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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

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.
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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.

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Number of items: 159.

2016

Abdelkarim, S; Morgan, S; Plagnol, V; Lu, C-H; Adamson, G; Howard, R; Malaspina, A; (2016) CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. BRAIN , 139 E9-U13. 10.1093/brain/awv223.

Cairns, J; Freire-Pritchett, P; Wingett, SW; Várnai, C; Dimond, A; Plagnol, V; Zerbino, D; (2016) CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data. Genome Biol , 17 (1) 127-. 10.1186/s13059-016-0992-2.

Chandra, A; Zhang, F; Gilmour, KC; Webster, D; Plagnol, V; Kumararatne, DS; Burns, SO; (2016) Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter. Journal of Allergy and Clinical Immunology , 137 (3) 940-942.e4. 10.1016/j.jaci.2015.08.049. Green open access
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Davidson, AE; Liskova, P; Evans, CJ; Dudakova, L; Nosková, L; Pontikos, N; Hartmannová, H; (2016) Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. American Journal of Human Genetics , 98 (1) pp. 75-89. 10.1016/j.ajhg.2015.11.018. Green open access
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Hull, S; Arno, G; Holder, GE; Plagnol, V; Gomez, K; Liesner, R; Webster, AR; (2016) The ophthalmic presentation of Hermansky-Pudlak syndrome 6. Br J Ophthalmol 10.1136/bjophthalmol-2015-308067.

Hull, S; Arno, G; Robson, AG; Broadgate, S; Plagnol, V; McKibbin, M; Halford, S; (2016) Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. JAMA Ophthalmol 10.1001/jamaophthalmol.2016.2089.

Hull, S; Malik, AN; Arno, G; Mackay, DS; Plagnol, V; Michaelides, M; Mansour, S; (2016) Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. JAMA Ophthalmol 10.1001/jamaophthalmol.2015.5833.

Hull, S; Owen, N; Islam, F; Tracey-White, D; Plagnol, V; Holder, GE; Michaelides, M; (2016) Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , 57 (3) pp. 1053-1062. 10.1167/iovs.15-17976.

Joyce, PI; Fratta, P; Landman, AS; Mcgoldrick, P; Wackerhage, H; Groves, M; Busam, BS; (2016) Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Human Molecular Genetics , 25 (2) pp. 291-307. 10.1093/hmg/ddv471. Green open access
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Liskova, P; Evans, CJ; Davidson, AE; Zaliova, M; Dudakova, L; Trkova, M; Stranecky, V; (2016) Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. EUROPEAN JOURNAL OF HUMAN GENETICS , 24 (7) pp. 985-991. 10.1038/ejhg.2015.232.

Lo, KK; Karampetsou, E; Boustred, C; Mckay, F; Mason, S; Hi, M; Plagnol, V; (2016) Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. AMERICAN JOURNAL OF HUMAN GENETICS , 98 (1) pp. 34-44. 10.1016/j.ajhg.2015.11.016.

Miller, JR; Lo, KK; Andre, R; Hensman Moss, DJ; Träger, U; Stone, TC; Jones, L; (2016) RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation. Human Molecular Genetics 10.1093/hmg/ddw142. Green open access
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Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; (2016) Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurology , 15 (6) pp. 585-596. 10.1016/S1474-4422(16)00071-5. Green open access
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Nunn, LM; Lopes, LR; Syrris, P; Murphy, C; Plagnol, V; Firman, E; Dalageorgou, C; (2016) Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. EUROPACE , 18 (6) pp. 888-896. 10.1093/europace/euv285.

Oldoni, F; Palmen, J; Giambartolomei, C; Howard, P; Drenos, F; Plagnol, V; Humphries, SE; (2016) Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3. Atherosclerosis , 246 pp. 193-201. 10.1016/j.atherosclerosis.2015.12.009. Green open access
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Pigors, M; Sarig, O; Heinz, L; Plagnol, V; Fischer, J; Mohamad, J; Malchin, N; (2016) Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. Am J Hum Genet , 99 (2) pp. 430-436. 10.1016/j.ajhg.2016.06.004.

Tummala, H; Walne, AJ; Williams, M; Bockett, N; Collopy, L; Cardoso, S; Ellison, A; (2016) DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. AMERICAN JOURNAL OF HUMAN GENETICS , 99 (1) pp. 115-124. 10.1016/j.ajhg.2016.05.002.

Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. 10.1186/s13023-016-0477-0. Green open access
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White, J; Sofat, R; Hemani, G; Shah, T; (2016) Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis. The Lancet Diabetes and Endocrinology 10.1016/S2213-8587(15)00386-1. (In press). Green open access
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2015

AlFawaz, S; Plagnol, V; Wong, FS; Kelsell, DP; (2015) A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. Arch Oral Biol , 60 (7) pp. 982-988. 10.1016/j.archoralbio.2015.02.023.

