Not logged in Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting Samani, Nilesh J.; Beeston, Emma; Greengrass, Chris; Riveros-McKay, Fernando; Debiec, Radoslaw; Lawday, Daniel; Wang, Qingning; Budgeon, Charley A.; Braund, Peter S.; Bramley, Richard; Kharodia, Shireen; Newton, Michelle; Marshall, Andrea; Krzeminski, Andre; Zafar, Azhar; Chahal, Anuj; Heer, Amadeeep; Khunti, Kamlesh; Joshi, Nitin; Lakhani, Mayur; Farooqi, Azhar; Plagnol, Vincent; Donnelly, Peter; Weale, Michael E.; Nelson, Christopher P. Share Save
A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting Fuat, Ahmet; Adlen, Ella; Monane, Mark; Coll, Ruth; Groves, Sarah; Little, Elizabeth; Wild, Jonathan; Kamali, Farzan J.; Soni, Yusuf; Haining, Shona; Riding, Helen; Riveros-Mckay, Fernando; Peneva, Iliana; Lachapelle, Alexander; Giner-Delgado, Carla; Weale, Michael E.; Plagnol, Vincent; Harrison, Seamus; Donnelly, Peter Share Save
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Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction Riveros-Mckay, Fernando; Weale, Michael E.; Moore, Rachel; Selzam, Saskia; Krapohl, Eva; Sivley, R. Michael; Tarran, William A.; Sorensen, Peter; Lachapelle, Alexander S.; Griffiths, Jonathan A.; Saffari, Ayden; Deanfield, John; Spencer, Chris C. A.; Hippisley-Cox, Julia; Hunter, David J.; O'Sullivan, Jack W.; Ashley, Euan A.; Plagnol, Vincent; Donnelly, Peter Share Save
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention Humphrey, Jack; Birsa, Nicol; Milioto, Carmelo; McLaughlin, Martha; Ule, Agnieszka M.; Robaldo, David; Eberle, Andrea B.; Kraeuchi, Rahel; Bentham, Matthew; Brown, Anna-Leigh; Jarvis, Seth; Bodo, Cristian; Garone, Maria G.; Devoy, Anny; Soraru, Gianni; Rosa, Alessandro; Bozzoni, Irene; Fisher, Elizabeth M. C.; Muehlemann, Oliver; Schiavo, Giampietro; Ruepp, Marc-David; Isaacs, Adrian M.; Plagnol, Vincent; Fratta, Pietro Share Save
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Rio-Machin, Ana; Vulliamy, Tom; Hug, Nele; Walne, Amanda; Tawana, Kiran; Cardoso, Shirleny; Ellison, Alicia; Pontikos, Nikolas; Wang, Jun; Tummala, Hemanth; Al Seraihi, Ahad Fahad H.; Alnajar, Jenna; Bewicke-Copley, Findlay; Armes, Hannah; Barnett, Michael; Bloor, Adrian; Bodor, Csaba; Bowen, David; Fenaux, Pierre; Green, Andrew; Hallahan, Andrew; Hjorth-Hansen, Henrik; Hossain, Upal; Killick, Sally; Lawson, Sarah; Layton, Mark; Male, Alison M.; Marsh, Judith; Mehta, Priyanka; Mous, Rogier; Nomdedeu, Josep F.; Owen, Carolyn; Pavlu, Jiri; Payne, Elspeth M.; Protheroe, Rachel E.; Preudhomme, Claude; Pujol-Moix, Nuria; Renneville, Aline; Russell, Nigel; Saggar, Anand; Sciuccati, Gabriela; Taussig, David; Toze, Cynthia L.; Uyttebroeck, Anne; Vandenberghe, Peter; Schlegelberger, Brigitte; Ripperger, Tim; Steinemann, Doris; Wu, John; Mason, Joanne; Page, Paula; Akiki, Susanna; Reay, Kim; Cavenagh, Jamie D.; Plagnol, Vincent; Caceres, Javier F.; Fitzgibbon, Jude; Dokal, Inderjeet Share Save
