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Number of items: 106.

2014

Brooke, MA; Longhurst, HJ; Plagnol, V; Kirkby, NS; Mitchell, JA; Rüschendorf, F; ... MacDonald, TT; + view all (2014) Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut , 63 (1) 96 - 104. 10.1136/gutjnl-2012-303581.

Burns, SO; Plagnol, V; Gutierrez, BM; Al Zahrani, D; Curtis, J; Gaspar, M; ... Nejentsev, S; + view all (2014) Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ(⋆). J Allergy Clin Immunol 10.1016/j.jaci.2013.12.1093.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; ... Fratta, P; + view all (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging , 35 (6) pp. 1491-1498. 10.1016/j.neurobiolaging.2013.12.029. Green and gold open access
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Djukanović, R; Harrison, T; Johnston, SL; Gabbay, F; Wark, P; Thomson, NC; ... Monk, P; + view all (2014) The Effect of Inhaled Interferon-beta on Worsening of Asthma Symptoms Caused by Viral Infections: a Randomised Trial. Am J Respir Crit Care Med 10.1164/rccm.201312-2235OC.

Futema, M; Plagnol, V; Li, K; Whittall, RA; Neil, HA; Seed, M; ... Humphries, SE; + view all (2014) Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 10.1136/jmedgenet-2014-102405.

Giambartolomei, C; Vukcevic, D; Schadt, EE; Franke, L; Hingorani, AD; Wallace, C; Plagnol, V; (2014) Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics. PLoS Genet , 10 (5) e1004383 - ?. 10.1371/journal.pgen.1004383.

Lo, KK; Boustred, C; Chitty, LS; Plagnol, V; (2014) RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics 10.1093/bioinformatics/btu419.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; ... on behalf of the International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium,; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 10.1093/brain/awu179.

Sergouniotis, PI; Chakarova, C; Murphy, C; Becker, M; Lenassi, E; Arno, G; ... Plagnol, V; + view all (2014) Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy. Am J Hum Genet , 94 (5) 760 - 769. 10.1016/j.ajhg.2014.04.003.

Tummala, H; Kirwan, M; Walne, AJ; Hossain, U; Jackson, N; Pondarre, C; ... Dokal, I; + view all (2014) ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function. Am J Hum Genet , 94 (2) 246 - 256. 10.1016/j.ajhg.2014.01.007.

Zanda, M; Onengut-Gumuscu, S; Walker, N; Shtir, C; Gallo, D; Wallace, C; ... Rich, SS; + view all (2014) A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. PLoS Genet , 10 (5) , Article e1004367. 10.1371/journal.pgen.1004367. Green and gold open access
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2013

Alfawaz, S; Fong, F; Plagnol, V; Wong, FS; Fearne, J; 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.

Angulo, I; Vadas, O; Garçon, F; Banham-Hall, E; Plagnol, V; Leahy, TR; ... Nejentsev, S; + view all (2013) Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science 10.1126/science.1243292.

Ba-Abbad, R; Sergouniotis, PI; Plagnol, V; Robson, AG; Michaelides, M; Holder, GE; Webster, AR; (2013) Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol Vis , 19 2250 - 2259.

Blaydon, DC; Lind, LK; Plagnol, V; Linton, KJ; Smith, FJ; Wilson, NJ; ... Kelsell, DP; + view all (2013) Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma. Am J Hum Genet 10.1016/j.ajhg.2013.06.008.

Borman, AD; Pearce, LR; Mackay, DS; Nagel-Wolfrum, K; Davidson, AE; Henderson, R; ... Moore, AT; + view all (2013) A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity. Hum Mutat 10.1002/humu.22482.

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; ... Muntoni, F; + view all (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312. Green and gold open access
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Davidson, AE; Schwarz, N; Zelinger, L; Stern-Schneider, G; Shoemark, A; Spitzbarth, B; ... Webster, AR; + view all (2013) Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet 10.1016/j.ajhg.2013.06.003.

Davidson, AE; Sergouniotis, PI; Mackay, DS; Wright, GA; Waseem, NH; Michaelides, M; ... Webster, AR; + view all (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.

Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; ... Fisher, EM; + view all (2013) Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry , 85 pp. 506-508. 10.1136/jnnp-2013-306761. Green and gold open access
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Haghighi, A; Scott, CA; Poon, DS; Yaghoobi, R; Saleh-Gohari, N; Plagnol, V; 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.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; ... Houlden, H; + view all (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) 546 - 553. 10.1002/ana.23832.

Hunt, KA; Mistry, V; Bockett, NA; Ahmad, T; Ban, M; Barker, JN; ... van Heel, DA; + view all (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 10.1038/nature12170.

