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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.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

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

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

Vincent Plagnol

(Lecturer)

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.

esearcherID


Contact details

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Number of items: 113.

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.

Cooper, NJ; Shtir, CJ; Smyth, DJ; Guo, H; Swafford, AD; Zanda, M; ... Todd, JA; + view all (2014) Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum Mol Genet 10.1093/hmg/ddu581.

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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Davidson, AE; Cheong, SS; Hysi, PG; Venturini, C; Plagnol, V; Ruddle, JB; ... Hardcastle, AJ; + view all (2014) Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness. PLoS One , 9 (8) e104163 - ?. 10.1371/journal.pone.0104163.

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) , Article e1004383. 10.1371/journal.pgen.1004383. Green and gold open access
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Haas, J; Frese, KS; Peil, B; Kloos, W; Keller, A; Nietsch, R; ... Meder, B; + view all (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; ... Chitty, LS; + view all (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 and gold open access
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Hull, S; Arno, G; Plagnol, V; Chamney, S; Russell-Eggitt, I; Thompson, D; ... Webster, AR; + view all (2014) The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci 10.1167/iovs.14-14715.

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 and gold open access
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Lopes, LR; Syrris, P; Guttmann, OP; O'Mahony, C; Tang, HC; Dalageorgou, C; ... Elliott, PM; + view all (2014) Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart 10.1136/heartjnl-2014-306387.

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 , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green and gold open access
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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.

Wedatilake, Y; Plagnol, V; Anderson, G; Paine, S; Clayton, P; Jacques, T; Rahman, S; (2014) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol 10.1111/nan.12190.

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) , Article e71345. 10.1371/journal.pone.0071345. Green and gold open access
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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. Green and gold open access
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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 , 36 (8) 895 - 898. 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 Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green and gold open access
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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
file

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
file

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
file

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.

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