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy Goos, Helka; Fogarty, Christopher L.; Sahu, Biswajyoti; Plagnol, Vincent; Rajamaki, Kristiina; Nurmi, Katariina; Liu, Xiaonan; Einarsdottir, Elisabet; Jouppila, Annukka; Pettersson, Tom; Vihinen, Helena; Krjutskov, Kaarel; Saavalainen, Paivi; Jarvinen, Asko; Muurinen, Mari; Greco, Dario; Scala, Giovanni; Curtis, James; Nordstrom, Dan; Flaumenhaft, Robert; Vaarala, Outi; Kovanen, Panu E.; Keskitalo, Salla; Ranki, Annamari; Kere, Juha; Lehto, Markku; Notarangelo, Luigi D.; Nejentsev, Sergey; Eklund, Kari K.; Varjosalo, Markku; Taipale, Jussi; Seppanen, Mikko R. J. Share Save
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (vol 14, e1007329, 2018) Rivas, Manuel A.; Avila, Brandon E.; Koskela, Jukka; Huang, Hailiang; Stevens, Christine; Pirinen, Matti; Haritunians, Talin; Neale, Benjamin M.; Kurki, Mitja; Ganna, Andrea; Graham, Daniel; Glaser, Benjamin; Peter, Inga; Atzmon, Gil; Barzilai, Nir; Levine, Adam P.; Schiff, Elena; Pontikos, Nikolas; Weisburd, Ben; Lek, Monkol; Karczewski, Konrad J.; Bloom, Jonathan; Minikel, Eric V.; Petersen, Britt-Sabina; Beaugerie, Laurent; Seksik, Philippe; Cosnes, Jacques; Schreiber, Stefan; Bokemeyer, Bernd; Bethge, Johannes; Heap, Graham; Ahmad, Tariq; Plagnol, Vincent; Segal, Anthony W.; Targan, Stephan; Turner, Dan; Saavalainen, Paivi; Farkkila, Martti; Kontula, Kimmo; Palotie, Aarno; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Rioux, John D.; Weersma, Rinse K.; Franke, Andre; Jostins, Luke; Anderson, Carl A.; Barrett, Jeffrey C.; MacArthur, Daniel G.; Jalas, Chaim; Sokol, Harry; Xavier, Ramnik J.; Pulver, Ann; Cho, Judy H.; McGovern, Dermot P. B.; Daly, Mark J. Share Save
Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus Granno, Simone; Nixon-Abell, Jonathon; Berwick, Daniel C.; Tosh, Justin; Heaton, George; Almudimeegh, Sultan; Nagda, Zenisha; Rain, Jean-Christophe; Zanda, Manuela; Plagnol, Vincent; Tybulewicz, Victor L. J.; Cleverley, Karen; Wiseman, Frances K.; Fisher, Elizabeth M. C.; Harvey, Kirsten Share Save
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, Monica; Sunyer, Jordi; Tachmazidou, Ioanna; Walter, Klaudia; Iotchkova, Valentina; Jackson, Andrew; Cleal, Louise; Huffmann, Jennifer; Min, Josine L.; Sass, Laerke; Timmers, Paul R. H. J.; Al Turki, Saeed; Anderson, Carl A.; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Bala, Senduran; Barrett, Jeffrey C.; Barroso, Ines; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick F.; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Charlton, Ruth; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebahattin; Clapham, Peter; Clement, Gail; Coates, Guy; Cocca, Massimiliano; Collier, David A.; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Danecek, Petr; Day, Ian N. M.; Day-Williams, Aaron; Dominiczak, Anna; Down, Thomas; Du, Yuanping; Dunham, Ian; Durbin, Richard; Edkins, Sarah; Ekong, Rosemary; Ellis, Peter; Evans, David M.; Farooqi, I. Sadaf; Fitzpatrick, David R.; Flicek, Paul; Floyd, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Gaunt, Tom R.; Geihs, Matthias; Geschwind, Daniel; Greenwood, Celia M. T.; Griffin, Heather; Grozeva, Detelina; Guo, Xiaosen; Guo, Xueqin; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey E.; Holmans, Peter; Howie, Bryan; Huang, Jie; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hurles, Matthew E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Joyce, Chris; Karczewski, Konrad J.; Kaye, Jane; Keane, Thomas; Kemp, John P.; Kennedy, Karen; Kent, Alastair; Keogh, Julia; Khawaja, Farrah; van