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; ... Houlden, H; + view all (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306483. Green and gold open access
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Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; ... Elliott, PM; + view all (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet , 50 (4) 228 - 239. 10.1136/jmedgenet-2012-101270. Gold open access

Nag, A; Bochukova, EG; Kremeyer, B; Campbell, DD; Muller, H; Valencia-Duarte, AV; ... Ruiz-Linares, A; + view all (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. Green and gold open access
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Rohrer, JD; Beck, J; Plagnol, V; Gordon, E; Lashley, T; Revesz, T; ... Schott, JM; + view all (2013) Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia. J Neurol Neurosurg Psychiatry , 84 (12) pp. 1411-1412. 10.1136/jnnp-2013-306116. Green and gold open access
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Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; ... Mitchison, HM; + view all (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. Green and gold open access
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Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; ... Mitchison, HM; + view all (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.

Scott, CA; Plagnol, V; Nitoiu, D; Bland, PJ; Blaydon, DC; Chronnell, CM; ... Kelsell, DP; + view all (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.

Shah, T; Engmann, J; Dale, C; Shah, S; White, J; Giambartolomei, C; ... UCLEB Consortium,; + view all (2013) Population Genomics of Cardiometabolic Traits: Design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium. PLoS One , 8 (8) e71345 - ?. 10.1371/journal.pone.0071345.

Tarkar, A; Loges, NT; Slagle, CE; Francis, R; Dougherty, GW; Tamayo, JV; ... Omran, H; + view all (2013) DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 10.1038/ng.2707.

Thorne, T; Fratta, P; Hanna, MG; Cortese, A; Plagnol, V; Fisher, EM; Stumpf, MP; (2013) Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Mol Biosyst , 9 (7) 1736 - 1742. 10.1039/c3mb25497f.

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; ... Plagnol, V; + view all (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green and gold open access
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Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; ... Houlden, H; + view all (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green and gold open access
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Walne, AJ; Vulliamy, T; Kirwan, M; Plagnol, V; 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; Etheridge, SL; Risk, JM; Hennies, HC; Gay, LJ; Carroll, R; ... Kelsell, DP; + view all (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.

Burns, SO; Zenner, HL; Plagnol, V; Curtis, J; Mok, K; Eisenhut, M; ... Nejentsev, S; + view all (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; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; ... Wood, NW; + view all (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green and gold open access
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Cipriani, V; Leung, HT; Plagnol, V; Bunce, C; Khan, JC; Shahid, H; ... Yates, JR; + view all (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; Plagnol, V; Whittall, RA; Neil, HA; Simon Broome Register Group,; Humphries, SE; UK10K,; (2012) Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. Journal of Medical Genetics , 49 (10) 644 -649. 10.1136/jmedgenet-2012-101189. Green and gold open access
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Kirwan, M; Walne, AJ; Plagnol, V; Velangi, M; Ho, A; Hossain, U; ... Dokal, I; + view all (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; Syrris, P; Hubank, M; Giambartolomei, C; Zekavati, A; Dalageorgou, C; ... Elliott, P; + view all (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; Uphill, J; Beck, J; Poulter, M; Campbell, T; Lowe, J; ... Collinge, J; + view all (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; Plagnol, V; Tarpey, PS; Lobo, SB; Presneau, N; Szuhai, K; ... Flanagan, AM; + view all (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; Curtis, J; Epstein, M; Mok, KY; Stebbings, E; Grigoriadou, S; ... Nejentsev, S; + view all (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. Gold open access
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Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; ... Houlden, H; + view all (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e. Gold open access

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

Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; 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; Dokal, A; Plagnol, V; Beswick, R; Kirwan, M; de la Fuente, J; ... Dokal, I; + view all (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; Onengut, S; Walker, N; Todd, JA; Clayton, DG; Rich, SS; ... Plagnol, V; + view all (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; Biancheri, P; Di, WL; Plagnol, V; Cabral, R; Brooke, M; ... Kelsell, D; + view all (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; Biancheri, P; Di, WL; Plagnol, V; Cabral, RM; Brooke, MA; ... Kelsell, DP; + view all (2011) Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. NEW ENGL J MED , 365 (16) 1502 - 1508.

