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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield Bowen, Jessica M.; Hernandez, Monica; Johnson, Diana S.; Green, Claire; Kammin, Tammy; Baker, Duncan; Keigwin, Sylvia; Makino, Seiko; Taylor, Naomi; Watson, Oliver; Wheeldon, Nigel M.; Sobey, Glenda J. Share Save
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity Gilchrist, James J.; Makino, Seiko; Naranbhai, Vivek; Sharma, Piyush K.; Koturan, Surya; Tong, Orion; Taylor, Chelsea A.; Watson, Robert A.; de los Aires, Alba Verge; Cooper, Rosalin; Lau, Evelyn; Danielli, Sara; Hameiri-Bowen, Dan; Lee, Wanseon; Ng, Esther; Whalley, Justin; Knight, Julian C.; Fairfax, Benjamin P. Share Save
Context-specific regulation of surface and soluble IL7R expression by an autoimmune risk allele Al-Mossawi, Hussein; Yager, Nicole; Taylor, Chelsea A.; Lau, Evelyn; Danielli, Sara; de Wit, Jelle; Gilchrist, James; Nassiri, Isar; Mahe, Elise A.; Lee, Wanseon; Rizvi, Laila; Makino, Seiko; Cheeseman, Jane; Neville, Matt; Knight, Julian C.; Bowness, Paul; Fairfax, Benjamin P. Share Save
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series Domingo, Enric; Camps, Carme; Kaisaki, Pamela J.; Parsons, Marie J.; Mouradov, Dmitri; Pentony, Melissa M.; Makino, Seiko; Palmieri, Michelle; Ward, Robyn L.; Hawkins, Nicholas J.; Gibbs, Peter; Askautrud, Hanne; Oukrif, Dahmane; Wang, Haitao; Wood, Joe; Tomlinson, Evie; Bark, Yasmine; Kaur, Kulvinder; Johnstone, Elaine C.; Palles, Claire; Church, David N.; Novelli, Marco; Danielsen, Havard E.; Sherlock, Jon; Kerr, David; Kerr, Rachel; Sieber, Oliver; Taylor, Jenny C.; Tomlinson, Ian Share Save
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response Temko, Daniel; Van Gool, Inge C.; Rayner, Emily; Glaire, Mark; Makino, Seiko; Brown, Matthew; Chegwidden, Laura; Palles, Claire; Depreeuw, Jeroen; Beggs, Andrew; Stathopoulou, Chaido; Mason, John; Baker, Ann-Marie; Williams, Marc; Cerundolo, Vincenzo; Rei, Margarida; Taylor, Jenny C.; Schuh, Anna; Ahmed, Ahmed; Amant, Frederic; Lambrechts, Diether; Smit, Vincent T. H. B. M.; Bosse, Tjalling; Graham, Trevor A.; Church, David N.; Tomlinson, Ian Share Save
Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells Kasela, Silva; Kisand, Kai; Tserel, Liina; Kaleviste, Epp; Remm, Anu; Fischer, Krista; Esko, Tonu; Westra, Harm-Jan; Fairfax, Benjamin P.; Makino, Seiko; Knight, Julian C.; Franke, Lude; Metspalu, Andres; Peterson, Part; Milani, Lili Share Save
Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy Findlay, John M.; Castro-Giner, Francesc; Makino, Seiko; Rayner, Emily; Kartsonaki, Christiana; Cross, William; Kovac, Michal; Ulahannan, Danny; Palles, Claire; Gillies, Richard S.; MacGregor, Thomas P.; Church, David; Maynard, Nicholas D.; Buffa, Francesca; Cazier, Jean-Baptiste; Graham, Trevor A.; Wang, Lai-Mun; Sharma, Ricky A.; Middleton, Mark; Tomlinson, Ian Share Save
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Cell Specific eQTL Analysis without Sorting Cells Westra, Harm-Jan; Arends, Danny; Esko, Tonu; Peters, Marjolein J.; Schurmann, Claudia; Schramm, Katharina; Kettunen, Johannes; Yaghootkar, Hanieh; Fairfax, Benjamin P.; Andiappan, Anand Kumar; Li, Yang; Fu, Jingyuan; Karjalainen, Juha; Platteel, Mathieu; Visschedijk, Marijn; Weersma, Rinse K.; Kasela, Silva; Milani, Lili; Tserel, Liina; Peterson, Part; Reinmaa, Eva; Hofman, Albert; Uitterlinden, Andre G.; Rivadeneira, Fernando; Homuth, Georg; Petersmann, Astrid; Lorbeer, Roberto; Prokisch, Holger; Meitinger, Thomas; Herder, Christian; Roden, Michael; Grallert, Harald; Ripatti, Samuli; Perola, Markus; Wood, Andrew R.; Melzer, David; Ferrucci, Luigi; Singleton, Andrew B.; Hernandez, Dena G.; Knight, Julian C.; Melchiotti, Rossella; Lee, Bernett; Poidinger, Michael; Zolezzi, Francesca; Larbi, Anis; Wang, De Yun; van den Berg, Leonard H.; Veldink, Jan H.; Rotzschke, Olaf; Makino, Seiko; Salomaa, Veikko; Strauch, Konstantin; Voelker, Uwe; van Meurs, Joyce B. J.; Metspalu, Andres; Wijmenga, Cisca; Jansen, Ritsert C.; Franke, Lude Share Save
Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution Kovac, Michal; Navas, Carolina; Horswell, Stuart; Salm, Max; Bardella, Chiara; Rowan, Andrew; Stares, Mark; Castro-Giner, Francesc; Fisher, Rosalie; de Bruin, Elza C.; Kovacova, Monika; Gorman, Maggie; Makino, Seiko; Williams, Jennet; Jaeger, Emma; Jones, Angela; Howarth, Kimberley; Larkin, James; Pickering, Lisa; Gore, Martin; Nicol, David L.; Hazell, Steven; Stamp, Gordon; O'Brien, Tim; Challacombe, Ben; Matthews, Nik; Phillimore, Benjamin; Begum, Sharmin; Rabinowitz, Adam; Varela, Ignacio; Chandra, Ashish; Horsfield, Catherine; Polson, Alexander; Tran, Maxine; Bhatt, Rupesh; Terracciano, Luigi; Eppenberger-Castori, Serenella; Protheroe, Andrew; Maher, Eamonn; El Bahrawy, Mona; Fleming, Stewart; Ratcliffe, Peter; Heinimann, Karl; Swanton, Charles; Tomlinson, Ian Share Save
Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics Wong, Daniel; Lee, Wanseon; Humburg, Peter; Makino, Seiko; Lau, Evelyn; Naranbhai, Vivek; Fairfax, Benjamin P.; Chan, Kenneth; Plant, Katharine; Knight, Julian C. Share Save
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Systematic identification of trans eQTLs as putative drivers of known disease associations Westra, Harm-Jan; Peters, Marjolein J.; Esko, Tonu; Yaghootkar, Hanieh; Schurmann, Claudia; Kettunen, Johannes; Christiansen, Mark W.; Fairfax, Benjamin P.; Schramm, Katharina; Powell, Joseph E.; Zhernakova, Alexandra; Zhernakova, Daria V.; Veldink, Jan H.; Van den Berg, Leonard H.; Karjalainen, Juha; Withoff, Sebo; Uitterlinden, Andre G.; Hofman, Albert; Rivadeneira, Fernando; 't Hoen, Peter A. C.; Reinmaa, Eva; Fischer, Krista; Nelis, Mari; Milani, Lili; Melzer, David; Ferrucci, Luigi; Singleton, Andrew B.; Hernandez, Dena G.; Nalls, Michael A.; Homuth, Georg; Nauck, Matthias; Radke, Doerte; Voelker, Uwe; Perola, Markus; Salomaa, Veikko; Brody, Jennifer; Suchy-Dicey, Astrid; Gharib, Sina A.; Enquobahrie, Daniel A.; Lumley, Thomas; Montgomery, Grant W.; Makino, Seiko; Prokisch, Holger; Herder, Christian; Roden, Michael; Grallert, Harald; Meitinger, Thomas; Strauch, Konstantin; Li, Yang; Jansen, Ritsert C.; Visscher, Peter M.; Knight, Julian C.; Psaty, Bruce M.; Ripatti, Samuli; Teumer, Alexander; Frayling, Timothy M.; Metspalu, Andres; van Meurs, Joyce B. J.; Franke, Lude Share Save
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles Fairfax, Benjamin P.; Makino, Seiko; Radhakrishnan, Jayachandran; Plant, Katharine; Leslie, Stephen; Dilthey, Alexander; Ellis, Peter; Langford, Cordelia; Vannberg, Fredrik O.; Knight, Julian C. Share Save
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy Refaat, Marwan M.; Lubitz, Steven A.; Makino, Seiko; Islam, Zahid; Frangiskakis, J. Michael; Mehdi, Haider; Gutmann, Rebecca; Zhang, Michael L.; Bloom, Heather L.; MacRae, Calum A.; Dudley, Samuel C.; Shalaby, Alaa A.; Weiss, Raul; McNamara, Dennis M.; London, Barry; Ellinor, Patrick T. Share Save
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Lack of replication in polymorphisms reported to be associated with atrial fibrillation Sinner, Moritz F.; Lubitz, Steven A.; Pfeufer, Arne; Makino, Seiko; Beckmann, Britt-Maria; Lunetta, Kathryn L.; Steinbeck, Gerhard; Perz, Siegfried; Rahman, Rosanna; Sonni, Akshata; Greenberg, Steven M.; Furie, Karen L.; Wichmann, H. -Erich; Meitinger, Thomas; Peters, Annette; Benjamin, Emelia J.; Rosand, Jonathan; Ellinor, Patrick T.; Kaeaeb, Stefan Share Save
Independent Susceptibility Markers for Atrial Fibrillation on Chromosome 4q25 Lubitz, Steven A.; Sinner, Moritz F.; Lunetta, Kathryn L.; Makino, Seiko; Pfeufer, Arne; Rahman, Rosanna; Veltman, Caroline E.; Barnard, John; Bis, Joshua C.; Danik, Stephan P.; Sonni, Akshata; Shea, Marisa A.; del Monte, Federica; Perz, Siegfried; Mueller, Martina; Peters, Annette; Greenberg, Steven M.; Furie, Karen L.; van Noord, Charlotte; Boerwinkle, Eric; Stricker, Bruno H. C.; Witteman, Jacqueline; Smith, Jonathan D.; Chung, Mina K.; Heckbert, Susan R.; Benjamin, Emelia J.; Rosand, Jonathan; Arking, Dan E.; Alonso, Alvaro; Kaeaeb, Stefan; Ellinor, Patrick T. Share Save
ACE I/D polymorphism associated with abnormal atrial and atrioventricular conduction in lone atrial fibrillation and structural heart disease: Implications for electrical remodeling Watanabe, Hiroshi; Kaiser, Danie W.; Makino, Seiko; MacRae, Calum A.; Ellinor, Patrick T.; Wasserman, Brian S.; Kannankeril, Prince J.; Donahue, Brian S.; Roden, Dan M.; Darbar, Dawood Share Save
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