Kogelenberg, Margriet; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Li, Rui; Li, Yingrui; Liang, Jieqin; Lin, Hong; Liu, Ryan; Lonnqvist, Jouko; Lopes, Luis R.; Lopes, Margarida; MacArthur, Daniel G.; Mangino, Massimo; Marchini, Jonathan; Marenne, Gaelle; Maslen, John; Mathieson, Iain; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew M.; McKechanie, Andrew G.; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Migone, Nicola; Mitchison, Hannah M.; Moayyeri, Alireza; Morris, Andrew; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael C.; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Payne, Stewart J.; Perry, John R. B.; Pietilainen, Olli; Plagnol, Vincent; Pollitt, Rebecca C.; Porteous, David J.; Povey, Sue; Quail, Michael A.; Quaye, Lydia; Raymond, F. Lucy; Rehnstrom, Karola; Richards, J. Brent; Ridout, Cheryl K.; Ring, Susan; Ritchie, Graham R. S.; Roberts, Nicola; Robinson, Rachel L.; Savage, David B.; Scambler, Peter; Schiffels, Stephan; Schmidts, Miriam; Schoenmakers, Nadia; Scott, Richard H.; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shaw, Adam; Shihab, Hashem A.; Shin, So-Youn; Skuse, David; Small, Kerrin S.; Smee, Carol; Smith, Blair H.; Soranzo, Nicole; Southam, Lorraine; Spasic-Boskovic, Olivera; Spector, Timothy D.; St Clair, David; Stalker, Jim; Stevens, Elizabeth; Sun, Jianping; Surdulescu, Gabriela; Suvisaari, Jaana; Syrris, Petros; Taylor, Rohan; Tian, Jing; Tobin, Martin D.; Valdes, Ana M.; Vandersteen, Anthony M.; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walters, James T. R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Eleanor; Whyte, Tamieka; Williams, Hywel J.; Williamson, Kathleen A.; Wilson, Crispian; Wilson, Scott G.; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zhang, Feng; Zhang, Pingbo; Zheng, Hou-Feng; Smith, George Davey; Fisher, Simon E.; Wilson, James F.; Cole, Tim J.; Fernandez-Orth, Dietmar; Bonnelykke, Klaus; Bisgaard, Hans; Pennell, Craig E.; Jaddoe, Vincent W. V.; Dedoussis, George; Timpson, Nicholas; Zeggini, Eleftheria; Vitart, Veronique; St Pourcain, Beate Share Save
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa Neves, Joao Farela; Doffinger, Rainer; Barcena-Morales, Gabriela; Martins, Catarina; Papapietro, Olivier; Plagnol, Vincent; Curtis, James; Martins, Marta; Kumararatne, Dinakantha; Cordeiro, Ana Isabel; Neves, Conceicao; Borrego, Luis Miguel; Katan, Matilda; Nejentsev, Sergey Share Save
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes Franceschini, Nora; Giambartolomei, Claudia; de Vries, Paul S.; Finan, Chris; Bis, Joshua C.; Huntley, Rachael P.; Lovering, Ruth C.; Tajuddin, Salman M.; Winkler, Thomas W.; Graff, Misa; Kavousi, Maryam; Dale, Caroline; Smith, Albert V.; Hofer, Edith; van Leeuwen, Elisabeth M.; Nolte, Ilja M.; Lu, Lingyi; Scholz, Markus; Sargurupremraj, Muralidharan; Pitkanen, Niina; Franzen, Oscar; Joshi, Peter K.; Noordam, Raymond; Marioni, Riccardo E.; Hwang, Shih-Jen; Musani, Solomon K.; Schminke, Ulf; Palmas, Walter; Isaacs, Aaron; Correa, Adolfo; Zonderman, Alan B.; Hofman, Albert; Teumer, Alexander; Cox, Amanda J.; Uitterlinden, Andre G.; Wong, Andrew; Smit, Andries J.; Newman, Anne