UK Parkinson's Disease Consortium

UK Parkinson's Disease Consortium - UKPDC

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    • Jose Miguel Bras
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Vincent Plagnol

(Lecturer)

Vincent was educated in Paris, France, where he obtained his Bachelor of Mathematics at the Ecole Normale Superieure. He then started working in the field of applied mathematics and statistics and following a MS in Theoretical Probability Theory he started his PhD in Applied Mathematics and Computational Biology  at the University of Southern California, Los Angeles, under the supervision of Simon Tavare. Following this PhD he moved in 2006 to the University of Cambridge and the Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory to study the genetics of autoimmune disorders, in particular type 1 diabetes. He then joined the UCL Genetics Institute in October 2009.

Vincent is interested in genetics in a broad sense, with a particular interest for autoimmune disorders. His research interest consists in using genetics data as a tool to investigate the molecular mechanisms underlying complex disorders.  To achieve this goal typical tools include gene expression studies, high throughput sequencing of analysis but also analysis of protein data, for example by flow cytometry.

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Lab website

Link to publications

Jump to: 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003

Number of items: 83.

2013

Alfawaz, S and Fong, F and Plagnol, V and Wong, FS and Fearne, J and Kelsell, DP (2013) Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol , 58 (5) 462 - 466. 10.1016/j.archoralbio.2012.12.008.

Cirak, S and Foley, AR and Herrmann, R and Willer, T and Yau, S and Stevens, E and Torelli, S and Brodd, L and Kamynina, A and Vondracek, P and Roper, H and Longman, C and Korinthenberg, R and Marrosu, G and Nürnberg, P and UK10K Consortium, and Michele, DE and Plagnol, V and Hurles, M and Moore, SA and Sewry, CA and Campbell, KP and Voit, T and Muntoni, F (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (Pt 1) 269 - 281. 10.1093/brain/aws312. An open access publication

Davidson, AE and Sergouniotis, PI and Mackay, DS and Wright, GA and Waseem, NH and Michaelides, M and Holder, GE and Robson, AG and Moore, AT and Plagnol, V and Webster, AR (2013) RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat , 34 (3) 506 - 514. 10.1002/humu.22264.

Haghighi, A and Scott, CA and Poon, DS and Yaghoobi, R and Saleh-Gohari, N and Plagnol, V and Kelsell, DP (2013) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol , 133 (2) 571 - 573. 10.1038/jid.2012.289.

Lopes, LR and Zekavati, A and Syrris, P and Hubank, M and Giambartolomei, C and Dalageorgou, C and Jenkins, S and McKenna, W and Uk10k Consortium, and Plagnol, V and Elliott, PM (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet , 50 (4) 228 - 239. 10.1136/jmedgenet-2012-101270. An open access publication

Nag, A and Bochukova, EG and Kremeyer, B and Campbell, DD and Muller, H and Valencia-Duarte, AV and Cardona, J and Rivas, IC and Mesa, SC and Cuartas, M and Garcia, J and Bedoya, G and Cornejo, W and Herrera, LD and Romero, R and Fournier, E and Reus, VI and Lowe, TL and Farooqi, IS and Tourette Syndrome Association International Consortium for Genetics, and Mathews, CA and McGrath, LM and Yu, D and Cook, E and Wang, K and Scharf, JM and Pauls, DL and Freimer, NB and Plagnol, V and Ruiz-Linares, A (2013) CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1. PLoS One , 8 (3) , Article e59061 . 10.1371/journal.pone.0059061. An open access publication. A version is also available from UCL Discovery.

Schmidts, M and Arts, HH and Bongers, EM and Yap, Z and Oud, MM and Antony, D and Duijkers, L and Emes, RD and Stalker, J and Yntema, JB and Plagnol, V and Hoischen, A and Gilissen, C and Forsythe, E and Lausch, E and Veltman, JA and Roeleveld, N and Superti-Furga, A and Kutkowska-Kazmierczak, A and Kamsteeg, EJ and Elçioglu, N and van Maarle, MC and Graul-Neumann, LM and Devriendt, K and Smithson, SF and Wellesley, D and Verbeek, NE and Hennekam, RC and Kayserili, H and Scambler, PJ and Beales, PL and UK10K,, and Knoers, NV and Roepman, R and Mitchison, HM (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet , 50 (5) 309 - 323. 10.1136/jmedgenet-2012-101284. An open access publication. A version is also available from UCL Discovery.

Scott, CA and Plagnol, V and Nitoiu, D and Bland, PJ and Blaydon, DC and Chronnell, CM and Poon, DS and Bourn, D and Gárdos, L and Császár, A and Tihanyi, M and Rustin, M and Burrows, NP and Bennett, C and Harper, JI and Conrad, B and Verma, IC and Taibjee, SM and Moss, C and O'Toole, EA and Kelsell, DP (2013) Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol , 133 (2) 573 - 576. 10.1038/jid.2012.332.

