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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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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

van Rooij, Jeroen ; Uitterlinden, André G ; Kraaij, Robert ; Heutink, Peter ; Nalls, Mike A ; Plagnol, Vincent ; Sharma, Manu ; Saad, Mohamad ; Simón-Sánchez, Javier ; Schulte, Claudia ; Lesage, Suzanne ; Arepalli, Sampath ; Barker, Roger ; Ben, Yoav ; Berendse, Henk W ; Berg, Daniela ; Bhatia, Kailash ; de Bie, Rob M A ; Bloem, Bas ; Bochdanovits, Zoltan ; Bonin, Michael ; Bras, Jose M ; Brockmann, Kathrin ; Brooks, Janet ; Burn, David J ; Majounie, Elisa ; Charlesworth, Gavin ; Lungu, Codrin ; Chen, Honglei ; Chong, Sean ; Clarke, Carl E ; Mark Cooper, J ; Corvol, Jean Christophe ; Counsell, Carl ; Damier, Philippe ; Dartigues, Jean-François ; Deloukas, Panos ; Dexter, David T ; van Dijk, Karin D ; Durif, Frank ; Dürr, Alexandra ; Evans, Jonathan R ; Foltynie, Thomas ; Gardner, Michelle ; Raphael Gibbs, J ; Gray, Emma ; Guerreiro, Rita ; Harris, Clare ; van Hilten, Jacobus J ; Hofman, Albert ; Hollenbeck, Albert ; Holton, Janice ; Hu, Michele ; Huang, Xuemei ; Wurster, Isabel ; Hudson, Gavin ; Hunt, Sarah E ; Lees, Andrew ; Lichtner, Peter ; Lopez, Grisel ; Lorenz, Delia ; McNeill, Alisdair ; Moorby, Catriona ; Moore, Matthew ; Morris, Huw R ; Morrison, Karen E ; Pearson, Justin ; Perlmutter, Joel S ; Pétursson, Hjörvar ; Pollak, Pierre ; Riess, Olaf ; Rivadeneira, Fernando ; Ryten, Mina ; Schapira, Anthony ; Scheffer, Hans ; Shaw, Karen ; Shoulson, Ira ; Shulman, Joshua ; Sidransky, Ellen ; Smith, Colin ; Spencer, Chris C A ; Stefánsson, Hreinn ; Bettella, Francesco ; Stockton, Joanna D ; Strange, Amy ; Talbot, Kevin ; Tanner, Carlie M ; Tashakkori-Ghanbaria, Avazeh ; Trabzuni, Daniah ; Uitterlinden, André G ; Walker, Robert ; van de Warrenburg, Bart ; Wickremaratchi, Mirdhu ; Williams, Nigel ; Williams-Gray, Caroline H ; Winder-Rhodes, Sophie ; Martinez, Maria ; Wood, Nicholas W ; Brice, Alexis ; Gasser, Thomas

Brain (London, England : 1878), 2017-12, Vol.140 (12), p.3191-3203 [Periódico revisado por pares]

Oxford University Press

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3
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
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An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

Scott, Laura J ; Marullo, Letizia ; Gaulton, Kyle J ; Kaakinen, Marika ; Johnson, Andrew D ; Eicher, John D ; Lee, Yeji ; Ma, Clement ; Steinthorsdottir, Valgerdur ; Thorleifsson, Gudmar ; Van Zuydam, Natalie R ; Chen, Han ; Voight, Ben F ; Grallert, Harald ; Müller-Nurasyid, Martina ; Karssen, Lennart C ; van Leeuwen, Elisabeth M ; Willems, Sara M ; Fuchsberger, Christian ; Teslovich, Tanya M ; Chanda, Pritam ; Dina, Christian ; Yengo, Loic ; Jiang, Longda ; Sparso, Thomas ; Kestler, Hans A ; Eisele, Lewin ; Strawbridge, Rona J ; Benediktsson, Rafn ; Kong, Augustine ; Sigurðsson, Gunnar ; Kerrison, Nicola D ; Luan, Jian'an ; Roden, Michael ; Thorand, Barbara ; Fox, Caroline ; Liu, Ching-Ti ; Rybin, Denis ; Tuomi, Tiinamaija ; Couper, David J ; Jørgensen, Torben ; Linneberg, Allan ; Cornelis, Marilyn C ; Hunter, David J ; Kraft, Peter ; Sun, Qi ; Perry, John R B ; Wood, Andrew R ; Zeggini, Eleftheria ; Chines, Peter S ; Stringham, Heather M ; Mühleisen, Thomas W ; Nöthen, Markus M ; Pechlivanis, Sonali ; Humphries, Steve E ; Tremoli, Elena ; Klopp, Norman ; Mӓnnistö, Satu ; Charpentier, Guillaume ; Eury, Elodie ; Gigante, Bruna ; Leander, Karin ; Bottinger, Erwin P ; Blüher, Matthias ; Kovacs, Peter ; Scapoli, Chiara ; Erbel, Raimund ; Jöckel, Karl-Heinz ; Moebus, Susanne ; de Faire, Ulf ; Hamsten, Anders ; Stumvoll, Michael ; Donnelly, Peter J ; Frayling, Timothy M ; Hattersley, Andrew T ; Salomaa, Veikko ; Pedersen, Nancy L ; Mohlke, Karen L ; Barroso, Inês ; Lannfelt, Lars ; Ingelsson, Erik ; Lind, Lars ; Lindgren, Cecilia M ; Froguel, Philippe ; Palli, Domenico ; van der Schouw, Yvonne T ; Altshuler, David ; Groop, Leif C ; van Duijn, Cornelia M ; Florez, Jose C ; Meigs, James B ; Boerwinkle, Eric ; Strauch, Konstantin ; Metspalu, Andres ; Morris, Andrew D ; Hu, Frank B ; Thorsteinsdottir, Unnur ; Dupuis, Josée ; Morris, Andrew P ; Prokopenko, Inga

