From GWAS to new biology and treatments in CAD

por Jones, Peter D., Webb, Tom R.
Publicado 2019

Coronary Artery Disease–Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes

por Morris, Gavin E., Braund, Peter S., Moore, Jasbir S., Samani, Nilesh J., Codd, Veryan, Webb, Tom R.
Publicado 2017

Blue cone monochromacy: Causative mutations and associated phenotypes

por Gardner, Jessica C., Michaelides, Michel, Holder, Graham E., Kanuga, Naheed, Webb, Tom R., Mollon, John D., Moore, Anthony T., Hardcastle, Alison J.
Publicado 2009

The Coronary Artery Disease-associated Coding Variant in Zinc Finger C3HC-type Containing 1 (ZC3HC1) Affects Cell Cycle Regulation

por Jones, Peter D., Kaiser, Michael A., Ghaderi Najafabadi, Maryam, McVey, David G., Beveridge, Allan J., Schofield, Christine L., Samani, Nilesh J., Webb, Tom R.
Publicado 2016

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

por Debiec, Radoslaw, Hamby, Stephen E., Jones, Peter D., Coolman, Sue, Asiani, Manish, Kharodia, Shireen, Skinner, Gregory J., Samani, Nilesh J., Webb, Tom R., Bolger, Aidan
Publicado 2020

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

por Liskova, Petra, Gwilliam, Rhian, Filipec, Martin, Jirsova, Katerina, Reinstein Merjava, Stanislava, Deloukas, Panos, Webb, Tom R., Bhattacharya, Shomi S., Ebenezer, Neil D., Morris, Alex G., Hardcastle, Alison J.
Publicado 2012

Influence of a Coronary Artery Disease–Associated Genetic Variant on FURIN Expression and Effect of Furin on Macrophage Behavior

por Zhao, Guojun, Yang, Wei, Wu, Jingchun, Chen, Bairu, Yang, Xu, Chen, Junhui, McVey, David G., Andreadi, Catherine, Gong, Peng, Webb, Tom R., Samani, Nilesh J., Ye, Shu
Publicado 2018

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

por Parfitt, David A., Michael, Gregory J., Vermeulen, Esmeralda G.M., Prodromou, Natalia V., Webb, Tom R., Gallo, Jean-Marc, Cheetham, Michael E., Nicoll, William S., Blatch, Gregory L., Chapple, J. Paul
Publicado 2009

Effects of Coronary Artery Disease–Associated Variants on Vascular Smooth Muscle Cells

por Solomon, Charles U., McVey, David G., Andreadi, Catherine, Gong, Peng, Turner, Lenka, Stanczyk, Paulina J., Khemiri, Sonja, Chamberlain, Julie C., Yang, Wei, Webb, Tom R., Nelson, Christopher P., Samani, Nilesh J., Ye, Shu
Publicado 2022

HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis

por Aravani, Dimitra, Morris, Gavin E., Jones, Peter D., Tattersall, Helena K., Karamanavi, Elisavet, Kaiser, Michael A., Kostogrys, Renata B., Ghaderi Najafabadi, Maryam, Andrews, Sarah L., Nath, Mintu, Ye, Shu, Stringer, Emma J., Samani, Nilesh J., Webb, Tom R.
Publicado 2019

X-linked cataract and Nance-Horan syndrome are allelic disorders

por Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.
Publicado 2009

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

por Van Gucht, Ilse, Krebsova, Alice, Diness, Birgitte Rode, Laga, Steven, Adlam, Dave, Kempers, Marlies, Samani, Nilesh J., Webb, Tom R., Baranowska, Ania A., Van Den Heuvel, Lotte, Perik, Melanie, Luyckx, Ilse, Peeters, Nils, Votypka, Pavel, Macek, Milan, Meester, Josephina, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Publicado 2021

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions

por Debiec, Radoslaw Marek, Hamby, Stephen E, Jones, Peter D, Safwan, Kassem, Sosin, Michael, Hetherington, Simon Lee, Sprigings, David, Sharman, David, Lee, Kelvin, Salahshouri, Pegah, Wheeldon, Nigel, Chukwuemeka, Andrew, Boutziouka, Vasiliki, Elamin, Mohamed, Coolman, Sue, Asiani, Manish, Kharodia, Shireen, Skinner, Gregory J, Samani, Nilesh J, Webb, Tom R, Bolger, Aidan P
Publicado 2022

Functional investigation of the coronary artery disease gene SVEP1

por Winkler, Michael J., Müller, Philipp, Sharifi, Amin M., Wobst, Jana, Winter, Hanna, Mokry, Michal, Ma, Lijiang, van der Laan, Sander W., Pang, Shichao, Miritsch, Benedikt, Hinterdobler, Julia, Werner, Julia, Stiller, Barbara, Güldener, Ulrich, Webb, Tom R., Asselbergs, Folkert W., Björkegren, Johan L. M., Maegdefessel, Lars, Schunkert, Heribert, Sager, Hendrik B., Kessler, Thorsten
Publicado 2020

