Publications

“Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.” Lancet 380(9844): 815-823.

Amoli MM, Carthy D, Platt H, Ollier WER. EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood. Int J Epidemiol 2008; 37(suppl_1): i41-i45.

Ashworth, J. J., J. V. Smyth, et al. (2005). “The dinucleotide (CA) repeat polymorphism of estrogen receptor beta but not the dinucleotide (TA) repeat polymorphism of estrogen receptor alpha is associated with venous ulceration.” J Steroid Biochem Mol Biol 97(3): 266-270.

Ashworth, J. J., J. V. Smyth, et al. (2008). “Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERbeta) gene ESR2 are associated with venous ulceration.” Clin Genet 73(1): 55-61.

Auroux, P. A., Y. Koc, et al. (2004). “Miniaturised nucleic acid analysis.” Lab Chip 4(6): 534-546.

Betteridge, Z. E., H. Gunawardena, et al. (2009). “Clinical and human leucocyte antigen class II haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK Caucasian adult-onset myositis.” Ann Rheum Dis 68(10): 1621-5.

Bindewald, A., A. C. Bird, et al. (2005). “Classification of fundus autofluorescence patterns in early age-related macular disease.” Invest Ophthalmol Vis Sci 46(9): 3309-3314.

Brown, J., Donev, A., Aslanidis, C., Bracegirdle, P., Dixon, K., Foedinger, M., Gwilliam, R., Hardy, M., Illig, T., Ke, X., Krinka, D., Lagerberg, C., Laiho, P., Lewis, D., McArdle, W., Patton, S., Ring, S., Schmitz, G., Stevens, H., Tybring, G., Wichmann, H., Ollier, W. & Yuille, M (2009). Observational study on variability between biobanks in the estimation of DNA concentration. BMC Res Notes, 2(Epub).

Burwick, R. M., P. P. Ramsay, et al. (2006). “APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers.” Neurology 66(9): 1373-1383.

Carr, E. J., M. R. Clatworthy, et al. (2009). “Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis.” BMC Med Genet 10: 22.

Carr, E. J., H. A. Niederer, et al. (2009). “Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.” BMC Med Genet 10: 121.

Carrol ED, Salway F, Pepper SD, Saunders E, Mankhambo LA, Ollier WE, Hart CA, Day P. Successful downstream application of the Paxgene Blood RNA system from small blood samples in paediatric patients for quantitative PCR analysis. BMC Immunol 2007; 8: 20.

Chinoy, H., N. Fertig, et al. (2007). “The diagnostic utility of myositis autoantibody testing for predicting the risk of cancer-associated myositis.” Ann Rheum Dis 66(10): 1345-9.

Chinoy, H., F. Salway, et al. (2006). “In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype.” Arthritis Res Ther 8(1): R13.

Chinoy, H., F. Salway, et al. (2007). “Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians.” Rheumatology (Oxford) 46(4): 604-7. 

Cipriani, V., H. T. Leung, et al. “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.

Clements DN, Wood S, Carter SD, Ollier WE. Assessment of the quality and quantity of genomic DNA recovered from canine blood samples by three different extraction methods. Res Vet Sci 2008; 85(1): 74-79.

Cohen-Woods, S., D. Gaysina, et al. (2009). “Depression Case Control (DeCC) Study fails to support involvement of the muscarinic acetylcholine receptor M2 (CHRM2) gene in recurrent major depressive disorder.” Hum Mol Genet 18(8): 1504-1509.

Dandekar, S. S., S. A. Jenkins, et al. (2006). “Does smoking influence the type of age related macular degeneration causing visual impairment?” Br J Ophthalmol 90(6): 724-727.

Dandekar, S. S., S. A. Jenkins, et al. (2005). “Autofluorescence imaging of choroidal neovascularization due to age-related macular degeneration.” Arch Ophthalmol 123(11): 1507-1513.