Diabetes (New York, N.Y.), 2017-11, Vol.66 (11), p.2888-2902 [Periódico revisado por pares]

United States: American Diabetes Association

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4
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Lesage, Suzanne ; Deramecourt, Vincent ; Jacoupy, Maxime ; Hassoun, Sidi Mohamed ; Pujol, Claire ; Maurage, Claude-Alain ; Sahbatou, Mourad ; Liebau, Stefan ; Bilgic, Basar ; Emre, Murat ; Erginel-Unaltuna, Nihan ; Guven, Gamze ; Tison, François ; Tranchant, Christine ; Corvol, Jean-Christophe ; Krack, Paul ; Hernandez, Dena G. ; Gibbs, J. Raphael ; Hardy, John ; Wood, Nicholas W. ; Durr, Alexandra ; Deleuze, Jean-François ; Tazir, Meriem ; Destée, Alain ; Lohmann, Ebba ; Corti, Olga ; Brice, Alexis ; Lesage, Suzanne ; Tison, François ; Vidailhet, Marie ; Corvol, Jean-Christophe ; Agid, Yves ; Anheim, Mathieu ; Bonnet, Anne-Marie ; Borg, Michel ; Broussolle, Emmanuel ; Durif, Franck ; Krack, Paul ; Klebe, Stephan ; Lohmann, Ebba ; Vérin, Marc ; Viallet, François ; Brice, Alexis ; Majounie, Elisa ; Corvol, Jean Christophe ; Ben-Shlomo, Yoav ; Berg, Daniela ; Bhatia, Kailash ; Bochdanovits, Zoltan ; Bonin, Michael ; Bras, Jose M. ; Brockmann, Kathrin ; Burn, David J. ; Chen, Honglei ; Clarke, Carl E. ; Cookson, Mark R. ; Counsell, Carl ; van Dijk, Karin D. ; Dong, Jing ; Escott-Price, Valentina ; Evans, Jonathan R. ; Gray, Emma ; Guerreiro, Rita ; van Hilten, Jacobus J. ; Hollenbeck, Albert ; Holmans, Peter ; Hu, Michèle ; Hudson, Gavin ; Hunt, Sarah E. ; Kilarski, Laura L. ; Jansen, Iris E. ; Langford, Cordelia ; Lees, Andrew ; Lorenz, Delia ; Lubbe, Steven ; Lungu, Codrin ; Martinez, María ; Mätzler, Walter ; McNeill, Alisdair ; Moorby, Catriona ; O’Sullivan, Sean S. ; Pearson, Justin ; Ravina, Bernard ; Rivadeneira, Fernando ; Ryten, Mina ; Schapira, Anthony ; Sharma, Manu ; Sheerin, Una-Marie ; Sidransky, Ellen ; Spencer, Chris C.A. ; Stefánsson, Kári ; Strange, Amy ; Talbot, Kevin ; Trabzuni, Daniah ; Uitterlinden, André G. ; van de Warrenburg, Bart ; Williams-Gray, Caroline H. ; Winder-Rhodes, Sophie ; Hardy, John ; Wood, Nicholas W.