Thorne, T and Fratta, P and Hanna, MG and Cortese, A and Plagnol, V and Fisher, EM and Stumpf, MP (2013) Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Mol Biosyst 10.1039/c3mb25497f.

Tucci, A and Kara, E and Schossig, A and Wolf, NI and Plagnol, V and Fawcett, K and Paisán-Ruiz, C and Moore, M and Hernandez, D and Musumeci, S and Tennison, M and Hennekam, R and Palmeri, S and Malandrini, A and Raskin, S and Donnai, D and Hennig, C and Tzschach, A and Hordijk, R and Bast, T and Wimmer, K and Lo, CN and Shorvon, S and Mefford, H and Eichler, EE and Hall, R and Hayes, I and Hardy, J and Singleton, A and Zschocke, J and Houlden, H (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Walne, AJ and Vulliamy, T and Kirwan, M and Plagnol, V and Dokal, I (2013) Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet , 92 (3) 448 - 453. 10.1016/j.ajhg.2013.02.001.

2012

Blaydon, DC and Etheridge, SL and Risk, JM and Hennies, HC and Gay, LJ and Carroll, R and Plagnol, V and McRonald, FE and Stevens, HP and Spurr, NK and Bishop, DT and Ellis, A and Jankowski, J and Field, JK and Leigh, IM and South, AP and Kelsell, DP (2012) RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet , 90 (2) 340 - 346. 10.1016/j.ajhg.2011.12.008.

Brooke, MA and Longhurst, HJ and Plagnol, V and Kirkby, NS and Mitchell, JA and Rüschendorf, F and Warner, TD and Kelsell, DP and Macdonald, TT (2012) Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut 10.1136/gutjnl-2012-303581.

Burns, SO and Zenner, HL and Plagnol, V and Curtis, J and Mok, K and Eisenhut, M and Kumararatne, D and Doffinger, R and Thrasher, AJ and Nejentsev, S (2012) LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol , 130 (6) 1428 - 1432. 10.1016/j.jaci.2012.07.035.

Charlesworth, G and Plagnol, V and Holmström, KM and Bras, J and Sheerin, UM and Preza, E and Rubio-Agusti, I and Ryten, M and Schneider, SA and Stamelou, M and Trabzuni, D and Abramov, AY and Bhatia, KP and Wood, NW (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024.

Cipriani, V and Leung, HT and Plagnol, V and Bunce, C and Khan, JC and Shahid, H and Moore, AT and Harding, SP and Bishop, PN and Hayward, C and Campbell, S and Armbrecht, AM and Dhillon, B and Deary, IJ and Campbell, H and Dunlop, M and Dominiczak, AF and Mann, SS and Jenkins, SA and Webster, AR and Bird, AC and Lathrop, M and Zelenika, D and Souied, EH and Sahel, JA and Léveillard, T and French AMD Investigators, and Cree, AJ and Gibson, J and Ennis, S and Lotery, AJ and Wright, AF and Clayton, DG and Yates, JR (2012) Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet , 21 (18) 4138 - 4150. 10.1093/hmg/dds225.

Futema, M and Plagnol, V and Whittall, RA and Neil, HA and Simon Broome Register Group, and Humphries, SE and UK10K, (2012) Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet , 49 (10) 644 - 649. 10.1136/jmedgenet-2012-101189. An open access publication

Hersheson, J and Mencacci, NE and Davis, M and Macdonald, N and Trabzuni, D and Ryten, M and Pittman, A and Paudel, R and Kara, E and Fawcett, K and Plagnol, V and Bhatia, KP and Medlar, AJ and Stanescu, HC and Hardy, J and Kleta, R and Wood, NW and Houlden, H (2012) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 10.1002/ana.23832.

Kirwan, M and Walne, AJ and Plagnol, V and Velangi, M and Ho, A and Hossain, U and Vulliamy, T and Dokal, I (2012) Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet , 90 (5) 888 - 892. 10.1016/j.ajhg.2012.03.020.

Lopes, L and Syrris, P and Hubank, M and Giambartolomei, C and Zekavati, A and Dalageorgou, C and Jenkins, S and Plagnol, V and Elliott, P (2012) GENETIC COMPLEXITY IN HYPERTROPHIC CARDIOMYOPATHY: PRELIMINARY FINDINGS WITH NEXT GENERATION SEQUENCING. In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. (pp. E1578 - E1578).

Mead, S and Uphill, J and Beck, J and Poulter, M and Campbell, T and Lowe, J and Adamson, G and Hummerich, H and Klopp, N and Rückert, IM and Wichmann, HE and Azazi, D and Plagnol, V and Pako, WH and Whitfield, J and Alpers, MP and Whittaker, J and Balding, DJ and Zerr, I and Kretzschmar, H and Collinge, J (2012) Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Hum Mol Genet , 21 (8) 1897 - 1906. 10.1093/hmg/ddr607.

