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The UK10K project identifies rare variants in health and disease
The UK10K project identifies rare variants in health and disease
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The UK10K project identifies rare variants in health and disease

Walter, Klaudia ; Min, Josine L ; Huang, Jie ; Crooks, Lucy ; Memari, Yasin ; McCarthy, Shane ; Perry, John R B ; Xu, ChangJiang ; Futema, Marta ; Lawson, Daniel ; Iotchkova, Valentina ; Schiffels, Stephan ; Hendricks, Audrey E ; Danecek, Petr ; Li, Rui ; Floyd, James ; Wain, Louise V ; Barroso, Inês ; Humphries, Steve E ; Hurles, Matthew E ; Zeggini, Eleftheria ; Barrett, Jeffrey C ; Plagnol, Vincent ; Richards, J Brent ; Greenwood, Celia M T ; Timpson, Nicholas J ; Durbin, Richard ; Soranzo, Nicole

Nature (London), 2015-10, Vol.526 (7571), p.82-90 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa
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Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

Yilmaz, Zeynep ; Walters, Raymond ; Goldstein, Jackie ; Ripke, Stephan ; Thornton, Laura ; Hinney, Anke ; Daly, Mark ; Sullivan, Patrick F ; Zeggini, Eleftheria ; Breen, Gerome ; Adan, Roger ; Alfredsson, Lars ; Ando, Tetsuya ; Andreassen, Ole ; Aschauer, Harald ; Baker, Jessica ; Barrett, Jeffrey ; Bencko, Vladimir ; Boni, Claudette ; Perica, Vesna Boraska ; Burghardt, Roland ; Cassina, Matteo ; Cichon, Sven ; Crow, Scott ; Davis, Oliver ; de Zwaan, Martina ; Dedoussis, George ; Degortes, Daniela ; DeSocio, Janiece ; Dick, Danielle ; Ding, Bo ; Egberts, Karin ; Escaramís, Geòrgia ; Esko, Tõnu ; Fichter, Manfred ; Finan, Chris ; Fischer, Krista ; Floyd, James ; Föcker, Manuel ; Forzan, Monica ; Gaborieau, Valerie ; Gambaro, Giovanni ; Giegling, Ina ; Guillaume, Sébastien ; Guo, Yiran ; Hauser, Joanna ; Helder, Sietske ; Hendriks, Judith ; Herpertz-Dahlmann, Beate ; Herzog, Wolfgang ; Hudson, James ; Inoko, Hidetoshi ; Jall, Sigrid ; Jamain, Stephane ; Johnson, Craig ; Julià, Antonio ; Kennedy, Martin ; Kennedy, James ; Keski-Rahkonen, Anna ; Klareskog, Lars ; Klump, Kelly ; Leboyer, Marion ; Levitan, Robert ; Lissowska, Jolanta ; Maj, Mario ; Marsal, Sara ; Metspalu, Andres ; Micali, Nadia ; Monteleone, Palmiero ; Monteleone, Alessio Maria ; Mortensen, Preben ; Munn-Chernoff, Melissa ; Müller, Timo ; Ophoff, Roel ; O’Toole, Julie ; Pantel, Jacques ; Pinto, Dalila ; Rabionet, Raquel ; Reichborn-Kjennerud, Ted ; Ricca, Valdo ; Ripatti, Samuli ; Ritschel, Franziska ; Roberts, Marion ; Rotondo, Alessandro ; Rybakowski, Filip ; Santonastaso, Paolo ; Scherag, André ; Schork, Nicholas ; Scott, Laura ; Slachtova, Lenka ; Sladek, Robert ; Szatkiewicz, Jin ; Szeszenia-Dabrowska, Neonila ; Tachmazidou, Ioanna ; Tortorella, Alfonso ; Treasure, Janet ; Tsitsika, Artemis ; van Furth, Eric ; Wade, Tracey ; Wagner, Gudrun

The American journal of psychiatry, 2017-09, Vol.174 (9), p.850-858 [Periódico revisado por pares]

United States: American Psychiatric Association

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3
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Bjornsdottir, Gyda ; Stefansdottir, Lilja ; Thorleifsson, Gudmar ; Sulem, Patrick ; Norland, Kristjan ; Ferkingstad, Egil ; Oddsson, Asmundur ; Zink, Florian ; Lund, Sigrun H ; Nawaz, Muhammad S ; Bragi Walters, G ; Skuladottir, Astros Th ; Gudjonsson, Sigurjon A ; Einarsson, Gudmundur ; Halldorsson, Gisli H ; Bjarnadottir, Valgerdur ; Sveinbjornsson, Gardar ; Helgadottir, Anna ; Styrkarsdottir, Unnur ; Gudmundsson, Larus J ; Pedersen, Ole B ; Hansen, Thomas Folkmann ; Werge, Thomas ; Banasik, Karina ; Troelsen, Anders ; Skou, Soren T ; Thørner, Lise Wegner ; Erikstrup, Christian ; Nielsen, Kaspar Rene ; Mikkelsen, Susan ; Jonsdottir, Ingileif ; Bjornsson, Aron ; Olafsson, Ingvar H ; Ulfarsson, Elfar ; Blondal, Josep ; Vikingsson, Arnor ; Brunak, Soren ; Ostrowski, Sisse R ; Ullum, Henrik ; Thorsteinsdottir, Unnur ; Stefansson, Hreinn ; Gudbjartsson, Daniel F ; Thorgeirsson, Thorgeir E ; Stefansson, Kari

Nature communications, 2022-02, Vol.13 (1), p.634-634, Article 634 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
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Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis

