A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis
Norsworthy, Penny J., Thompson, Andrew G. B., Mok, Tze H., Guntoro, Fernando, Dabin, Luke C., Nihat, Akin, Paterson, Ross W., Schott, Jonathan M., Collinge, John, Mead, Simon, Viré, Emmanuelle A.
Published in Nature communications (07.08.2020)
Published in Nature communications (07.08.2020)
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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
Domin, Jan, Mangion, Jonathan, Cook, H. Terence, Petretto, Enrico, Vyse, Timothy J, Flint, Jonathan, Johnson, Michelle D, Patel, Sheetal G, Pusey, Charles D, Cook, Paul R, Evans, David J, Duda, Mark, Smith, Jennifer, Dong, Rong, Bhangal, Gurjeet, Aitman, Timothy J, Roberton-Lowe, Cheri, Sheehan-Rooney, Kelly, Marshall, Amy J, Boyle, Joseph J, Norsworthy, Penny J, Hodges, Matthew D
Published in Nature (16.02.2006)
Published in Nature (16.02.2006)
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Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease
Johnson, Michelle D, Mueller, Michael, Adamowicz-Brice, Martyna, Collins, Melissa J, Gellert, Pascal, Maratou, Klio, Srivastava, Prashant K, Rotival, Maxime, Butt, Shahena, Game, Laurence, Atanur, Santosh S, Silver, Nicholas, Norsworthy, Penny J, Langley, Sarah R, Petretto, Enrico, Pravenec, Michal, Aitman, Timothy J
Published in PLoS genetics (01.12.2014)
Published in PLoS genetics (01.12.2014)
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Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat
Coan, Philip M, Hummel, Oliver, Garcia Diaz, Ana, Barrier, Marjorie, Alfazema, Neza, Norsworthy, Penny J, Pravenec, Michal, Petretto, Enrico, Hübner, Norbert, Aitman, Timothy J
Published in Disease models & mechanisms (01.03.2017)
Published in Disease models & mechanisms (01.03.2017)
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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
Aitman, Timothy J, Fanciulli, Manuela, Norsworthy, Penny J, Petretto, Enrico, Dong, Rong, Harper, Lorraine, Kamesh, Lavanya, Heward, Joanne M, Gough, Stephen C L, de Smith, Adam, Blakemore, Alexandra I F, Froguel, Philippe, Owen, Catherine J, Pearce, Simon H S, Teixeira, Luis, Guillevin, Loic, Graham, Deborah S Cunninghame, Pusey, Charles D, Cook, H Terence, Vyse, Timothy J
Published in Nature genetics (01.06.2007)
Published in Nature genetics (01.06.2007)
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The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
Vandrovcova, Jana, Thomas, Ellen R.A., Atanur, Santosh S., Norsworthy, Penny J., Neuwirth, Clare, Tan, Yvonne, Kasperaviciute, Dalia, Biggs, Jennifer, Game, Laurence, Mueller, Michael, Soutar, Anne K., Aitman, Timothy J.
Published in Genetics in medicine (01.12.2013)
Published in Genetics in medicine (01.12.2013)
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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Norsworthy, Penny J, Vandrovcova, Jana, Thomas, Ellen R A, Campbell, Archie, Kerr, Shona M, Biggs, Jennifer, Game, Laurence, Soutar, Anne K, Smith, Blair H, Dominiczak, Anna F, Porteous, David J, Morris, Andrew D, Scotland, Generation, Aitman, Timothy J
Published in BMC genetics (23.06.2014)
Published in BMC genetics (23.06.2014)
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Identification of Cd36 ( Fat ) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats
Aitman, Timothy J, Glazier, Anne M, Wallace, Caroline A, Cooper, Lisa D, Norsworthy, Penny J, Wahid, Faisal N, Al-Majali, Khulood M, Trembling, Paul M, Mann, Christopher J, Shoulders, Carol C, Graf, Daniel, Lezin, Elizabeth St, Kurtz, Theodore W, Kren, Vladimir, Pravenec, Michal, Ibrahimi, Azeddine, Abumrad, Nada A, Stanton, Lawrence W, Scott, James
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
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The use of next generation sequencing for detection of mutations in familial hypercholesterolaemia
Vandrovcova, Jana, Norsworthy, Penny J, Thomas, Ellen R.A, Biggs, Jennifer, Neuwirth, Clare, Tan, Yvonne, Game, Laurence, Campbell, Archie, Kerr, Shona M, Smith, Blair H, Dominiczak, Anna, Porteous, David, Morris, Andrew, Soutar, Anne, Aitman, Timothy J
Published in Atherosclerosis (01.12.2013)
Published in Atherosclerosis (01.12.2013)
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Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia
Thomas, Ellen R. A., Atanur, Santosh S., Norsworthy, Penny J., Encheva, Vesela, Snijders, Ambrosius P., Game, Laurence, Vandrovcova, Jana, Siddiq, Afshan, Seed, Mary, Soutar, Anne K., Aitman, Timothy J.