American journal of human genetics, 2016-03, Vol.98 (3), p.500-513 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, 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, Nicole

Nature communications, 2015-09, Vol.6 (1), p.8111-8111, Article 8111 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

TSOI, Lam C ; SPAIN, Sarah L ; KANG, Hyun M ; ALLEN, Michael H ; MCMANUS, Ross ; NOVELLI, Giuseppe ; SAMUELSSON, Lena ; SCHALKWIJK, Joost ; STAHLE, Mona ; BURDEN, A. David ; SMITH, Catherine H ; CORK, Michael J ; KNIGHT, Jo ; ESTIVILL, Xavier ; BOWCOCK, Anne M ; KRUEGER, Gerald G ; WEGER, Wolfgang ; WORTHINGTON, Jane ; TAZI-AHNINI, Rachid ; NESTLE, Frank O ; HAYDAY, Adrian ; HOFFMANN, Per ; WINKELMANN, Juliane ; ELLINGHAUS, Eva ; WIJMENGA, Cisca ; LANGFORD, Cordelia ; EDKINS, Sarah ; ANDREWS, Robert ; BLACKBURN, Hannah ; STRANGE, Amy ; BAND, Gavin ; PEARSON, Richard D ; VUKCEVIC, Damjan ; SPENCER, Chris C. A ; STUART, Philip E ; DELOUKAS, Panos ; MROWIETZ, Ulrich ; SCHREIBER, Stefan ; WEIDINGER, Stephan ; KOKS, Sulev ; KINGO, Külli ; ESKO, Tonu ; METSPALU, Andres ; LIM, Henry W ; VOORHEES, John J ; CAPON, Francesca ; WEICHENTHAL, Michael ; WICHMANN, H. Erich ; CHANDRAN, Vinod ; ROSEN, Cheryl F ; JUN DING ; YANMING LI ; TEJASVI, Trilokraj ; GUDJONSSON, Johann E

Nature genetics, 2012-12, Vol.44 (12), p.1341-1348 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
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Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Beilina, Alexandria ; Rudenko, Iakov N. ; Kaganovich, Alice ; Civiero, Laura ; Chau, Hien ; Kalia, Suneil K. ; Kalia, Lorraine V. ; Lobbestael, Evy ; Chia, Ruth ; Ndukwe, Kelechi ; Ding, Jinhui ; Nalls, Mike A. ; Olszewski, Maciej ; Hauser, David N. ; Kumaran, Ravindran ; Lozano, Andres M. ; Baekelandt, Veerle ; Greene, Lois E. ; Taymans, Jean-Marc ; Greggio, Elisa ; Cookson, Mark R.

Proceedings of the National Academy of Sciences - PNAS, 2014-02, Vol.111 (7), p.2626-2631 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Brown, Matthew A ; Donnelly, Peter ; Evans, David M ; Spencer, Chris C A ; Pointon, Jennifer J ; Su, Zhan ; Harvey, David ; Kochan, Grazyna ; Opperman, Udo ; Dilthey, Alexander ; Pirinen, Matti ; Stone, Millicent A ; Appleton, Louise ; Moutsianis, Loukas ; Leslie, Stephen ; Wordsworth, Tom ; Kenna, Tony J ; Karaderi, Tugce ; Thomas, Gethin P ; Ward, Michael M ; Weisman, Michael H ; Farrar, Claire ; Bradbury, Linda A ; Danoy, Patrick ; Inman, Robert D ; Maksymowych, Walter ; Gladman, Dafna ; Rahman, Proton ; Morgan, Ann ; Marzo-Ortega, Helena ; Bowness, Paul ; Gaffney, Karl ; Gaston, J S Hill ; Smith, Malcolm ; Bruges-Armas, Jacome ; Couto, Ana-Rita ; Sorrentino, Rosa ; Paladini, Fabiana ; Ferreira, Manuel A ; Xu, Huji ; Liu, Yu ; Jiang, Lei ; Lopez-Larrea, Carlos ; Díaz-Peña, Roberto ; López-Vázquez, Antonio ; Zayats, Tetyana ; Band, Gavin ; Bellenguez, Céline ; Blackburn, Hannah ; Blackwell, Jenefer M ; Bramon, Elvira ; Bumpstead, Suzannah J ; Casas, Juan P ; Corvin, Aiden ; Craddock, Nicholas ; Deloukas, Panos ; Dronov, Serge ; Duncanson, Audrey ; Edkins, Sarah ; Freeman, Colin ; Gillman, Matthew ; Gray, Emma ; Gwilliam, Rhian ; Hammond, Naomi ; Hunt, Sarah E ; Jankowski, Janusz ; Jayakumar, Alagurevathi ; Langford, Cordelia ; Liddle, Jennifer ; Markus, Hugh S ; Mathew, Christopher G ; McCann, Owen T ; McCarthy, Mark I ; Palmer, Colin N A ; Peltonen, Leena ; Plomin, Robert ; Potter, Simon C ; Rautanen, Anna ; Ravindrarajah, Radhi ; Ricketts, Michelle ; Samani, Nilesh ; Sawcer, Stephen J ; Strange, Amy ; Trembath, Richard C ; Viswanathan, Ananth C ; Waller, Matthew ; Weston, Paul ; Whittaker, Pamela ; Widaa, Sara ; Wood, Nicholas W ; McVean, Gilean ; Reveille, John D ; Wordsworth, B Paul