Pillay, N and Plagnol, V and Tarpey, PS and Lobo, SB and Presneau, N and Szuhai, K and Halai, D and Berisha, F and Cannon, SR and Mead, S and Kasperaviciute, D and Palmen, J and Talmud, PJ and Kindblom, LG and Amary, MF and Tirabosco, R and Flanagan, AM (2012) A common single-nucleotide variant in T is strongly associated with chordoma. Nat Genet , 44 (11) 1185 - 1187. 10.1038/ng.2419.

Plagnol, V (2012) A robust statistical model for read count data in exome sequencing experiments and application to copy number variant calling. In: (Proceedings) Royal Statistical Society Merseyside.

Plagnol, V (2012) Role of rare and complex multi allelic copy number variants in human diseases. In: (Proceedings) Genomic Medicine.

Plagnol, V and Curtis, J and Epstein, M and Mok, KY and Stebbings, E and Grigoriadou, S and Wood, NW and Hambleton, S and Burns, SO and Thrasher, AJ and Kumararatne, D and Doffinger, R and Nejentsev, S (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics , 28 (21) 2747 - 2754. 10.1093/bioinformatics/bts526. An open access publication

Sailer, A and Scholz, SW and Gibbs, JR and Tucci, A and Johnson, JO and Wood, NW and Plagnol, V and Hummerich, H and Ding, J and Hernandez, D and Hardy, J and Federoff, HJ and Traynor, BJ and Singleton, AB and Houlden, H (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e. An open access publication

Scott, C and Bland, P and Plagnol, V and Nitoiu, D and Poon, D and O'Toole, E and Kelsell, D (2012) Next-generation sequencing in genetic diagnosis of skin disease. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. e34 - e34).

Tucci, A and Charlesworth, G and Sheerin, UM and Plagnol, V and Wood, NW and Hardy, J (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033.

Walne, AJ and Dokal, A and Plagnol, V and Beswick, R and Kirwan, M and de la Fuente, J and Vulliamy, T and Dokal, I (2012) Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica , 97 (4) 524 - 528. 10.3324/haematol.2011.052787.

Zanda, M and Onengut, S and Walker, N and Todd, JA and Clayton, DG and Rich, SS and Hurles, ME and Plagnol, V (2012) Validity of the Family-Based Association Test for Copy Number Variant Data in the Case of Non-Linear Intensity-Genotype Relationship. Genet Epidemiol 10.1002/gepi.21674.

2011

Blaydon, D and Biancheri, P and Di, WL and Plagnol, V and Cabral, R and Brooke, M and Martin, J and MacDonald, T and Harper, J and Kelsell, D (2011) A homozygous deletion mutation in ADAM17 underlies an autosomal recessive inflammatory skin and bowel disease. In: JOURNAL OF INVESTIGATIVE DERMATOLOGY. (pp. S62 - S62). NATURE PUBLISHING GROUP

Blaydon, DC and Biancheri, P and Di, WL and Plagnol, V and Cabral, RM and Brooke, MA and van Heel, DA and Ruschendorf, F and Toynbee, M and Walne, A and O'Toole, EA and Martin, JE and Lindley, K and Vulliamy, T and Abrams, DJ and MacDonald, TT and Harper, JI and Kelsell, DP (2011) Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. NEW ENGL J MED , 365 (16) 1502 - 1508.

Nalls, MA and Plagnol, V and Hernandez, DG and Sharma, M and Sheerin, UM and Saad, M and Simon-Sanchez, J and Schulte, C and Lesage, S and Sveinbjornsdottir, S and Arepalli, S and Barker, R and Ben-Shlomo, Y and Berendse, HW and Berg, D and Bhatia, K and de Bie, RMA and Biffi, A and Bloem, B and Bochdanovits, Z and Bonin, M and Bras, JM and Brockmann, K and Brooks, J and Burn, DJ and Charlesworth, G and Chen, HL and Chinnery, PF and Chong, S and Clarke, CE and Cookson, MR and Cooper, JM and Corvol, JC and Counsell, C and Damier, P and Dartigues, JF and Deloukas, P and Deuschl, G and Dexter, DT and van Dijk, KD and Dillman, A and Durif, F and Durr, A and Edkins, S and Evans, JR and Foltynie, T and Gao, JJ and Gardner, M and Gibbs, JR and Goate, A and Gray, E and Guerreiro, R and Gustafsson, O and Harris, C and van Hilten, JJ and Hofman, A and Hollenbeck, A and Holton, J and Hu, M and Huang, XM and Huber, H and Hudson, G and Hunt, SE and Huttenlocher, J and Illig, T and Jonsson, PV and Lambert, JC and Langford, C and Lees, A and Lichtner, P and Limousin, P and Lopez, G and Lorenz, D and McNeill, A and Moorby, C and Moore, M and Morris, HR and Morrison, KE and Mudanohwo, E and O'Sullivan, SS and Pearson, J and Perlmutter, JS and Petursson, H and Pollak, P and Post, B and Potter, S and Ravina, B and Revesz, T and Riess, O and Rivadeneira, F and Rizzu, P and Ryten, M and Sawcer, S and Schapira, A and Scheffer, H and Shaw, K and Shoulson, I and Sidransky, E and Smith, C and Spencer, CCA and Stefansson, H and Stockton, JD and Strange, A and Talbot, K and Tanner, CM and Tashakkori-Ghanbaria, A and Tison, F and Trabzuni, D and Traynor, BJ and Uitterlinden, AG and Velseboer, D and Vidailhet, M and Walker, R and van de Warrenburg, B and Wickremaratchi, M and Williams, N and Williams-Gray, CH and Winder-Rhodes, S and Stefansson, K and Martinez, M and Hardy, J and Heutink, P and Brice, A and Gasser, T and Singleton, AB and Wood, NW and Int Parkinson Dis Genomics Consort, and Wellcome Trust Case-Control Consor, (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V (2011) Statistical and computational applications of short read DNA sequencing for viral sequence discovery. In: (Proceedings) International Biometric Society, British and Irish Region, Meeting on Statistical Analysis of Metagenomic Data.

