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Number of items: 84.

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.

Hunt, KA and Mistry, V and Bockett, NA and Ahmad, T and Ban, M and Barker, JN and Barrett, JC and Blackburn, H and Brand, O and Burren, O and Capon, F and Compston, A and Gough, SC and Jostins, L and Kong, Y and Lee, JC and Lek, M and Macarthur, DG and Mansfield, JC and Mathew, CG and Mein, CA and Mirza, M and Nutland, S and Onengut-Gumuscu, S and Papouli, E and Parkes, M and Rich, SS and Sawcer, S and Satsangi, J and Simmonds, MJ and Trembath, RC and Walker, NM and Wozniak, E and Todd, JA and Simpson, MA and Plagnol, V and van Heel, DA (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 10.1038/nature12170.

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.
 file

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.
 file

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.

Sunnåker, M and Busetto, AG and Numminen, E and Corander, J and Foll, M and Dessimoz, C (2013) Approximate Bayesian Computation. In: PLoS Computational Biology.
An open access publication

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. A version is also available from UCL Discovery.
 file

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.
 file

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

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 Wed Jun 19 01:10:22 2013 BST.