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... Wellcome Trust Case-Control Consor,; + view all (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; Howson, JMM; Smyth, DJ; Walker, N; Hafler, JP; Wallace, C; ... Type 1 Diabet Genetics Consortium,; + view all (2011) Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases. PLOS GENET , 7 (8) , Article e1002216. 10.1371/journal.pgen.1002216. Green and gold open access
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Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; ... WTCCC2,; + view all (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. Gold open access

Sergouniotis, PI; Davidson, AE; Mackay, DS; Lenassi, E; Li, Z; Robson, AG; ... Webster, AR; + view all (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; Davidson, AE; Mackay, DS; Li, Z; Yang, X; Plagnol, V; ... Webster, AR; + view all (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. Gold open access

Spencer, CCA; Plagnol, V; Strange, A; Gardner, M; Paisan-Ruiz, C; Band, G; ... Wellcome Trust Case Control Consor,; + view all (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; Ricano-Ponce, I; Li, JK; Deelen, P; Kanterakis, A; Plagnol, V; ... Zheng, HC; + view all (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; Hunt, KA; Bockett, NA; Romanos, J; Mistry, V; Szperl, A; ... van Heel, DA; + view all (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; Hurles, ME; Cardin, N; Pearson, RD; Plagnol, V; Robson, S; ... Wellcome Trust Case Control,; + view all (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; Yang, JHM; Downes, K; Healy, BC; Hunt, KA; Bockett, N; ... Plagnol, V; + view all (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; 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; Plagnol, V; Tarpey, PS; Abidi, F; Fullston, T; Choma, MK; ... Raymond, FL; + view all (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; Clayton, DG; Concannon, P; Akolkar, B; Cooper, JD; Erlich, HA; ... Type 1 Diabet Genetics Consortium,; + view all (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; Fung, E; Esposito, L; Todd, JA; Wicker, LS; Plagnol, V; (2009) Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis. Adv Bioinformatics 476106 - ?. 10.1155/2009/476106. Gold open access

Dendrou, CA; Plagnol, V; Fung, E; Yang, JHM; Downes, K; Cooper, JD; ... Wicker, LS; + view all (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; Maier, LM; Cooper, JD; Plagnol, V; Hinks, A; Simmonds, MJ; ... IMSGC,; + view all (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; Smyth, DJ; Todd, JA; 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; Lohmueller, KE; 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; Plagnol, V; Fitzgerald, T; Redon, R; Marchini, J; Clayton, D; Hurles, ME; (2008) A robust statistical method for case-control association testing with copy number variation. NAT GENET , 40 (10) 1245 - 1252.

Cooper, JD; Smyth, DJ; Smiles, AM; Plagnol, V; Walker, NM; Allen, JE; ... Todd, JA; + view all (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; Uz, E; Wallace, C; Stevens, H; Clayton, D; Ozcelik, T; 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. Green and gold open access
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Smyth, DJ; Cooper, JD; Howson, JMM; Walker, NM; Plagnol, V; Stevens, H; ... Todd, JA; + view all (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; Plagnol, V; Walker, NM; Cooper, JD; Downes, K; Yang, JHM; ... Todd, JA; + view all (2008) Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease. NEW ENGL J MED , 359 (26) 2767 - 2777.

Willcocks, LC; Lyons, PA; Clatworthy, MR; Robinson, JI; Yang, W; Newland, SA; ... Smith, KGC; + view all (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; Rainbow, D; Plagnol, V; Todd, JA; Peterson, LB; Wicker, LS; (2007) Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes. J IMMUNOL , 179 (12) 8341 - 8349.

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

Lowe, CE; Cooper, JD; Brusko, T; Walker, NM; Smyth, DJ; Bailey, R; ... Todd, JA; + view all (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; Toomajian, C; Sherman-Broyles, S; Plagnol, V; Guo, YL; Hu, TT; ... Nordborg, M; + view all (2007) The evolution of selfing in Arabidopsis thaliana. SCIENCE , 317 (5841) 1070 - 1072. 10.1126/science.1143153.

Todd, JA; Walker, NM; Cooper, JD; Smyth, DJ; Downes, K; Plagnol, V; ... Wellcome Trust Case Control Consor,; + view all (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; Padhukasahasram, B; Wall, JD; Marjoram, P; 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; Wall, JD; (2006) Possible ancestral structure in human populations. PLoS Genetics , 2 (7) , Article e105 . 10.1371/journal.pgen.0020105. Green and gold open access
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2005

Nordborg, M; Hu, TT; Ishino, Y; Jhaveri, J; Toomajian, C; Zheng, H; ... Bergelson, J; + view all (2005) The pattern of polymorphism in Arabidopsis thaliana. PLoS Biology , 3 (7) , Article e196 . 10.1371/journal.pbio.0030196. Green and gold open access
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2003

Marjoram, P; Molitor, J; Plagnol, V; 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 Thu Jul 24 04:42:42 2014 BST.