Plagnol, V (2011) From common to rare: the spectrum of genetic variation in autoimmune and primary immunodeficiency disorders. In:

Plagnol, V and Howson, JMM and Smyth, DJ and Walker, N and Hafler, JP and Wallace, C and Stevens, H and Jackson, L and Simmonds, MJ and Bingley, PJ and Gough, SC and Todd, JA and Type 1 Diabet Genetics Consortium, (2011) Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases. PLOS GENET , 7 (8) , Article e1002216. 10.1371/journal.pgen.1002216. An open access publication

Plagnol, V and Nalls, MA and Bras, JM and Hernandez, DG and Sharma, M and Sheerin, UM and Saad, M and Simon-Sanchez, J and Schulte, C and Lesage, S and Sveinbjornsdottir, S and Amouyel, P and Arepalli, S and Band, G and Barker, RA and Bellinguez, C and Ben-Shlomo, Y and Berendse, HW and Berg, D and Bhatia, K and de Bie, RMA and Biffi, A and Bloem, B and Bochdanovits, Z and Bonin, M and Brockmann, K and Brooks, J and Burn, DJ and Charlesworth, G and Chen, HL and Chinnery, PF and Chong, S and Clarke, CE and Cookson, MR and Cooper, JM and Corvol, JC and Counsell, C and Damier, P and Dartigues, JF and Deloukas, P and Deuschl, G and Dexter, DT and van Dijk, KD and Dillman, A and Durif, F and Durr, A and Edkins, S and Evans, JR and Foltynie, T and Freeman, C and Gao, JJ and Gardner, M and Gibbs, JR and Goate, A and Gray, E and Guerreiro, R and Gustafsson, O and Harris, C and Hellenthal, G and van Hilten, JJ and Hofman, A and Hollenbeck, A and Holton, J and Hu, M and Huang, XM and Huber, H and Hudson, G and Hunt, SE and Huttenlocher, J and Illig, T and Jonsson, PV and Langford, C and Lees, A and Lichtner, P and Limousin, P and Lopez, G and Lorenz, D and McNeill, A and Moorby, C and Moore, M and Morris, H and Morrison, KE and Mudanohwo, E and O'Sullivan, SS and Pearson, J and Pearson, R and Perlmutter, JS and Petursson, H and Pirinen, M and Pollak, P and Post, B and Potter, S and Ravina, B and Revesz, T and Riess, O and Rivadeneira, F and Rizzu, P and Ryten, M and Sawcer, S and Schapira, A and Scheffer, H and Shaw, K and Shoulson, I and Sidransky, E and de Silva, R and Smith, C and Spencer, CCA and Stefansson, H and Steinberg, S and Stockton, JD and Strange, A and Su, Z and Talbot, K and Tanner, CM and Tashakkori-Ghanbaria, A and Tison, F and Trabzuni, D and Traynor, BJ and Uitterlinden, AG and Vandrovcova, J and Velseboer, D and Vidailhet, M and Vukcevic, D and Walker, R and van de Warrenburg, B and Weale, ME and Wickremaratchi, M and Williams, N and Williams-Gray, CH and Winder-Rhodes, S and Stefansson, K and Martinez, M and Donnelly, P and Singleton, AB and Hardy, J and Heutink, P and Brice, A and Gasser, T and Wood, NW and WTCCC2, (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLOS GENET , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. An open access publication

Sergouniotis, PI and Davidson, AE and Mackay, DS and Lenassi, E and Li, Z and Robson, AG and Yang, X and Kam, JH and Isaacs, TW and Holder, GE and Jeffery, G and Beck, JA and Moore, AT and Plagnol, V and Webster, AR (2011) Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet , 89 (6) 782 - 791. 10.1016/j.ajhg.2011.11.004.