B.; Britton, Annie; Ruusalepp, Arno; Sennblad, Bengt; Hedblad, Bo; Pasaniuc, Bogdan; Penninx, Brenda W.; Langefeld, Carl D.; Wassel, Christina L.; Tzourio, Christophe; Fava, Cristiano; Baldassarre, Damiano; O'Leary, Daniel H.; Teupser, Daniel; Kuh, Diana; Tremoli, Elena; Mannarino, Elmo; Grossi, Enzo; Boerwinkle, Eric; Schadt, Eric E.; Ingelsson, Erik; Veglia, Fabrizio; Rivadeneira, Fernando; Beutner, Frank; Chauhan, Ganesh; Heiss, Gerardo; Snieder, Harold; Campbell, Harry; Voelzke, Henry; Markus, Hugh S.; Deary, Ian J.; Jukema, J. Wouter; de Graaf, Jacqueline; Price, Jacqueline; Pott, Janne; Hopewell, Jemma C.; Liang, Jingjing; Thiery, Joachim; Engmann, Jorgen; Gertow, Karl; Rice, Kenneth; Taylor, Kent D.; Dhana, Klodian; Kiemeney, Lambertus A. L. M.; Lind, Lars; Raffield, Laura M.; Launer, Lenore J.; Holdt, Lesca M.; Doer, Marcus; Dichgans, Martin; Traylor, Matthew; Sitzer, Matthias; Kumari, Meena; Kivimaki, Mika; Nalls, Mike A.; Melander, Olle; Raitakari, Olli; Franco, Oscar H.; Rueda-Ochoa, Oscar L.; Roussos, Panos; Whincup, Peter H.; Amouyel, Philippe; Giral, Philippe; Anugu, Pramod; Wong, Quenna; Malik, Rainer; Rauramaa, Rainer; Burkhardt, Ralph; Hardy, Rebecca; Schmidt, Reinhold; de Mutsert, Renee; Morris, Richard W.; Strawbridge, Rona J.; Wannamethee, S. Goya; Hagg, Sara; Shah, Sonia; McLachlan, Stela; Trompet, Stella; Seshadri, Sudha; Kurl, Sudhir; Heckbert, Susan R.; Ring, Susan; Harris, Tamara B.; Lehtimaki, Terho; Galesloot, Tessel E.; Shah, Tina; de Faire, Ulf; Plagnol, Vincent; Rosamond, Wayne D.; Post, Wendy; Zhu, Xiaofeng; Zhang, Xiaoling; Guo, Xiuqing; Saba, Yasaman; Dehghan, Abbas; Seldenrijk, Adrie; Morrison, Alanna C.; Hamsten, Anders; Psaty, Bruce M.; van Duijn, Cornelia M.; Lawlor, Deborah A.; Mook-Kanamori, Dennis O.; Bowden, Donald W.; Schmidt, Helena; Wilson, James F.; Wilson, James G.; Rotter, Jerome I.; Wardlaw, Joanna M.; Deanfield, John; Halcox, Julian; Lyytikainen, Leo-Pekka; Loeffler, Markus; Evans, Michele K.; Debette, Stephanie; Humphries, Steve E.; Voelker, Uwe; Gudnason, Vilmundur; Hingorani, Aroon D.; Bjorkegren, Johan L. M.; Casas, Juan P.; O'Donnell, Christopher J. Share Save
Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients Risberg, Bente; Tsui, Dana W. Y.; Biggs, Heather; de Almagro, Andrea Ruiz-Valdepenas Martin; Dawson, Sarah-Jane; Hodgkin, Charlotte; Jones, Linda; Parkinson, Christine; Piskorz, Anna; Marass, Francesco; Chandrananda, Dineika; Moore, Elizabeth; Morris, James; Plagnol, Vincent; Rosenfeld, Nitzan; Caldas, Carlos; Brenton, James D.; Gale, Davina Share Save
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function Sivakumar, Prasanth; De Giorgio, Francesca; Ule, Agnieszka M.; Neeves, Jacob; Nair, Remya R.; Bentham, Matthew; Birsa, Nicol; Humphrey, Jack; Plagnol, Vincent; Acevedo-Arozena, Abraham; Cunningham, Thomas J.; Fisher, Elizabeth M. C.; Fratta, Pietro Share Save
Analytical validation of InVisionFirst™, a liquid biopsy assay for high-sensitivity broad molecular profiling of circulating tumor DNA using plasma samples of cancer patients Woodhouse, Samuel; Plagnol, Vincent; Howarth, Karen; Lensing, Stefanie; Smith, Matt; Epstein, Michael; Madi, Mikidache; Smalley, Sarah; Leroy, Catherine; Hinton, Jonathan; De Kievit, Frank; Musgrave-Brown, Esther; Herd, Colin; Baker-Neblett, Katherine; Brennan, Will; Dimitrov, Peter; Campbell, Nathan; Rosenfeld, Nitzan; Clark, James; Gale, Davina; Platt, Jamie; Calaway, John; Jones, Greg; Forshew, Tim Share Save