Published in Molecular genetics & genomic medicine (01.09.2013)
Published in Molecular genetics & genomic medicine (01.09.2013)
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fox, Nick C., Galimberti, Daniela, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Published in Nature genetics (01.12.2022)
Published in Nature genetics (01.12.2022)
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Radiation hybrid mapping of 70 rat genes from a data set of differentially expressed genes
Wallace, Caroline A, Ali, Saira, Glazier, Anne M, Norsworthy, Penny J, Carlos, Danilo C, Scott, James, Freeman, Tom C, Stanton, Lawrence W, Kwitek, Anne E, Aitman, Timothy J
Published in Mammalian genome (01.04.2002)
Published in Mammalian genome (01.04.2002)
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Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene
Reynolds, John, Cook, Paul R, Ryan, James J, Norsworthy, Penny J, Glazier, Anne M, Duda, Mark A, Evans, David J, Aitman, Timothy J, Pusey, Ccharles D
Published in Experimental nephrology (01.01.2002)
Published in Experimental nephrology (01.01.2002)
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A high-resolution radiation hybrid map of the proximal region of rat chromosome 4
al-Majali, K M, Glazier, A M, Norsworthy, P J, Wahid, F N, Cooper, L D, Wallace, C A, Scott, J, Lausen, B, Aitman, T J
Published in Mammalian genome (01.05.1999)
Published in Mammalian genome (01.05.1999)
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Genetic Analysis of the Cardiac Methylome at Single Nucleotide Resolution in a Model of Human Cardiovascular Disease: e1004813
Johnson, Michelle D, Mueller, Michael, Adamowicz-Brice, Martyna, Collins, Melissa J, Gellert, Pascal, Maratou, Klio, Srivastava, Prashant K, Rotival, Maxime, Butt, Shahena, Game, Laurence, Atanur, Santosh S, Silver, Nicholas, Norsworthy, Penny J, Langley, Sarah R, Petretto, Enrico, Pravenec, Michal, Aitman, Timothy J
Published in PLoS genetics (01.12.2014)
Published in PLoS genetics (01.12.2014)
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Population genetics Malaria susceptibility and CD36 mutation
Aitman, Timothy J, Cooper, Lisa D, Norsworthy, Penny J, Wahid, Faisal N, Gray, Jennefer K, Curtis, Brian R, McKeigue, Paul M, Kwiatkowski, Dominic, Greenwood, Brian M, Snow, Robert W, Hill, Adrian V, Scott, James
Published in Nature (London) (29.06.2000)
Published in Nature (London) (29.06.2000)
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Malaria susceptibility and CD36 mutation
AITMAN, T. J, COOPER, L. D, HILL, A. V, SCOTT, J, NORSWORTHY, P. J, WAHID, F. N, GRAY, J. K, CURTIS, B. R, MCKEIGUE, P. M, KWIATKOWSKI, D, GREENWOOD, B. M, SNOW, R. W
Published in Nature (London) (29.06.2000)
Published in Nature (London) (29.06.2000)
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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
FANCIULLI, Manuela, NORSWORTHY, Penny J, FROGUEL, Philippe, OWEN, Catherine J, PEARCE, Simon H. S, TEIXEIRA, Luis, GUILLEVIN, Loic, GRAHAM, Deborah S. Cunninghame, PUSEY, Charles D, COOK, H. Terence, VYSE, Timothy J, AITMAN, Timothy J, PETRETTO, Enrico, RONG DONG, HARPER, Lorraine, KAMESH, Lavanya, HEWARD, Joanne M, GOUGH, Stephen C. L, DE SMITH, Adam, BLAKEMORE, Alexandra F
Published in Nature genetics (2007)
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Published in Nature genetics (2007)
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