Sergouniotis, PI and Davidson, AE and Mackay, DS and Li, Z and Yang, X and Plagnol, V and Moore, AT and Webster, AR (2011) Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis. AM J HUM GENET , 89 (1) 183 - 190. 10.1016/j.ajhg.2011.06.002. An open access publication

Spencer, CCA and Plagnol, V and Strange, A and Gardner, M and Paisan-Ruiz, C and Band, G and Barker, RA and Bellenguez, C and Bhatia, K and Blackburn, H and Blackwell, JM and Bramon, E and Brown, MA and Brown, MA and Burn, D and Casas, JP and Chinnery, PF and Clarke, CE and Corvin, A and Craddock, N and Deloukas, P and Edkins, S and Evans, J and Freeman, C and Gray, E and Hardy, J and Hudson, G and Hunt, S and Jankowski, J and Langford, C and Lees, AJ and Markus, HS and Mathew, CG and McCarthy, MI and Morrison, KE and Palmer, CNA and Pearson, JP and Peltonen, L and Pirinen, M and Plomin, R and Potter, S and Rautanen, A and Sawcer, SJ and Su, Z and Trembath, RC and Viswanathan, AC and Williams, NW and Morris, HR and Donnelly, P and Wood, NW and UK Parkinson's Dis Consortium, and Wellcome Trust Case Control Consor, (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21. HUM MOL GENET , 20 (2) 345 - 353. 10.1093/hmg/ddq469.

Szperl, AM and Ricano-Ponce, I and Li, JK and Deelen, P and Kanterakis, A and Plagnol, V and van Dijk, F and Westra, HJ and Trynka, G and Mulder, CJ and Swertz, M and Wijmenga, C and Zheng, HC (2011) Exome sequencing in a family segregating for celiac disease. CLIN GENET , 80 (2) 138 - 147. 10.1111/j.1399-0004.2011.01714.x.

Trynka, G and Hunt, KA and Bockett, NA and Romanos, J and Mistry, V and Szperl, A and Bakker, SF and Bardella, MT and Bhaw-Rosun, L and Castillejo, G and de la Concha, EG and de Almeida, RC and Dias, KR and van Diemen, CC and Dubois, PC and Duerr, RH and Edkins, S and Franke, L and Fransen, K and Gutierrez, J and Heap, GA and Hrdlickova, B and Hunt, S and Plaza Izurieta, L and Izzo, V and Joosten, LA and Langford, C and Mazzilli, MC and Mein, CA and Midah, V and Mitrovic, M and Mora, B and Morelli, M and Nutland, S and Núñez, C and Onengut-Gumuscu, S and Pearce, K and Platteel, M and Polanco, I and Potter, S and Ribes-Koninckx, C and Ricaño-Ponce, I and Rich, SS and Rybak, A and Santiago, JL and Senapati, S and Sood, A and Szajewska, H and Troncone, R and Varadé, J and Wallace, C and Wolters, VM and Zhernakova, A and Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), and PreventCD Study Group, and Wellcome Trust Case Control Consortium (WTCCC), and Thelma, BK and Cukrowska, B and Urcelay, E and Bilbao, JR and Mearin, ML and Barisani, D and Barrett, JC and Plagnol, V and Deloukas, P and Wijmenga, C and van Heel, DA (2011) Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet , 43 (12) 1193 - 1201. 10.1038/ng.998.