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 , 56 (4) pp. 2358-2365. 10.1167/iovs.15-16520. Green open access
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Bland, PJ; Chronnell, C; Plagnol, V; Kayserili, H; Kelsell, DP; (2015) A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. Br J Dermatol , 173 (1) pp. 285-287. 10.1111/bjd.13627.

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
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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) pp. 1774-1790. 10.1093/hmg/ddu581.

Curtis, J; Luo, Y; Zenner, HL; Cuchet-Lourenco, 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. NATURE GENETICS , 47 (5) 523-U128. 10.1038/ng.3248.

Davidson, AE; Borasio, E; Liskova, P; Khan, AO; Hassan, H; Cheetham, ME; Plangol, V; (2015) Brittle Cornea Syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial Keratoconus. Investigative Ophthalmology & Visual Science , 56 pp. 578-586. 10.1167/iovs.14-15792. Green open access
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Ekong, R; Emmett, W; Dawson, NL; Futema, M; Plagnol, V; Humphries, SE; Povey, MS; (2015) Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis. Human Mutation , 37 (4) pp. 364-370. 10.1002/humu.22951. Green open access
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El-Asrag, ME; Sergouniotis, PI; McKibbin, M; Plagnol, V; Sheridan, E; Waseem, N; Abdelhamed, Z; (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. AMERICAN JOURNAL OF HUMAN GENETICS , 96 (6) pp. 948-954. 10.1016/j.ajhg.2015.04.006.

Haas, J; Frese, KS; Peil, B; Kloos, W; Keller, A; Nietsch, R; Feng, Z; (2015) Atlas of the clinical genetics of human dilated cardiomyopathy. EUROPEAN HEART JOURNAL , 36 (18) 1123-U43. 10.1093/eurheartj/ehu301.

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. JOURNAL OF MEDICAL GENETICS , 52 (2) pp. 85-94. 10.1136/jmedgenet-2014-102856.

Hull, S; Arno, G; Plagnol, V; Robson, A; Webster, AR; Moore, AT; (2015) Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. ACTA OPHTHALMOLOGICA , 93 (5) E392-E393. 10.1111/aos.12592.

Kanabus, M; Shahni, R; Saldanha, JW; Murphy, E; Plagnol, V; Van't Hoff, W; Heales, S; (2015) Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. JOURNAL OF INHERITED METABOLIC DISEASE , 38 (2) pp. 211-219. 10.1007/s10545-015-9813-0.

Leu, C; Balestrini, S; Maher, B; Hernández-Hernández, L; Gormley, P; Hämäläinen, E; Heggeli, K; (2015) Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine , 2 (9) pp. 1063-1070. 10.1016/j.ebiom.2015.07.005. Green open access
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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) pp. 440-447. 10.1016/j.ajhg.2014.12.026.

Lopes, LR; Murphy, C; Syrris, P; Dalageorgou, C; McKenna, WJ; Elliott, PM; Plagnol, V; (2015) Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy. EUROPEAN JOURNAL OF MEDICAL GENETICS , 58 (11) pp. 611-616. 10.1016/j.ejmg.2015.10.001.

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access
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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) 10.1371/journal.pone.0116845.

Morfopoulou, S; Plagnol, V; (2015) Bayesian mixture analysis for metagenomic community profiling. BIOINFORMATICS , 31 (18) pp. 2930-2938. 10.1093/bioinformatics/btv317.

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.

Nüesch, E; Dale, C; Palmer, TM; White, J; Keating, BJ; van Iperen, EP; Goel, A; (2015) Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis. International Journal of Epidemiology 10.1093/ije/dyv074. (In press). Green open access
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Scheidecker, S; Etard, C; Haren, L; Stoetzel, C; Hull, S; Arno, G; Plagnol, V; (2015) Mutations in TUBGCP4 Alter Microtubule Organization via the gamma-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 96 (4) pp. 666-674. 10.1016/j.ajhg.2015.02.011.

Schoeler, NE; Leu, C; White, J; Plagnol, V; Ellard, S; Matarin, M; Yellen, G; (2015) Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Research , 118 pp. 22-28. 10.1016/j.eplepsyres.2015.10.003. Green open access
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Sergouniotis, PI; McKibbin, M; Robson, AG; Bolz, HJ; De Baere, E; Mueller, PL; Heller, R; (2015) Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , 56 (13) pp. 8083-8090. 10.1167/iovs.15-17604.