Panoutsopoulou, 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 Mark

Annals of the rheumatic diseases, 2017-07, Vol.76 (7), p.1199-1206 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
Accelerating functional gene discovery in osteoarthritis
Accelerating functional gene discovery in osteoarthritis
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Accelerating functional gene discovery in osteoarthritis

Butterfield, Natalie C ; Curry, Katherine F ; Steinberg, Julia ; Dewhurst, Hannah ; Komla-Ebri, Davide ; Mannan, Naila S ; Adoum, Anne-Tounsia ; Leitch, Victoria D ; Logan, John G ; Waung, Julian A ; Ghirardello, Elena ; Southam, Lorraine ; Youlten, Scott E ; Wilkinson, J Mark ; McAninch, Elizabeth A ; Vancollie, Valerie E ; Kussy, Fiona ; White, Jacqueline K ; Lelliott, Christopher J ; Adams, David J ; Jacques, Richard ; Bianco, Antonio C ; Boyde, Alan ; Zeggini, Eleftheria ; Croucher, Peter I ; Williams, Graham R ; Bassett, J H Duncan

Nature communications, 2021-01, Vol.12 (1), p.467-18, Article 467 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
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Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Huckins, Laura M ; Boraska, Vesna ; Franklin, Christopher S ; Floyd, James A B ; Southam, Lorraine ; Sullivan, Patrick F ; Bulik, Cynthia M ; Collier, David A ; Tyler-Smith, Chris ; Zeggini, Eleftheria ; Tachmazidou, Ioanna

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1190-1200 [Periódico revisado por pares]

England: Nature Publishing Group

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7
A Genome‐Wide Association Study Meta‐Analysis of Alpha Angle Suggests Cam‐Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults
A Genome‐Wide Association Study Meta‐Analysis of Alpha Angle Suggests Cam‐Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults
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A Genome‐Wide Association Study Meta‐Analysis of Alpha Angle Suggests Cam‐Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults

Faber, Benjamin G. ; Frysz, Monika ; Hartley, April E. ; Ebsim, Raja ; Boer, Cindy G. ; Saunders, Fiona R. ; Gregory, Jennifer S. ; Aspden, Richard M. ; Harvey, Nicholas C. ; Southam, Lorraine ; Giles, William ; Le Maitre, Christine L. ; Wilkinson, J. Mark ; Meurs, Joyce B. J. ; Zeggini, Eleftheria ; Cootes, Timothy ; Lindner, Claudia ; Kemp, John P. ; Davey Smith, George ; Tobias, Jonathan H.

Arthritis & rheumatology (Hoboken, N.J.), 2023-06, Vol.75 (6), p.900-909 [Periódico revisado por pares]

Boston, USA: Wiley Periodicals, Inc

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8
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Haworth, Simon ; Shapland, Chin Yang ; Hayward, Caroline ; Prins, Bram P ; Felix, Janine F ; Medina-Gomez, Carolina ; Rivadeneira, Fernando ; Wang, Carol ; Ahluwalia, Tarunveer S ; Vrijheid, Martine ; Guxens, Mònica ; Sunyer, Jordi ; Tachmazidou, Ioanna ; Walter, Klaudia ; Iotchkova, Valentina ; Jackson, Andrew ; Cleal, Louise ; Huffmann, Jennifer ; Min, Josine L ; Sass, Lærke ; Timmers, Paul R H J ; Davey Smith, George ; Fisher, Simon E ; Wilson, James F ; Cole, Tim J ; Fernandez-Orth, Dietmar ; Bønnelykke, Klaus ; Bisgaard, Hans ; Pennell, Craig E ; Jaddoe, Vincent W V ; Dedoussis, George ; Timpson, Nicholas ; Zeggini, Eleftheria ; Vitart, Veronique ; St Pourcain, Beate

Nature communications, 2019-01, Vol.10 (1), p.357-357, Article 357 [Periódico revisado por pares]

England: Nature Publishing Group

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9
A Variant in MCF2L Is Associated with Osteoarthritis
A Variant in MCF2L Is Associated with Osteoarthritis
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A Variant in MCF2L Is Associated with Osteoarthritis

Day-Williams, Aaron G. ; Southam, Lorraine ; Panoutsopoulou, Kalliope ; Rayner, Nigel W. ; Esko, Tonu ; Estrada, Karol ; Helgadottir, Hafdis T. ; Hofman, Albert ; Ingvarsson, Throvaldur ; Jonsson, Helgi ; Keis, Aime ; Kerkhof, Hanneke J.M. ; Thorleifsson, Gudmar ; Arden, Nigel K. ; Carr, Andrew ; Chapman, Kay ; Deloukas, Panos ; Loughlin, John ; McCaskie, Andrew ; Ollier, William E.R. ; Ralston, Stuart H. ; Spector, Timothy D. ; Wallis, Gillian A. ; Wilkinson, J. Mark ; Aslam, Nadim ; Birell, Fraser ; Carluke, Ian ; Joseph, John ; Rai, Ashok ; Reed, Mike ; Walker, Kirsten ; Doherty, Sally A. ; Jonsdottir, Ingileif ; Maciewicz, Rose A. ; Muir, Kenneth R. ; Metspalu, Andres ; Rivadeneira, Fernando ; Stefansson, Kari ; Styrkarsdottir, Unnur ; Uitterlinden, Andre G. ; van Meurs, Joyce B.J. ; Zhang, Weiya ; Valdes, Ana M. ; Doherty, Michael ; Zeggini, Eleftheria

American journal of human genetics, 2011-09, Vol.89 (3), p.446-450 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls
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No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

Hudson, 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 F

Annals 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 Rheumatism

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