Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer
Guibert, N., Hu, Y., Feeney, N., Kuang, Y., Plagnol, V., Jones, G., Howarth, K., Beeler, J.F., Paweletz, C.P., Oxnard, G.R.
Published in Annals of oncology (01.04.2018)
Published in Annals of oncology (01.04.2018)
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Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA
Remon, J, Caramella, C, Jovelet, C, Lacroix, L, Lawson, A, Smalley, S, Howarth, K, Gale, D, Green, E, Plagnol, V, Rosenfeld, N, Planchard, D, Bluthgen, M V, Gazzah, A, Pannet, C, Nicotra, C, Auclin, E, Soria, J C, Besse, B
Published in Annals of oncology (01.04.2017)
Published in Annals of oncology (01.04.2017)
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Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis
Nüesch, Eveline, Dale, Caroline, Palmer, Tom M, White, Jon, Keating, Brendan J, van Iperen, Erik Pa, Goel, Anuj, Padmanabhan, Sandosh, Asselbergs, Folkert W, Verschuren, W M, Wijmenga, C, Van der Schouw, Y T, Onland-Moret, N C, Lange, Leslie A, Hovingh, G K, Sivapalaratnam, Suthesh, Morris, Richard W, Whincup, Peter H, Wannamethe, Goya S, Gaunt, Tom R, Ebrahim, Shah, Steel, Laura, Nair, Nikhil, Reiner, Alexander P, Kooperberg, Charles, Wilson, James F, Bolton, Jennifer L, McLachlan, Stela, Price, Jacqueline F, Strachan, Mark Wj, Robertson, Christine M, Kleber, Marcus E, Delgado, Graciela, März, Winfried, Melander, Olle, Dominiczak, Anna F, Farrall, Martin, Watkins, Hugh, Leusink, Maarten, Maitland-van der Zee, Anke H, de Groot, Mark Ch, Dudbridge, Frank, Hingorani, Aroon, Ben-Shlomo, Yoav, Lawlor, Debbie A, Amuzu, A, Caufield, M, Cavadino, A, Cooper, J, Davies, T L, Drenos, F, Engmann, J, Finan, C, Giambartolomei, C, Hardy, R, Humphries, S E, Hypponen, E, Kivimaki, M, Kuh, D, Kumari, M, Ong, K, Plagnol, V, Power, C, Richards, M, Shah, S, Shah, T, Sofat, R, Talmud, P J, Wareham, N, Warren, H, Whittaker, J C, Wong, A, Zabaneh, D, Davey Smith, George, Wells, Jonathan C, Leon, David A, Holmes, Michael V, Casas, Juan P
Published in International journal of epidemiology (01.12.2016)
Published in International journal of epidemiology (01.12.2016)
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Journal Article
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
Berry, V, Pontikos, N, Moore, A, Ionides, A C W, Plagnol, V, Cheetham, M E, Michaelides, M
Published in Eye (London) (01.04.2018)
Published in Eye (London) (01.04.2018)
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Journal Article
Clinical validation and utility of InVision ctDNA in advanced non-small cell lung cancer (NSCLC) patients
Remon, J., Mezquita, L., Planchard, D., Jovelet, C., Lacroix, L., Rouleau, E., Howarth, K., Plagnol, V., Morris, C., Green, E., Le Pechoux, C., Caramella, C., Adam, J., Besse, B.
Published in Annals of oncology (01.09.2018)
Published in Annals of oncology (01.09.2018)
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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
Walne, Amanda J, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet
Published in Haematologica (Roma) (01.10.2016)
Published in Haematologica (Roma) (01.10.2016)
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Journal Article
CD226 Gly307Ser association with multiple autoimmune diseases
Hafler, J P, Maier, L M, Cooper, J D, Plagnol, V, Hinks, A, Simmonds, M J, Stevens, H E, Walker, N M, Healy, B, Howson, J M M, Maisuria, M, Duley, S, Coleman, G, Gough, S C L, Worthington, J, Kuchroo, V K, Wicker, L S, Todd, J A
Published in Genes and immunity (01.01.2009)
Published in Genes and immunity (01.01.2009)
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Clinical outcomes in patients with advanced NSCLC treated with targeted therapies, with actionable mutations identified by InVisionFirst ctDNA assay
Remon, J., Mezquita, L., Ortiz-Cuaran, S., Jovelet, C., Lacroix, L., Morris, C., Green, E., Saintigny, P., Besse, B., Swalduz, A., Howarth, K., Rouleau, E., De Kievit, F., Baker-Neblett, K., Roitt, S., Plagnol, V., Perol, M., Planchard, D.