Davidson, Y., L. Gibbons, et al. (2007). “Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer’s disease.” Dement Geriatr Cogn Disord 23(1): 60-66.

Davidson, Y., L. Gibbons, et al. (2006). “Genetic associations between cathepsin D exon 2 C–>T polymorphism and Alzheimer’s disease, and pathological correlations with genotype.” J Neurol Neurosurg Psychiatry 77(4): 515-517.

Davis E, Hampson K, Bray C, Dixon K, Ollier B, Yuille M. Selection and implementation of the ISO9001 standard to support biobanking research infrastructure development: a tool for access to biobanks. Biopreservation and Biobanking (in press)

Davies, G., S. E. Harris, et al. “A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.” Mol Psychiatry.

Davies, G., A. Tenesa, et al. “Genome-wide association studies establish that human intelligence is highly heritable and polygenic.” Mol Psychiatry 16(10): 996-1005.

Day-Williams, A. G., L. Southam, et al. “A variant in MCF2L is associated with osteoarthritis.” Am J Hum Genet 89(3): 446-450.

Devereau A, vanGent D, Crolla J, Bottomley M, Mathieson K, Ollier W, Yuille M, Donnai D, Middleton-Price H. Development of molecular biology laboratory training courses for health care professionals at the Nowgen Centre, The North West Genetics Knowledge Park. J Med Genet. 2009:46:S104-S104.

Edge, K., H. Chinoy, et al. (2006). “Serum alanine aminotransferase elevations correlate with serum creatine phosphokinase levels in myositis.” Rheumatology (Oxford) 45(4): 487-8.

Elliott, K. S., K. Chapman, et al. “Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.” Ann Rheum Dis.

Erdmann, J., A. Grosshennig, et al. (2009). “New susceptibility locus for coronary artery disease on chromosome 3q22.3.” Nat Genet 41(3): 280-282.

European Science Foundation Expert Group on Population Surveys and Biobanking. Population Surveys and Biobanking. ESF: Science Policy Briefing 2008; 32: 1-10.

Evangelou, E., A. M. Valdes, et al. “Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.” Ann Rheum Dis 70(2): 349-355.

Farmer, A., A. Korszun, et al. (2008). “Medical disorders in people with recurrent depression.” Br J Psychiatry 192(5): 351-355.

Feehally, J., M. Farrall, et al. “HLA has strongest association with IgA nephropathy in genome-wide analysis.” J Am Soc Nephrol 21(10): 1791-1797.

Fisher, H. L., S. Cohen-Woods, et al. “Interaction between specific forms of childhood maltreatment and the serotonin transporter gene (5-HTT) in recurrent depressive disorder.” J Affect Disord 145(1): 136-141.

Fisher, H. L., S. Cohen-Woods, et al. “Stressful life events and the serotonin transporter gene (5-HTT) in recurrent clinical depression.” J Affect Disord 136(1-2): 189-193.

Fritsche, L. G., W. Chen, et al. “Seven new loci associated with age-related macular degeneration.” Nat Genet 45(4): 433-439.

Gaysina, D., S. Cohen, et al. (2008). “No association with the 5,10-methylenetetrahydrofolate reductase gene and major depressive disorder: results of the depression case control (DeCC) study and a meta-analysis.” Am J Med Genet B Neuropsychiatr Genet 147B(6): 699-706.

Green, E. K., D. Grozeva, et al. (2009). “P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?” Am J Med Genet B Neuropsychiatr Genet 150B(8): 1063-1069.

Gunawardena, H., L. R. Wedderburn, et al. (2008). “Clinical associations of autoantibodies to a p155/140 kDa doublet protein in juvenile dermatomyositis.” Rheumatology (Oxford) 47(3): 324-8.

Gunawardena, H., L. R. Wedderburn, et al. (2009). “Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis.” Arthritis Rheum 60(6): 1807-14.