Nature genetics, 2011-08, Vol.43 (8), p.761-767 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

Teh, Bin Tean ; Stratton, Michael R ; Futreal, P. Andrew ; Dalgliesh, Gillian L ; Furge, Kyle ; Greenman, Chris ; Chen, Lina ; Bignell, Graham ; Butler, Adam ; Davies, Helen ; Edkins, Sarah ; Hardy, Claire ; Latimer, Calli ; Teague, Jon ; Andrews, Jenny ; Barthorpe, Syd ; Beare, Dave ; Buck, Gemma ; Campbell, Peter J ; Forbes, Simon ; Jia, Mingming ; Jones, David ; Knott, Henry ; Kok, Chai Yin ; Lau, King Wai ; Leroy, Catherine ; Lin, Meng-Lay ; McBride, David J ; Maddison, Mark ; Maguire, Simon ; McLay, Kirsten ; Menzies, Andrew ; Mironenko, Tatiana ; Mulderrig, Lee ; Mudie, Laura ; O'Meara, Sarah ; Pleasance, Erin ; Rajasingham, Arjunan ; Shepherd, Rebecca ; Smith, Raffaella ; Stebbings, Lucy ; Stephens, Philip ; Tang, Gurpreet ; Tarpey, Patrick S ; Turrell, Kelly ; Dykema, Karl J ; Khoo, Sok Kean ; Petillo, David ; Wondergem, Bill ; Anema, John ; Kahnoski, Richard J

Nature (London), 2010-01, Vol.463 (7279), p.360-363 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins
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Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

Postmus, Iris ; Trompet, Stella ; Deshmukh, Harshal A ; Barnes, Michael R ; Li, Xiaohui ; Warren, Helen R ; Chasman, Daniel I ; Zhou, Kaixin ; Arsenault, Benoit J ; Donnelly, Louise A ; Wiggins, Kerri L ; Avery, Christy L ; Griffin, Paula ; Feng, QiPing ; Taylor, Kent D ; Li, Guo ; Evans, Daniel S ; Smith, Albert V ; de Keyser, Catherine E ; Johnson, Andrew D ; de Craen, Anton J M ; Stott, David J ; Buckley, Brendan M ; Ford, Ian ; Westendorp, Rudi G J ; Slagboom, P Eline ; Sattar, Naveed ; Munroe, Patricia B ; Sever, Peter ; Poulter, Neil ; Stanton, Alice ; Shields, Denis C ; O'Brien, Eoin ; Shaw-Hawkins, Sue ; Chen, Y-D Ida ; Nickerson, Deborah A ; Smith, Joshua D ; Dubé, Marie Pierre ; Boekholdt, S Matthijs ; Hovingh, G Kees ; Kastelein, John J P ; McKeigue, Paul M ; Betteridge, John ; Neil, Andrew ; Durrington, Paul N ; Doney, Alex ; Carr, Fiona ; Morris, Andrew ; McCarthy, Mark I ; Groop, Leif ; Ahlqvist, Emma ; Bis, Joshua C ; Rice, Kenneth ; Smith, Nicholas L ; Whitsel, Eric A ; Stürmer, Til ; Boerwinkle, Eric ; Ngwa, Julius S ; O'Donnell, Christopher J ; Vasan, Ramachandran S ; Wei, Wei-Qi ; Wilke, Russell A ; Liu, Ching-Ti ; Sun, Fangui ; Guo, Xiuqing ; Heckbert, Susan R ; Post, Wendy ; Sotoodehnia, Nona ; Arnold, Alice M ; Stafford, Jeanette M ; Ding, Jingzhong ; Herrington, David M ; Kritchevsky, Stephen B ; Eiriksdottir, Gudny ; Launer, Leonore J ; Harris, Tamara B ; Chu, Audrey Y ; Giulianini, Franco ; MacFadyen, Jean G ; Barratt, Bryan J ; Nyberg, Fredrik ; Stricker, Bruno H ; Uitterlinden, André G ; Hofman, Albert ; Rivadeneira, Fernando ; Emilsson, Valur ; Franco, Oscar H ; Ridker, Paul M ; Gudnason, Vilmundur ; Liu, Yongmei ; Denny, Joshua C ; Ballantyne, Christie M ; Rotter, Jerome I ; Adrienne Cupples, L ; Psaty, Bruce M ; Palmer, Colin N A ; Tardif, Jean-Claude ; Hitman, Graham ; Krauss, Ronald M ; Caulfield, Mark J

Nature communications, 2014-10, Vol.5 (1), p.5068, Article 5068 [Periódico revisado por pares]

England: Nature Publishing Group

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