2010

Craddock, N and Hurles, ME and Cardin, N and Pearson, RD and Plagnol, V and Robson, S and Vukcevic, D and Barnes, C and Conrad, DF and Giannoulatou, E and Holmes, C and Marchini, JL and Stirrups, K and Tobin, MD and Wain, LV and Yau, C and Aerts, J and Ahmad, T and Andrews, TD and Arbury, H and Attwood, A and Auton, A and Ball, SG and Balmforth, AJ and Barrett, JC and Barroso, I and Barton, A and Bennett, AJ and Bhaskar, S and Blaszczyk, K and Bowes, J and Brand, OJ and Braund, PS and Bredin, F and Breen, G and Brown, MJ and Bruce, IN and Bull, J and Burren, OS and Burton, J and Byrnes, J and Caesar, S and Clee, CM and Coffey, AJ and Connell, JMC and Cooper, JD and Dominiczak, AF and Downes, K and Drummond, HE and Dudakia, D and Dunham, A and Ebbs, B and Eccles, D and Edkins, S and Edwards, C and Elliot, A and Emery, P and Evans, DM and Evans, G and Eyre, S and Farmer, A and Ferrier, IN and Feuk, L and Fitzgerald, T and Flynn, E and Forbes, A and Forty, L and Franklyn, JA and Freathy, RM and Gibbs, P and Gilbert, P and Gokumen, O and Gordon-Smith, K and Gray, E and Green, E and Groves, CJ and Grozeva, D and Gwilliam, R and Hall, A and Hammond, N and Hardy, M and Harrison, P and Hassanali, N and Hebaishi, H and Hines, S and Hinks, A and Hitman, GA and Hocking, L and Howard, E and Howard, P and Howson, JMM and Hughes, D and Hunt, S and Isaacs, JD and Jain, M and Jewell, DP and Johnson, T and Jolley, JD and Jones, IR and Jones, LA and Kirov, G and Langford, CF and Lango-Allen, H and Lathrop, GM and Lee, J and Lee, KL and Lees, C and Lewis, K and Lindgren, CM and Maisuria-Armer, M and Maller, J and Mansfield, J and Martin, P and Massey, DCO and McArdle, WL and McGuffin, P and McLay, KE and Mentzer, A and Mimmack, ML and Morgan, AE and Morris, AP and Mowat, C and Myers, S and Newman, W and Nimmo, ER and O'Donovan, MC and Onipinla, A and Onyiah, I and Ovington, NR and Owen, MJ and Palin, K and Parnell, K and Pernet, D and Perry, JRB and Phillips, A and Pinto, D and Prescott, NJ and Prokopenko, I and Quail, MA and Rafelt, S and Rayner, NW and Redon, R and Reid, DM and Renwick, A and Ring, SM and Robertson, N and Russell, E and St Clair, D and Sambrook, JG and Sanderson, JD and Schuilenburg, H and Scott, CE and Scott, R and Seal, S and Shaw-Hawkins, S and Shields, BM and Simmonds, MJ and Smyth, DJ and Somaskantharajah, E and Spanova, K and Steer, S and Stephens, J and Stevens, HE and Stone, MA and Su, Z and Symmons, DPM and Thompson, JR and Thomson, W and Travers, ME and Turnbull, C and Valsesia, A and Walker, M and Walker, NM and Wallace, C and Warren-Perry, M and Watkins, NA and Webster, J and Weedon, MN and Wilson, AG and Woodburn, M and Wordsworth, BP and Young, AH and Zeggini, E and Carter, NP and Frayling, TM and Lee, C and McVean, G and Munroe, PB and Palotie, A and Sawcer, SJ and Scherer, SW and Strachan, DP and Tyler-Smith, C and Brown, MA and Burton, PR and Caulfield, MJ and Compston, A and Farrall, M and Gough, SCL and Hall, AS and Hattersley, AT and Hill, AVS and Mathew, CG and Pembrey, M and Satsangi, J and Stratton, MR and Worthington, J and Deloukas, P and Duncanson, A and Kwiatkowski, DP and McCarthy, MI and Ouwehand, WH and Parkes, M and Rahman, N and Todd, JA and Samani, NJ and Donnelly, P and Wellcome Trust Case Control, (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. NATURE , 464 (7289) 713 - U86. 10.1038/nature08979.

Heap, GA and Yang, JHM and Downes, K and Healy, BC and Hunt, KA and Bockett, N and Franke, L and Dubois, PC and Mein, CA and Dobson, RJ and Albert, TJ and Rodesch, MJ and Clayton, DG and Todd, JA and van Heel, DA and Plagnol, V (2010) Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. HUM MOL GENET , 19 (1) 122 - 134. 10.1093/hmg/ddp473.

Plagnol, V (2010) Multivariate mixture models for scoring copy number variation in genetic association studies. In: (Proceedings) International Biometric Society, International meeting.

Plagnol, V (2010) A genome-wide copy number variant association study for eight common disorders in 16,000 cases and 3,000 controls. In: (Proceedings) European Society of Human Genetics.

Plagnol, V (2010) A genome-wide copy number variant association study for eight common disorders in 16,000 cases and 3,000 controls,. In: (Proceedings) Genomics Disorders.

Plagnol, V (2010) Haplotypes in the IL2RA region associated with diabetes and expression of the IL2RA protein on lymphocytes populations. M S-MED SCI , 26 (3) 236 - 238.

Plagnol, V (2010) Allele specific expression analysis by high throughput sequencing. In: (Proceedings) Southern England Genetic Epidemiology group.

Plagnol, V and Clayton, D (2010) Copy number variant association studies. In: Zeggini, E and Morris, A, (eds.) Analysis of Complex Disease Association Studies. (? - ?). Academic Press

Whibley, AC and Plagnol, V and Tarpey, PS and Abidi, F and Fullston, T and Choma, MK and Boucher, CA and Shepherd, L and Willatt, L and Parkin, G and Smith, R and Futreal, PA and Shaw, M and Boyle, J and Licata, A and Skinner, C and Stevenson, RE and Turner, G and Field, M and Hackett, A and Schwartz, CE and Gecz, J and Stratton, MR and Raymond, FL (2010) Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability. AM J HUM GENET , 87 (2) 173 - 188. 10.1016/j.ajhg.2010.06.017.