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2014

Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets

por Lempiäinen, Harri, Brænne, Ingrid, Michoel, Tom, Tragante, Vinicius, Vilne, Baiba, Webb, Tom R., Kyriakou, Theodosios, Eichner, Johannes, Zeng, Lingyao, Willenborg, Christina, Franzen, Oscar, Ruusalepp, Arno, Goel, Anuj, van der Laan, Sander W., Biegert, Claudia, Hamby, Stephen, Talukdar, Husain A., Foroughi Asl, Hassan, Pasterkamp, Gerard, Watkins, Hugh, Samani, Nilesh J., Wittenberger, Timo, Erdmann, Jeanette, Schunkert, Heribert, Asselbergs, Folkert W., Björkegren, Johan L. M.
Publicado 2018

The FES Gene at the 15q26 Coronary-Artery-Disease Locus Inhibits Atherosclerosis

por Karamanavi, Elisavet, McVey, David G., van der Laan, Sander W., Stanczyk, Paulina J., Morris, Gavin E., Wang, Yifan, Yang, Wei, Chan, Kenneth, Poston, Robin N., Luo, Jun, Zhou, Xinmiao, Gong, Peng, Jones, Peter D., Cao, Junjun, Kostogrys, Renata B., Webb, Tom R., Pasterkamp, Gerard, Yu, Haojie, Xiao, Qingzhong, Greer, Peter A., Stringer, Emma J., Samani, Nilesh J., Ye, Shu
Publicado 2022

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing

por Carss, Keren J., Baranowska, Anna A., Armisen, Javier, Webb, Tom R., Hamby, Stephen E., Premawardhana, Diluka, Al-Hussaini, Abtehale, Wood, Alice, Wang, Quanli, Deevi, Sri V. V., Vitsios, Dimitrios, Lewis, Samuel H., Kotecha, Deevia, Bouatia-Naji, Nabila, Hesselson, Stephanie, Iismaa, Siiri E., Tarr, Ingrid, McGrath-Cadell, Lucy, Muller, David W., Dunwoodie, Sally L., Fatkin, Diane, Graham, Robert M., Giannoulatou, Eleni, Samani, Nilesh J., Petrovski, Slavé, Haefliger, Carolina, Adlam, David
Publicado 2020

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia

por Georges, Adrien, Albuisson, Juliette, Berrandou, Takiy, Dupré, Délia, Lorthioir, Aurélien, D’Escamard, Valentina, Di Narzo, Antonio F, Kadian-Dodov, Daniella, Olin, Jeffrey W, Warchol-Celinska, Ewa, Prejbisz, Aleksander, Januszewicz, Andrzej, Bruneval, Patrick, Baranowska, Anna A, Webb, Tom R, Hamby, Stephen E, Samani, Nilesh J, Adlam, David, Fendrikova-Mahlay, Natalia, Hazen, Stanley, Wang, Yu, Yang, Min-Lee, Hunker, Kristina, Combaret, Nicolas, Motreff, Pascal, Chédid, Antoine, Fiquet, Béatrice, Plouin, Pierre-François, Mousseaux, Elie, Azarine, Arshid, Amar, Laurence, Azizi, Michel, Gornik, Heather L, Ganesh, Santhi K, Kovacic, Jason C, Jeunemaitre, Xavier, Bouatia-Naji, Nabila
Publicado 2020

Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation

por Adlam, David, Berrandou, Takiy-Eddine, Georges, Adrien, Nelson, Christopher P., Giannoulatou, Eleni, Henry, Joséphine, Ma, Lijiang, Blencowe, Montgomery, Turley, Tamiel N., Yang, Min-Lee, Chopade, Sandesh, Finan, Chris, Braund, Peter S., Sadeg-Sayoud, Ines, Iismaa, Siiri E., Kosel, Matthew L., Zhou, Xiang, Hamby, Stephen E., Cheng, Jenny, Liu, Lu, Tarr, Ingrid, Muller, David W. M., d’Escamard, Valentina, King, Annette, Brunham, Liam R., Baranowska-Clarke, Ania A., Debette, Stéphanie, Amouyel, Philippe, Olin, Jeffrey W., Patil, Snehal, Hesselson, Stephanie E., Junday, Keerat, Kanoni, Stavroula, Aragam, Krishna G., Butterworth, Adam S., Tweet, Marysia S., Gulati, Rajiv, Combaret, Nicolas, Kadian-Dodov, Daniella, Kalman, Jonathan M., Fatkin, Diane, Hingorani, Aroon D., Saw, Jacqueline, Webb, Tom R., Hayes, Sharonne N., Yang, Xia, Ganesh, Santhi K., Olson, Timothy M., Kovacic, Jason C., Graham, Robert M., Samani, Nilesh J., Bouatia-Naji, Nabila
Publicado 2023