Steri M, Busonero F, Marcus JH, Marongiu M, Maschio A, Ortega Del Vecchyo D, Floris M, Meloni A, Delitala A, Concas MP, Murgia F, Biino G, Vaccargiu S, Nagaraja R, Lohmueller KE; UK10K consortium; Timpson NJ, Soranzo N, Tachmazidou I, Dedoussis G, Zeggini E; Understanding Society Scientific Group; Uzzau S, Jones C, Lyons R, Angius A, Abecasis GR, Novembre J, Schlessinger D, Cucca F. Zoledziewska M, et al. Among authors: tachmazidou i. Nat Genet. 2015 Nov;47(11):1352-1356. doi: 10.1038/ng.3403. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366551 Free PMC article.
85 results