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Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.

Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials


Vincent Plagnol


Vincent Plagnol

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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Number of items: 124.


Arno, G; Hull, S; Robson, AG; Holder, GE; Cheetham, ME; Webster, AR; Plagnol, V; (2015) Lack of interphotoreceptor retinoid binding protein, caused by homozygous mutation of RBP3, is associated with high myopia and retinal dystrophy. Invest Ophthalmol Vis Sci 10.1167/iovs.15-16520.

Brown, JR; Morfopoulou, S; Hubb, J; Emmett, WA; Ip, W; Shah, D; Brooks, T; (2015) Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients. Clin Infect Dis , 60 (6) 881 - 888. 10.1093/cid/ciu940. Green open access

Cooper, NJ; Shtir, CJ; Smyth, DJ; Guo, H; Swafford, AD; Zanda, M; Hurles, ME; (2015) Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum Mol Genet , 24 (6) 1774 - 1790. 10.1093/hmg/ddu581.

Curtis, J; Luo, Y; Zenner, HL; Cuchet-Lourenço, D; Wu, C; Lo, K; Maes, M; (2015) Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. Nat Genet , 47 (5) 523 - 527. 10.1038/ng.3248.

Hufnagel, RB; Arno, G; Hein, ND; Hersheson, J; Prasad, M; Anderson, Y; Krueger, LA; (2015) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet , 52 (2) 85 - 94. 10.1136/jmedgenet-2014-102856.

Kanabus, M; Shahni, R; Saldanha, JW; Murphy, E; Plagnol, V; Hoff, WV; Heales, S; (2015) Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis , 38 (2) 211 - 219. 10.1007/s10545-015-9813-0.

Lin, Z; Zhao, J; Nitoiu, D; Scott, CA; Plagnol, V; Smith, FJ; Wilson, NJ; (2015) Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet , 96 (3) 440 - 447. 10.1016/j.ajhg.2014.12.026.

Mistry, V; Bockett, NA; Levine, AP; Mirza, MM; Hunt, KA; Ciclitira, PJ; Hummerich, H; (2015) Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. PLoS One , 10 (1) e0116845 - ?. 10.1371/journal.pone.0116845.

Nalls, MA; Bras, J; Hernandez, DG; Keller, MF; Majounie, E; Renton, AE; Saad, M; (2015) NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging , 36 (3) 1605.e7 - 1605.12. 10.1016/j.neurobiolaging.2014.07.028.

Scheidecker, S; Etard, C; Haren, L; Stoetzel, C; Hull, S; Arno, G; Plagnol, V; (2015) Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy. Am J Hum Genet , 96 (4) 666 - 674. 10.1016/j.ajhg.2015.02.011.

Wedatilake, Y; Plagnol, V; Anderson, G; Paine, SM; Clayton, PT; Jacques, TS; Rahman, S; (2015) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol , 41 (3) 399 - 402. 10.1111/nan.12190. Green open access


Bland, PJ; Chronnell, C; Plagnol, V; Kayserili, H; Kelsell, DP; (2014) A severe collodion phenotype in newborn period associated with a homozygous missense mutation in ALOX12B. Br J Dermatol 10.1111/bjd.13627.

Borman, AD; Pearce, LR; Mackay, DS; Nagel-Wolfrum, K; Davidson, AE; Henderson, R; Garg, S; (2014) A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat , 35 (3) 289 - 293. 10.1002/humu.22482.

Brooke, MA; Longhurst, HJ; Plagnol, V; Kirkby, NS; Mitchell, JA; Rüschendorf, F; Warner, TD; (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; Hassan, A; (2014) Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. J Allergy Clin Immunol , 134 (1) 215 - 218. 10.1016/j.jaci.2013.12.1093.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; (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 open access

Davidson, AE; Cheong, SS; Hysi, PG; Venturini, C; Plagnol, V; Ruddle, JB; Ali, H; (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One , 9 (8) , Article e104163. 10.1371/journal.pone.0104163. Green open access

Djukanović, R; Harrison, T; Johnston, SL; Gabbay, F; Wark, P; Thomson, NC; Niven, R; (2014) The effect of inhaled IFN-β on worsening of asthma symptoms caused by viral infections. A randomized trial. Am J Respir Crit Care Med , 190 (2) 145 - 154. 10.1164/rccm.201312-2235OC.

Futema, M; Plagnol, V; Li, K; Whittall, RA; Neil, HA; Seed, M; Simon Broome Consortium, .; (2014) Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet , 51 (8) 537 - 544. 10.1136/jmedgenet-2014-102405. Green open access

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) , Article e1004383. 10.1371/journal.pgen.1004383. Green open access

Haas, J; Frese, KS; Peil, B; Kloos, W; Keller, A; Nietsch, R; Feng, Z; (2014) Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 10.1093/eurheartj/ehu301.