Shahni, R; Cale, CM; Anderson, G; Osellame, LD; Hambleton, S; Jacques, S; Wadatilake, Y; (2015) Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain A Journal of Neurology 10.1093/brain/awv182. (In press). Green open access
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Sibley, CR; Emmett, W; Blazquez, L; Faro, A; Haberman, N; Briese, M; Trabzuni, D; (2015) Recursive splicing in long vertebrate genes. NATURE , 521 (7552) 371-+. 10.1038/nature14466.

Tummala, H; Walne, A; Collopy, L; Cardoso, S; de la Fuente, J; Lawson, S; Powell, J; (2015) Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. JOURNAL OF CLINICAL INVESTIGATION , 125 (5) pp. 2151-2160. 10.1172/JCI78963.

Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; (2015) The UK10K project identifies rare variants in health and disease. NATURE , 526 (7571) 82-+. 10.1038/nature14962.

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
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2014

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) pp. 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) pp. 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 IKK beta. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , 134 (1) pp. 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
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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
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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) pp. 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
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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
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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
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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. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , 55 (10) 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 open access
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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
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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
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Record, J; Malinova, D; Zenner, HL; Plagnol, V; Nowak, K; Moulding, D; Bouma, G; (2014) Immunodeficiency and Severe Susceptibility to Bacteria Associated with a Loss-of-Function Homozygous Mutation of MKL1. In: (Proceedings) 16th Biennial Meeting of the European-Society-for-Immunodeficiencies. (pp. S502-S503). SPRINGER/PLENUM PUBLISHERS

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. Green open access
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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) pp. 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
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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) pp. 462-466. 10.1016/j.archoralbio.2012.12.008.

Angulo, I; Vadas, O; Garcon, F; Banham-Hall, E; Plagnol, V; Leahy, TR; Baxendale, H; (2013) Phosphoinositide 3-Kinase delta Gene Mutation Predisposes to Respiratory Infection and Airway Damage. SCIENCE , 342 (6160) pp. 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. MOLECULAR VISION , 19 pp. 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) pp. 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
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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. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (2) pp. 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. HUMAN MUTATION , 34 (3) pp. 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
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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) pp. 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 beta-tubulin 4a cause hereditary dystonia. ANNALS OF NEUROLOGY , 73 (4) pp. 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) pp. 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
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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. JOURNAL OF MEDICAL GENETICS , 50 (4) pp. 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
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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
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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
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Schmidts, M; Arts, HH; Bongers, EMHF; 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. JOURNAL OF MEDICAL GENETICS , 50 (5) pp. 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. JOURNAL OF INVESTIGATIVE DERMATOLOGY , 133 (2) pp. 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
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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) pp. 995-1003. 10.1038/ng.2707.

Thorne, T; Fratta, P; Hanna, MG; Cortese, A; Plagnol, V; Fisher, EM; Stumpf, MPH; (2013) Graphical modelling of molecular networks underlying sporadic inclusion body myositis. MOLECULAR BIOSYSTEMS , 9 (7) pp. 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
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Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisan-Ruiz, C; (2013) KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. HUMAN MUTATION , 34 (2) pp. 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
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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) pp. 448-453. 10.1016/j.ajhg.2013.02.001.

2012

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) pp. 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. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , 130 (6) pp. 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
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Cipriani, V; Leung, H-T; 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 TNXBFKBPLNOTCH4 region of chromosome 6p21.3. HUMAN MOLECULAR GENETICS , 21 (18) pp. 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
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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) pp. 888-892. 10.1016/j.ajhg.2012.03.020.

Lopes, L; Syrris, P; Hubank, M; Giambartolomei, C; Zekavati, A; Dalageorgou, C; Jenkins, S; (2012) GENETIC COMPLEXITY IN HYPERTROPHIC CARDIOMYOPATHY: PRELIMINARY FINDINGS WITH NEXT GENERATION SEQUENCING. In: (Proceedings) 61st Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC). (pp. E1578-E1578). ELSEVIER SCIENCE INC

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. HUMAN MOLECULAR GENETICS , 21 (8) pp. 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. NATURE GENETICS , 44 (11) pp. 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
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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) pp. 127-131. 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
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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) pp. 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) pp. 895-898. 10.1002/gepi.21674.

2011

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
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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
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Sergouniotis, PI; Davidson, AE; Mackay, DS; Lenassi, E; Li, Z; Robson, AG; Yang, X; (2011) Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A(2), Cause Benign Fleck Retina. AMERICAN JOURNAL OF HUMAN GENETICS , 89 (6) pp. 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. NATURE GENETICS , 43 (12) 1193-U45. 10.1038/ng.998.

2010

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.

2009

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) pp. 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; 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
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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.

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; 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.

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) pp. 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
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2005

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
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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) pp. 15324-15328. 10.1073/pnas.0306899100.

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