Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in FibrosisNg, Michael ; Thakkar, Dipti ; Southam, Lorraine ; Werker, Paul ; Ophoff, Roel ; Becker, Kerstin ; Nothnagel, Michael ; Franke, Andre ; Nürnberg, Peter ; Espirito-Santo, Ana Isabel ; Izadi, David ; Hennies, Hans Christian ; Nanchahal, Jagdeep ; Zeggini, Eleftheria ; Furniss, DominicAmerican journal of human genetics, 2017-09, Vol.101 (3), p.417-427 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysisPanoutsopoulou, Kalliope ; Thiagarajah, Shankar ; Zengini, Eleni ; Day-Williams, Aaron G ; Ramos, Yolande FM ; Meessen, Jennifer MTA ; Huetink, Kasper ; Nelissen, Rob GHH ; Southam, Lorraine ; Rayner, N William ; Doherty, Michael ; Meulenbelt, Ingrid ; Zeggini, Eleftheria ; Wilkinson, J MarkAnnals of the rheumatic diseases, 2017-07, Vol.76 (7), p.1199-1206 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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3 |
Material Type: Artigo
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Very low-depth whole-genome sequencing in complex trait association studiesGilly, Arthur ; Southam, Lorraine ; Suveges, Daniel ; Kuchenbaecker, Karoline ; Moore, Rachel ; Melloni, Giorgio E M ; Hatzikotoulas, Konstantinos ; Farmaki, Aliki-Eleni ; Ritchie, Graham ; Schwartzentruber, Jeremy ; Danecek, Petr ; Kilian, Britt ; Pollard, Martin O ; Ge, Xiangyu ; Tsafantakis, Emmanouil ; Dedoussis, George ; Zeggini, Eleftheria Hancock, JohnBioinformatics, 2019-08, Vol.35 (15), p.2555-2561 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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4 |
Material Type: Artigo
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelHuang, Jie ; Howie, Bryan ; McCarthy, Shane ; Memari, Yasin ; Walter, Klaudia ; Min, Josine L ; Danecek, Petr ; Malerba, Giovanni ; Trabetti, Elisabetta ; Zheng, Hou-Feng ; Gambaro, Giovanni ; Richards, J Brent ; Durbin, Richard ; Timpson, Nicholas J ; Marchini, Jonathan ; Soranzo, NicoleNature communications, 2015-09, Vol.6 (1), p.8111-8111, Article 8111 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputationGilly, Arthur ; Ritchie, Graham Rs ; Southam, Lorraine ; Farmaki, Aliki-Eleni ; Tsafantakis, Emmanouil ; Dedoussis, George ; Zeggini, EleftheriaHuman molecular genetics, 2016-06, Vol.25 (11), p.2360-2365 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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6 |
Material Type: Artigo
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Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order AmishXu, Huichun ; Ryan, Kathleen A ; Jaworek, Thomas J ; Southam, Lorraine ; Reid, Jeffrey G ; Overton, John D ; Baras, Aris ; Puurunen, Marja K ; Zeggini, Eleftheria ; Taylor, Simeon I ; Shuldiner, Alan R ; Mitchell, Braxton DDiabetes (New York, N.Y.), 2017-07, Vol.66 (7), p.2054-2058 [Periódico revisado por pares]United States: American Diabetes AssociationTexto completo disponível |
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7 |
Material Type: Artigo
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Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variantsPanoutsopoulou, Kalliope ; Hatzikotoulas, Konstantinos ; Xifara, Dionysia Kiara ; Colonna, Vincenza ; Farmaki, Aliki-Eleni ; Ritchie, Graham R S ; Southam, Lorraine ; Gilly, Arthur ; Tachmazidou, Ioanna ; Fatumo, Segun ; Matchan, Angela ; Rayner, Nigel W ; Ntalla, Ioanna ; Mezzavilla, Massimo ; Chen, Yuan ; Kiagiadaki, Chrysoula ; Zengini, Eleni ; Mamakou, Vasiliki ; Athanasiadis, Antonis ; Giannakopoulou, Margarita ; Kariakli, Vassiliki-Eirini ; Nsubuga, Rebecca N ; Karabarinde, Alex ; Sandhu, Manjinder ; McVean, Gil ; Tyler-Smith, Chris ; Tsafantakis, Emmanouil ; Karaleftheri, Maria ; Xue, Yali ; Dedoussis, George ; Zeggini, EleftheriaNature communications, 2014-11, Vol.5 (1), p.5345-5345, Article 5345 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Linkage and Association Analysis of Angiotensin I–Converting Enzyme (ACE)–Gene Polymorphisms with ACE Concentration and Blood PressureZhu, Xiaofeng ; Bouzekri, Nourdine ; Southam, Lorraine ; Cooper, Richard S. ; Adeyemo, Adebowale ; McKenzie, Colin A. ; Luke, Amy ; Chen, Guangjie ; Elston, Robert C. ; Ward, RykAmerican journal of human genetics, 2001-05, Vol.68 (5), p.1139-1148 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controlsHudson, Gavin ; Panoutsopoulou, Kalliope ; Wilson, Ian ; Southam, Lorraine ; Rayner, Nigel W ; Arden, Nigel ; Birrell, Fraser ; Carluke, Ian ; Carr, Andrew ; Chapman, Kay ; Deloukas, Panos ; Doherty, Michael ; McCaskie, Andrew ; Ollier, William E R ; Ralston, Stuart H ; Reed, Mike R ; Spector, Tim D ; Valdes, Ana M ; Wallis, Gillian A ; Wilkinson, J Mark ; Zeggini, Eleftheria ; Samuels, David C ; Loughlin, John ; Chinnery, Patrick FAnnals of the rheumatic diseases, 2013-01, Vol.72 (1), p.136-139 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and European League Against RheumatismTexto completo disponível |
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10 |
Material Type: Artigo
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Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotidesCox, Roger ; Bouzekri, Nourdine ; Martin, Sabrina ; Southam, Lorraine ; Hugill, Alison ; Golamaully, Mahamadee ; Cooper, Richard ; Adeyemo, Adebowale ; Soubrier, Florent ; Ward, Ryk ; Lathrop, G. Mark ; Matsuda, Fumihiko ; Farrall, MartinHuman molecular genetics, 2002-11, Vol.11 (23), p.2969-2977 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |