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Page 1
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Kuchenbaecker K, Gilly A, Suveges D, Southam L, Giannakopoulou O, Kilian B, Tsafantakis E, Karaleftheri M, Farmaki AE, Gurdasani D, Kundu K, Sandhu MS, Danesh J, Butterworth A, Barroso I, Dedoussis G, Zeggini E. Kuchenbaecker K, et al. Among authors: southam l. Sci Rep. 2022 Jan 21;12(1):1131. doi: 10.1038/s41598-021-04436-9. Sci Rep. 2022. PMID: 35064169 Free PMC article.
Underlying genetic models of inheritance in established type 2 diabetes associations.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, Groop L, Hansen T, Hattersley AT, Hu FB, Hveem K, Illig T, Kuusisto J, Laakso M, Langenberg C, Lyssenko V, McCarthy MI, Morris A, Morris AD, Palmer CN, Payne F, Platou CG, Scott LJ, Voight BF, Wareham NJ, Zeggini E, Ioannidis JP. Salanti G, et al. Among authors: southam l. Am J Epidemiol. 2009 Sep 1;170(5):537-45. doi: 10.1093/aje/kwp145. Epub 2009 Jul 14. Am J Epidemiol. 2009. PMID: 19602701 Free PMC article.
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.
Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G, Beazley C, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Arden E, Battley K, Blackburn H, Blanco FJ, Bumpstead S, Cupples LA, Day-Williams AG, Dixon K, Doherty SA, Esko T, Evangelou E, Felson D, Gomez-Reino JJ, Gonzalez A, Gordon A, Gwilliam R, Halldorsson BV, Hauksson VB, Hofman A, Hunt SE, Ioannidis JP, Ingvarsson T, Jonsdottir I, Jonsson H, Keen R, Kerkhof HJ, Kloppenburg MG, Koller N, Lakenberg N, Lane NE, Lee AT, Metspalu A, Meulenbelt I, Nevitt MC, O'Neill F, Parimi N, Potter SC, Rego-Perez I, Riancho JA, Sherburn K, Slagboom PE, Stefansson K, Styrkarsdottir U, Sumillera M, Swift D, Thorsteinsdottir U, Tsezou A, Uitterlinden AG, van Meurs JB, Watkins B, Wheeler M, Mitchell S, Zhu Y, Zmuda JM; arcOGEN Consortium; Zeggini E, Loughlin J. Panoutsopoulou K, et al. Among authors: southam l. Ann Rheum Dis. 2011 May;70(5):864-7. doi: 10.1136/ard.2010.141473. Epub 2010 Dec 21. Ann Rheum Dis. 2011. PMID: 21177295 Free PMC article.
The effect of genome-wide association scan quality control on imputation outcome for common variants.
Southam L, Panoutsopoulou K, Rayner NW, Chapman K, Durrant C, Ferreira T, Arden N, Carr A, Deloukas P, Doherty M, Loughlin J, McCaskie A, Ollier WE, Ralston S, Spector TD, Valdes AM, Wallis GA, Wilkinson JM; arcOGEN consortium; Marchini J, Zeggini E. Southam L, et al. Eur J Hum Genet. 2011 May;19(5):610-4. doi: 10.1038/ejhg.2010.242. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267008 Free PMC article.
Genome-wide meta-analysis of common variant differences between men and women.
Boraska V, Jerončić A, Colonna V, Southam L, Nyholt DR, Rayner NW, Perry JR, Toniolo D, Albrecht E, Ang W, Bandinelli S, Barbalic M, Barroso I, Beckmann JS, Biffar R, Boomsma D, Campbell H, Corre T, Erdmann J, Esko T, Fischer K, Franceschini N, Frayling TM, Girotto G, Gonzalez JR, Harris TB, Heath AC, Heid IM, Hoffmann W, Hofman A, Horikoshi M, Zhao JH, Jackson AU, Hottenga JJ, Jula A, Kähönen M, Khaw KT, Kiemeney LA, Klopp N, Kutalik Z, Lagou V, Launer LJ, Lehtimäki T, Lemire M, Lokki ML, Loley C, Luan J, Mangino M, Mateo Leach I, Medland SE, Mihailov E, Montgomery GW, Navis G, Newnham J, Nieminen MS, Palotie A, Panoutsopoulou K, Peters A, Pirastu N, Polasek O, Rehnström K, Ripatti S, Ritchie GR, Rivadeneira F, Robino A, Samani NJ, Shin SY, Sinisalo J, Smit JH, Soranzo N, Stolk L, Swinkels DW, Tanaka T, Teumer A, Tönjes A, Traglia M, Tuomilehto J, Valsesia A, van Gilst WH, van Meurs JB, Smith AV, Viikari J, Vink JM, Waeber G, Warrington NM, Widen E, Willemsen G, Wright AF, Zanke BW, Zgaga L; Wellcome Trust Case Control Consortium; Boehnke M, d'Adamo AP, de Geus E, Demerath EW, den Heijer M, Eriksson JG, Ferrucci L, Gieger C, Gudnason V, Hayward C, Hengstenberg C, Hudson TJ… See abstract for full author list ➔ Boraska V, et al. Among authors: southam l. Hum Mol Genet. 2012 Nov 1;21(21):4805-15. doi: 10.1093/hmg/dds304. Epub 2012 Jul 27. Hum Mol Genet. 2012. PMID: 22843499 Free PMC article.
Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.
Elliott KS, Chapman K, Day-Williams A, Panoutsopoulou K, Southam L, Lindgren CM, Arden N, Aslam N, Birrell F, Carluke I, Carr A, Deloukas P, Doherty M, Loughlin J, McCaskie A, Ollier WE, Rai A, Ralston S, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson M, Zeggini E; GIANT consortium; arcOGEN consortium. Elliott KS, et al. Among authors: southam l. Ann Rheum Dis. 2013 Jun;72(6):935-41. doi: 10.1136/annrheumdis-2012-202081. Epub 2012 Sep 6. Ann Rheum Dis. 2013. PMID: 22956599 Free PMC article.
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
Hudson G, Panoutsopoulou K, Wilson I, Southam L, Rayner NW, Arden N, Birrell F, Carluke I, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Zeggini E, Samuels DC, Loughlin J, Chinnery PF; arcOGEN Consortium. Hudson G, et al. Among authors: southam l. Ann Rheum Dis. 2013 Jan;72(1):136-9. doi: 10.1136/annrheumdis-2012-201932. Epub 2012 Sep 14. Ann Rheum Dis. 2013. PMID: 22984172 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.
134 results