2009

Barrett, JC and Clayton, DG and Concannon, P and Akolkar, B and Cooper, JD and Erlich, HA and Julier, C and Morahan, G and Nerup, J and Nierras, C and Plagnol, V and Pociot, F and Schuilenburg, H and Smyth, DJ and Stevens, H and Todd, JA and Walker, NM and Rich, SS and Type 1 Diabet Genetics Consortium, (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. NAT GENET , 41 (6) 703 - 707. 10.1038/ng.381.

Dendrou, CA and Fung, E and Esposito, L and Todd, JA and Wicker, LS and Plagnol, V (2009) Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis. Adv Bioinformatics 476106 - ?. 10.1155/2009/476106. An open access publication

Dendrou, CA and Plagnol, V and Fung, E and Yang, JHM and Downes, K and Cooper, JD and Nutland, S and Coleman, G and Himsworth, M and Hardy, M and Burren, O and Healy, B and Walker, NM and Koch, K and Ouwehand, WH and Bradley, JR and Wareham, NJ and Todd, JA and Wicker, LS (2009) Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. NAT GENET , 41 (9) 1011 - U80. 10.1038/ng.434.

Hafler, JP and Maier, LM and Cooper, JD and Plagnol, V and Hinks, A and Simmonds, MJ and Stevens, HE and Walker, NM and Healy, B and Howson, JMM and Maisuria, M and Duley, S and Coleman, G and Gough, SCL and Worthington, J and Kuchroo, VK and Wicker, LS and Todd, JA and IMSGC, (2009) CD226 Gly307Ser association with multiple autoimmune diseases. GENES IMMUN , 10 (1) 5 - 10. 10.1038/gene.2008.82.

Plagnol, V (2009) Following-up on association studies and fine-mapping of T1D loci. In:

Plagnol, V (2009) Association tests and software for copy number variant data. Hum Genomics , 3 (2) 191 - 194.

Plagnol, V and Smyth, DJ and Todd, JA and Clayton, DG (2009) Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13. BIOSTATISTICS , 10 (2) 327 - 334. 10.1093/biostatistics/kxn039.

Wall, JD and Lohmueller, KE and Plagnol, V (2009) Detecting Ancient Admixture and Estimating Demographic Parameters in Multiple Human Populations. MOL BIOL EVOL , 26 (8) 1823 - 1827. 10.1093/molbev/msp096.

2008

Barnes, C and Plagnol, V and Fitzgerald, T and Redon, R and Marchini, J and Clayton, D and Hurles, ME (2008) A robust statistical method for case-control association testing with copy number variation. NAT GENET , 40 (10) 1245 - 1252.

Cooper, JD and Smyth, DJ and Smiles, AM and Plagnol, V and Walker, NM and Allen, JE and Downes, K and Barrett, JC and Healy, BC and Mychaleckyj, JC and Warram, JH and Todd, JA (2008) Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. NAT GENET , 40 (12) 1399 - 1401. 10.1038/ng.249.

Plagnol, V (2008) Genotyping methods for association studies. In: (Proceedings) ECNIS workshop.

Plagnol, V (2008) Shared genetic association between a disease and a quantitative trait: evidence for a common causal variant? In: (Proceedings) International Biometric Society, International meeting.

Plagnol, V and Uz, E and Wallace, C and Stevens, H and Clayton, D and Ozcelik, T and Todd, JA (2008) Extreme Clonality in Lymphoblastoid Cell Lines with Implications for Allele Specific Expression Analyses. PLOS ONE , 3 (8) , Article e2966. 10.1371/journal.pone.0002966. An open access publication. A version is also available from UCL Discovery.

Smyth, DJ and Cooper, JD and Howson, JMM and Walker, NM and Plagnol, V and Stevens, H and Clayton, DG and Todd, JA (2008) PTPN22 Trp(620) explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. DIABETES , 57 (6) 1730 - 1737. 10.2337/db07-1131.

Smyth, DJ and Plagnol, V and Walker, NM and Cooper, JD and Downes, K and Yang, JHM and Howson, JMM and Stevens, H and McManus, R and Wijmenga, C and Heap, GA and Dubois, PC and Clayton, DG and Hunt, KA and van Heel, DA and Todd, JA (2008) Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease. NEW ENGL J MED , 359 (26) 2767 - 2777.

Willcocks, LC and Lyons, PA and Clatworthy, MR and Robinson, JI and Yang, W and Newland, SA and Plagnol, V and McGovern, NN and Condliffe, AM and Chilvers, ER and Adu, D and Jolly, EC and Watts, R and Lau, YL and Morgan, AW and Nash, G and Smith, KGC (2008) Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J EXP MED , 205 (7) 1573 - 1582. 10.1084/jem.20072413.