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population Rivas, Manuel A.; Avila, Brandon E.; Koskela, Jukka; Huang, Hailiang; Stevens, Christine; Pirinen, Matti; Haritunians, Talin; Neale, Benjamin M.; Kurki, Mitja; Ganna, Andrea; Graham, Daniel; Glaser, Benjamin; Peter, Inga; Atzmon, Gil; Barzilai, Nir; Levine, Adam P.; Schiff, Elena; Pontikos, Nikolas; Weisburd, Ben; Lek, Monkol; Karczewski, Konrad J.; Bloom, Jonathan; Minikel, Eric V.; Petersen, Britt-Sabina; Beaugerie, Laurent; Seksik, Philippe; Cosnes, Jacques; Schreiber, Stefan; Bokemeyer, Bernd; Bethge, Johannes; Heap, Graham; Ahmad, Tariq; Plagnol, Vincent; Segal, Anthony W.; Targan, Stephan; Turner, Dan; Saavalainen, Paivi; Farkkila, Martti; Kontula, Kimmo; Palotie, Aarno; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Rioux, John D.; Weersma, Rinse K.; Franke, Andre; Jostins, Luke; Anderson, Carl A.; Barrett, Jeffrey C.; MacArthur, Daniel G.; Jalas, Chaim; Sokol, Harry; Xavier, Ramnik J.; Pulver, Ann; Cho, Judy H.; McGovern, Dermot P. B.; Daly, Mark J. Share Save
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis Fratta, Pietro; Sivakumar, Prasanth; Humphrey, Jack; Lo, Kitty; Ricketts, Thomas; Oliveira, Hugo; Brito-Armas, Jose M.; Kalmar, Bernadett; Ule, Agnieszka; Yu, Yichao; Birsa, Nicol; Bodo, Cristian; Collins, Toby; Conicella, Alexander E.; Maza, Alan Mejia; Marrero-Gagliardi, Alessandro; Stewart, Michelle; Mianne, Joffrey; Corrochano, Silvia; Emmett, Warren; Codner, Gemma; Groves, Michael; Fukumura, Ryutaro; Gondo, Yoichi; Lythgoe, Mark; Pauws, Erwin; Peskett, Emma; Stanier, Philip; Teboul, Lydia; Hallegger, Martina; Calvo, Andrea; Chio, Adriano; Isaacs, Adrian M.; Fawzi, Nicolas L.; Wang, Eric; Housman, David E.; Baralle, Francisco; Greensmith, Linda; Buratti, Emanuele; Plagnol, Vincent; Fisher, Elizabeth M. C.; Acevedo-Arozena, Abraham Share Save
Peripheral tissues reprogram CD8+ T cells for pathogenicity during graft-versus-host disease Santos e Sousa, Pedro; Cire, Severine; Conlan, Thomas; Jardine, Laura; Tkacz, Claire; Ferrer, Ivana R.; Lomas, Cara; Ward, Sophie; West, Heather; Dertschnig, Simone; Blobner, Sven; Means, Terry K.; Henderson, Stephen; Kaplan, Daniel H.; Collin, Matthew; Plagnol, Vincent; Bennett, Clare L.; Chakraverty, Ronjon Share Save
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome Bochukova, Elena G.; Lawler, Katherine; Croizier, Sophie; Keogh, Julia M.; Patel, Nisha; Strohbehn, Garth; Lo, Kitty K.; Humphrey, Jack; Hokken-Koelega, Anita; Damen, Layla; Donze, Stephany; Bouret, Sebastien G.; Plagnol, Vincent; Farooqi, I. Sadaf Share Save
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females Fiorentino, Alessia; Fujinami, Kaoru; Arno, Gavin; Robson, Anthony G.; Pontikos, Nikolas; Arasanz Armengol, Monica; Plagnol, Vincent; Hayashi, Takaaki; Iwata, Takeshi; Parker, Matthew; Fowler, Tom; Rendon, Augusto; Gardner, Jessica C.; Henderson, Robert H.; Cheetham, Michael E.; Webster, Andrew R.; Michaelides, Michel; Hardcastle, Alison J. Share Save
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