Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

por Katrina Soderquest, Arnulf Hertweck, Claudia Giambartolomei, Stephen Henderson, Rami Mohamed, Rimma Goldberg, Esperanza Perucha, Lude Franke, Javier Herrero, Vincent Plagnol, Richard G Jenner, Graham M Lord
Publicado 2017

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

por Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev
Publicado 2016

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

por Daniah Trabzuni, Mina Ryten, Warren Emmett, Adaikalavan Ramasamy, Karl J Lackner, Tanja Zeller, Robert Walker, Colin Smith, Patrick A Lewis, Adamantios Mamais, Rohan de Silva, Jana Vandrovcova, International Parkinson Disease Genomics Consortium (IPDGC), Dena Hernandez, Michael A Nalls, Manu Sharma, Sophie Garnier, Suzanne Lesage, Javier Simon-Sanchez, Thomas Gasser, Peter Heutink, Alexis Brice, Andrew Singleton, Huaibin Cai, Eric Schadt, Nicholas W Wood, Rina Bandopadhyay, Michael E Weale, John Hardy, Vincent Plagnol
Publicado 2013

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

por Abhishek Nag, Elena G Bochukova, Barbara Kremeyer, Desmond D Campbell, Heike Muller, Ana V Valencia-Duarte, Julio Cardona, Isabel C Rivas, Sandra C Mesa, Mauricio Cuartas, Jharley Garcia, Gabriel Bedoya, William Cornejo, Luis D Herrera, Roxana Romero, Eduardo Fournier, Victor I Reus, Thomas L Lowe, I Sadaf Farooqi, Tourette Syndrome Association International Consortium for Genetics, Carol A Mathews, Lauren M McGrath, Dongmei Yu, Ed Cook, Kai Wang, Jeremiah M Scharf, David L Pauls, Nelson B Freimer, Vincent Plagnol, Andrés Ruiz-Linares
Publicado 2013

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

por Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Publicado 2020

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

por Nora Franceschini, Claudia Giambartolomei, Paul S. de Vries, Chris Finan, Joshua C. Bis, Rachael P. Huntley, Ruth C. Lovering, Salman M. Tajuddin, Thomas W. Winkler, Misa Graff, Maryam Kavousi, Caroline Dale, Albert V. Smith, Edith Hofer, Elisabeth M. van Leeuwen, Ilja M. Nolte, Lingyi Lu, Markus Scholz, Muralidharan Sargurupremraj, Niina Pitkänen, Oscar Franzén, Peter K. Joshi, Raymond Noordam, Riccardo E. Marioni, Shih-Jen Hwang, Solomon K. Musani, Ulf Schminke, Walter Palmas, Aaron Isaacs, Adolfo Correa, Alan B. Zonderman, Albert Hofman, Alexander Teumer, Amanda J. Cox, André G. Uitterlinden, Andrew Wong, Andries J. Smit, Anne B. Newman, Annie Britton, Arno Ruusalepp, Bengt Sennblad, Bo Hedblad, Bogdan Pasaniuc, Brenda W. Penninx, Carl D. Langefeld, Christina L. Wassel, Christophe Tzourio, Cristiano Fava, Damiano Baldassarre, Daniel H. O’Leary, Daniel Teupser, Diana Kuh, Elena Tremoli, Elmo Mannarino, Enzo Grossi, Eric Boerwinkle, Eric E. Schadt, Erik Ingelsson, Fabrizio Veglia, Fernando Rivadeneira, Frank Beutner, Ganesh Chauhan, Gerardo Heiss, Harold Snieder, Harry Campbell, Henry Völzke, Hugh S. Markus, Ian J. Deary, J. Wouter Jukema, Jacqueline de Graaf, Jacqueline Price, Janne Pott, Jemma C. Hopewell, Jingjing Liang, Joachim Thiery, Jorgen Engmann, Karl Gertow, Kenneth Rice, Kent D. Taylor, Klodian Dhana, Lambertus A. L. M. Kiemeney, Lars Lind, Laura M. Raffield, Lenore J. Launer, Lesca M. Holdt, Marcus Dörr, Martin Dichgans, Matthew Traylor, Matthias Sitzer, Meena Kumari, Mika Kivimaki, Mike A. Nalls, Olle Melander, Olli Raitakari, Oscar H. Franco, Oscar L. Rueda-Ochoa, Panos Roussos, Peter H. Whincup, Philippe Amouyel, Philippe Giral, Pramod Anugu, Quenna Wong, Rainer Malik, Rainer Rauramaa, Ralph Burkhardt, Rebecca Hardy, Reinhold Schmidt, Renée de Mutsert, Richard W. Morris, Rona J. Strawbridge, S. Goya Wannamethee, Sara Hägg, Sonia Shah, Stela McLachlan, Stella Trompet, Sudha Seshadri, Sudhir Kurl, Susan R. Heckbert, Susan Ring, Tamara B. Harris, Terho Lehtimäki, Tessel E. Galesloot, Tina Shah, Ulf de Faire, Vincent Plagnol, Wayne D. Rosamond, Wendy Post, Xiaofeng Zhu, Xiaoling Zhang, Xiuqing Guo, Yasaman Saba, MEGASTROKE Consortium, Abbas Dehghan, Adrie Seldenrijk, Alanna C. Morrison, Anders Hamsten, Bruce M. Psaty, Cornelia M. van Duijn, Deborah A. Lawlor, Dennis O. Mook-Kanamori, Donald W. Bowden, Helena Schmidt, James F. Wilson, James G. Wilson, Jerome I. Rotter, Joanna M. Wardlaw, John Deanfield, Julian Halcox, Leo-Pekka Lyytikäinen, Markus Loeffler, Michele K. Evans, Stéphanie Debette, Steve E. Humphries, Uwe Völker, Vilmundur Gudnason, Aroon D. Hingorani, Johan L. M. Björkegren, Juan P. Casas, Christopher J. O’Donnell
Publicado 2018