Published in Annals of oncology (01.09.2018)
Published in Annals of oncology (01.09.2018)
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Journal Article
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
Fratta, Pietro, Charnock, James, Collins, Toby, Devoy, Anny, Howard, Robin, Malaspina, Andrea, Orrell, Richard, Sidle, Katie, Clarke, Jan, Shoai, Maryam, Lu, Ching-hua, Hardy, John, Plagnol, Vincent, Fisher, Elizabeth M C
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2014)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2014)
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Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene
AlFawaz, S, Fong, F, Plagnol, V, Wong, F.S.L, Fearne, J, Kelsell, D.P
Published in Archives of oral biology (01.05.2013)
Published in Archives of oral biology (01.05.2013)
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Journal Article
Investigating dysfunctional RNA processing in TDP-43 mouse mutants
Sivakumar, P, Humphrey, J, Ule, A, Bodo, C, Emmett, W, Ricketts, T, Oliveira, H, Wang, E, Housman, D, Greensmith, L, Buratti, E, Baralle, F, Plagnol, V, Acevedo-Arozena, A, Fisher, E.M.C, Fratta, P
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration
Ricketts, T, Fisher, E, Greensmith, L, Fratta, P, Plagnol, V, Baralle, F, Buratti, E, Herzog, J, Gondo, Y, Acevedo-Arozena, A
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
Exome sequencing in a family segregating for celiac disease
Szperl, AM, Ricaño-Ponce, I, Li, JK, Deelen, P, Kanterakis, A, Plagnol, V, van Dijk, F, Westra, HJ, Trynka, G, Mulder, CJ, Swertz, M, Wijmenga, C, Zheng, H Ch
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
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G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies
Cirak, S, Foley, R.A, Herrmann, R, Willer, T, Elisabeth, S, Yau, M, Brodd, L, Torelli, S, Kamynina, A, Vondracek, P, Roper, H, Longman, C, Korinthenberg, R, Marrosu, G, Nurnberg, P, Plagnol, V, Hurles, M, Sewry, C.A, Campbell, K.P, Voit, T, Muntoni, F
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Markov Chain Monte Carlo without Likelihoods
Marjoram, Paul, Molitor, John, Plagnol, Vincent, Tavaré, Simon
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2003)
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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Barrett, Jeffrey C, Clayton, David G, Concannon, Patrick, Akolkar, Beena, Cooper, Jason D, Erlich, Henry A, Julier, Cécile, Morahan, Grant, Nerup, Jørn, Nierras, Concepcion, Plagnol, Vincent, Pociot, Flemming, Schuilenburg, Helen, Smyth, Deborah J, Stevens, Helen, Todd, John A, Walker, Neil M, Rich, Stephen S
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration
Simone, Roberto, Javad, Faiza, Emmett, Warren, Wilkins, Oscar G., Almeida, Filipa Lourenço, Barahona-Torres, Natalia, Zareba-Paslawska, Justyna, Ehteramyan, Mazdak, Zuccotti, Paola, Modelska, Angelika, Siva, Kavitha, Virdi, Gurvir S., Mitchell, Jamie S., Harley, Jasmine, Kay, Victoria A., Hondhamuni, Geshanthi, Trabzuni, Daniah, Ryten, Mina, Wray, Selina, Preza, Elisavet, Kia, Demis A., Pittman, Alan, Ferrari, Raffaele, Manzoni, Claudia, Lees, Andrew, Hardy, John A., Denti, Michela A., Quattrone, Alessandro, Patani, Rickie, Svenningsson, Per, Warner, Thomas T., Plagnol, Vincent, Ule, Jernej, de Silva, Rohan
Published in Nature (London) (03.06.2021)
Published in Nature (London) (03.06.2021)
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