2007

Hunter, K and Rainbow, D and Plagnol, V and Todd, JA and Peterson, LB and Wicker, LS (2007) Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes. J IMMUNOL , 179 (12) 8341 - 8349.

Kim, S and Plagnol, V and Hu, TT and Toomajian, C and Clark, RM and Ossowski, S and Ecker, JR and Weigel, D and Nordborg, M (2007) Recombination and linkage disequilibrium in Arabidopsis thaliana. NAT GENET , 39 (9) 1151 - 1155. 10.1038/ng2115.

Lowe, CE and Cooper, JD and Brusko, T and Walker, NM and Smyth, DJ and Bailey, R and Bourget, K and Plagnol, V and Field, S and Atkinson, M and Clayton, DG and Wicker, LS and Todd, JA (2007) Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. NAT GENET , 39 (9) 1074 - 1082. 10.1038/ng2102.

Plagnol, V (2007) Type 1 diabetes research after successful association studies: what is next? In: (Proceedings) Joint 2007 EBI/Cambridge University Research Symposium, European Bioinformatics Institute.

Plagnol, V (2007) Inference on copy number variation in case-control data. In: (Proceedings) International Biometric Society, British and Irish Region.

Plagnol, V (2007) JDRF/WT DIL and WTCCC: Results of two type 1 diabetes genome-wide association studies. In: (Proceedings) European Society of Human Genetics.

Plagnol, V (2007) JDRF/WT DIL and WTCCC: Results of two type 1 diabetes genome-wide association studies. In: (Proceedings) Federation of Clinical Immunology Society.

Tang, CL and Toomajian, C and Sherman-Broyles, S and Plagnol, V and Guo, YL and Hu, TT and Clark, RM and Nasrallah, JB and Weigel, D and Nordborg, M (2007) The evolution of selfing in Arabidopsis thaliana. SCIENCE , 317 (5841) 1070 - 1072. 10.1126/science.1143153.

Todd, JA and Walker, NM and Cooper, JD and Smyth, DJ and Downes, K and Plagnol, V and Bailey, R and Nejentsev, S and Field, SF and Payne, F and Lowe, CE and Szeszko, JS and Hafler, JP and Zeitels, L and Yang, JHM and Vella, A and Nutland, S and Stevens, HE and Schuilenburg, H and Coleman, G and Maisuria, M and Meadows, W and Smink, LJ and Healy, B and Burren, OS and Lam, AAC and Ovington, NR and Allen, J and Adlem, E and Leung, HT and Wallace, C and Howson, JMM and Guja, C and Ionescu-Tirgoviste, C and Simmonds, MJ and Heward, JM and Gough, SCL and Dunger, DB and Wicker, LS and Clayton, DG and Genetics Type 1 Diabet Finland, and Wellcome Trust Case Control Consor, (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. NAT GENET , 39 (7) 857 - 864. 10.1038/ng2068.

2006

Plagnol, V (2006) Evidence for ancestral structure in human populations. In: (Proceedings) Molecular Biology and Evolution meeting.

Plagnol, V (2006) Evidence for ancestral structure in human populations. In: (Proceedings) Beyond HapMap: 3 Annual International Community Analysis Meeting.

Plagnol, V and Padhukasahasram, B and Wall, JD and Marjoram, P and Nordborg, M (2006) Relative influences of crossing over and gene conversion on the pattern of linkage disequilibrium in Arabidopsis thaliana. Genetics , 172 (4) 2441 - 2448. 10.1534/genetics.104.040311.

Plagnol, V and Wall, JD (2006) Possible ancestral structure in human populations. PLoS Genet , 2 (7) e105 - ?. 10.1371/journal.pgen.0020105. An open access publication

2005

Nordborg, M and Hu, TT and Ishino, Y and Jhaveri, J and Toomajian, C and Zheng, H and Bakker, E and Calabrese, P and Gladstone, J and Goyal, R and Jakobsson, M and Kim, S and Morozov, Y and Padhukasahasram, B and Plagnol, V and Rosenberg, NA and Shah, C and Wall, JD and Wang, J and Zhao, K and Kalbfleisch, T and Schulz, V and Kreitman, M and Bergelson, J (2005) The pattern of polymorphism in Arabidopsis thaliana. PLoS Biol , 3 (7) e196 - ?. 10.1371/journal.pbio.0030196. An open access publication

2004

Plagnol, V (2004) Approximate Bayesian computations and MCMC. In: Proceedings of Monte Carlo and Quasi-Monte Carlo Methods 2002. (pp. 99 - 114). Springer-Verlag

2003

Marjoram, P and Molitor, J and Plagnol, V and Tavare, S (2003) Markov chain Monte Carlo without likelihoods. Proc Natl Acad Sci U S A , 100 (26) 15324 - 15328. 10.1073/pnas.0306899100.

This list was generated on Sun May 26 02:03:38 2013 BST.