Hill, M; Wright, D; Daley, R; Lewis, C; McKay, F; Mason, S; Lench, N; (2014) Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth , 14 (1) , Article 229. 10.1186/1471-2393-14-229. Green open access

Hull, S; Arno, G; Plagnol, V; Chamney, S; Russell-Eggitt, I; Thompson, D; Ramsden, SC; (2014) The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci , 55 (10) 6934 - 6944. 10.1167/iovs.14-14715.

Hull, S; Arno, G; Plagnol, V; Robson, A; Webster, AR; Moore, AT; (2014) Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. Acta Ophthalmol 10.1111/aos.12592.

Lo, KK; Boustred, C; Chitty, LS; Plagnol, V; (2014) RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics , 30 (20) pp. 2965-2967. 10.1093/bioinformatics/btu419. Green open access

Lopes, LR; Syrris, P; Guttmann, OP; O'Mahony, C; Tang, HC; Dalageorgou, C; Jenkins, S; (2014) Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart 10.1136/heartjnl-2014-306387. (In press). Green open access

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access

Sergouniotis, PI; Chakarova, C; Murphy, C; Becker, M; Lenassi, E; Arno, G; Lek, M; (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. Gold open access

Tummala, H; Kirwan, M; Walne, AJ; Hossain, U; Jackson, N; Pondarre, C; Plagnol, V; (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; Smyth, D; (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 open access


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; Baxendale, H; (2013) Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science , 342 (6160) 866 - 871. 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; McLean, WH; (2013) Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet , 93 (2) 330 - 335. 10.1016/j.ajhg.2013.06.008.

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; (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 open access

Davidson, AE; Schwarz, N; Zelinger, L; Stern-Schneider, G; Shoemark, A; Spitzbarth, B; Gross, M; (2013) Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet , 93 (2) 321 - 329. 10.1016/j.ajhg.2013.06.003.

Davidson, AE; Sergouniotis, PI; Mackay, DS; Wright, GA; Waseem, NH; Michaelides, M; Holder, GE; (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; Orrell, R; (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 open access

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; Pittman, A; (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; Barrett, JC; (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature , 498 (7453) 232 - 235. 10.1038/nature12170.

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; (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 open access

Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; Jenkins, S; (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; Cardona, J; (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 open access

Rohrer, JD; Beck, J; Plagnol, V; Gordon, E; Lashley, T; Revesz, T; Janssen, JC; (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 open access

Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; (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 open access

Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; (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; Poon, DS; (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; McLachlan, S; (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) , Article e71345. 10.1371/journal.pone.0071345. Green open access

Tarkar, A; Loges, NT; Slagle, CE; Francis, R; Dougherty, GW; Tamayo, JV; Shook, B; (2013) DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet , 45 (9) 995 - 1003. 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; Walker, R; (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 open access

Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; (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; Land, JM; (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access

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.


Blaydon, DC; Etheridge, SL; Risk, JM; Hennies, HC; Gay, LJ; Carroll, R; Plagnol, V; (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; Kumararatne, D; (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; Rubio-Agusti, I; (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 open access

Cipriani, V; Leung, HT; Plagnol, V; Bunce, C; Khan, JC; Shahid, H; Moore, AT; (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 open access

Kirwan, M; Walne, AJ; Plagnol, V; Velangi, M; Ho, A; Hossain, U; Vulliamy, T; (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.


Mead, S; Uphill, J; Beck, J; Poulter, M; Campbell, T; Lowe, J; Adamson, G; (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; Halai, D; (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; Wood, NW; (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

Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; (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. Green open access

Walne, AJ; Dokal, A; Plagnol, V; Beswick, R; Kirwan, M; de la Fuente, J; Vulliamy, T; (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; Hurles, ME; (2012) Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship. Genet Epidemiol , 36 (8) 895 - 898. 10.1002/gepi.21674.


Blaydon, D; Biancheri, P; Di, WL; Plagnol, V; Cabral, R; Brooke, M; Martin, J; (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; van Heel, DA; (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; Simon-Sanchez, J; (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; Stevens, H; (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 open access

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access

Sergouniotis, PI; Davidson, AE; Mackay, DS; Lenassi, E; Li, Z; Robson, AG; Yang, X; (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; Moore, AT; (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; Barker, RA; (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; van Dijk, F; (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; Bakker, SF; (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.


Craddock, N; Hurles, ME; Cardin, N; Pearson, RD; Plagnol, V; Robson, S; Vukcevic, D; (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; Franke, L; (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; Boucher, CA; (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.


Barrett, JC; Clayton, DG; Concannon, P; Akolkar, B; Cooper, JD; Erlich, HA; Julier, C; (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; Nutland, S; (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; Stevens, HE; (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.


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; Downes, K; (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 open access

Smyth, DJ; Cooper, JD; Howson, JMM; Walker, NM; Plagnol, V; Stevens, H; Clayton, DG; (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; Howson, JMM; (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; Plagnol, V; (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.


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; Ecker, JR; (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; Bourget, K; (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; Clark, RM; (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; Bailey, R; (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.


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 open access


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


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 23 12:54:57 2015 BST.

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