Guerin JS, Murray DW, McGrath MM, Yuille MA, McPartlin JM, Doran PP. Molecular Medicine Ireland Guidelines for Standardised Biobanking. Biopreservation and Biobanking 2010; 8:3-63

Hamilton, G., S. E. Harris, et al. “The role of ECE1 variants in cognitive ability in old age and Alzheimer’s disease risk.” Am J Med Genet B Neuropsychiatr Genet 159B(6): 696-709.

Harris J R, Burton B, Knoppers BM, Lindpaintner K, Bledsoe M, Brookes AJ, Budin-Ljøsne I, Chisholm R, Cox D, Deschênes M, Fortier I, Hainaut P, Hewitt R, Kaye J, Litton J-E, Metspalu A, Ollier B, Palmer L, Pasterk M, Riegman PHJ, van Ommen GJ, Yuille M, Zatloukal K. Towards a Roadmap in Global Biobanking for Health. Eur J Hum Gen

Holliday, K. L., W. Thomson, et al. “The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility.” Mol Pain 8: 72.

Hudson, G., K. Panoutsopoulou, et al. “No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.” Ann Rheum Dis 72(1): 136-139.

Jayasekeran, V., N. Pendleton, et al. “Val66Met in brain-derived neurotrophic factor affects stimulus-induced plasticity in the human pharyngeal motor cortex.” Gastroenterology 141(3): 827-836 e821-823.

Juhasz, G., D. Chase, et al. (2009). “CNR1 gene is associated with high neuroticism and low agreeableness and interacts with recent negative life events to predict current depressive symptoms.” Neuropsychopharmacology 34(8): 2019-2027.

Jury F., Morris J., Davis E., Ollier W. E. R., Yuille M.A. Sources of variability between biobanks in the estimation of DNA concentration. Biopreservation and Biobanking (in press).

Kathiresan, S., B. F. Voight, et al. (2009). “Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.” Nat Genet 41(3): 334-341.

Leech M, Salway M, Jury F, Day P, Carthy D, Gaunt L, Hamilton S, Wallace A, Elles R, Devereau A, Crolla J, Bottomley M, Mathieson K, Finegold P, Ollier W, Yuille M, Donnai D, Middleton-Price HR. Development of timely and relevant training courses for healthcare professionals and genetic researchers. J Med Genet. 2009:45;S109-S109.

Lewis, C. M., M. Y. Ng, et al. “Genome-wide association study of major recurrent depression in the U.K. population.” Am J Psychiatry 167(8): 949-957.

Lind, P. A., M. Luciano, et al. (2009). “No association between Cholinergic Muscarinic Receptor 2 (CHRM2) genetic variation and cognitive abilities in three independent samples.” Behav Genet 39(5): 513-523.

Linsel-Nitschke, P., A. Gotz, et al. (2008). “Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease–a Mendelian Randomisation study.” PLoS One 3(8): e2986.

Lopez, L. M., S. E. Harris, et al. “Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.” Eur J Hum Genet 20(3): 341-347.

Luciano, M., J. E. Huffman, et al. “Genome-wide association uncovers shared genetic effects among personality traits and mood states.” Am J Med Genet B Neuropsychiatr Genet 159B(6): 684-695.

Luciano, M., P. A. Lind, et al. (2008). “Testing replication of a 5-SNP set for general cognitive ability in six population samples.” Eur J Hum Genet 16(11): 1388-1395.

Luciano, M., F. Miyajima, et al. (2009). “Variation in the dysbindin gene and normal cognitive function in three independent population samples.” Genes Brain Behav 8(2): 218-227.

Lyons, P. A., T. F. Rayner, et al. “Genetically distinct subsets within ANCA-associated vasculitis.” N Engl J Med 367(3): 214-223.

MacLeod, A. K., G. Davies, et al. “Genetic copy number variation and general cognitive ability.” PLoS One 7(12): e37385.

Mamas MA, Deaton C, Rutter MK, Yuille M, Williams SG, Ray SG, New J, Gibson JM, Neyses L. Impaired glucose tolerance and insulin resistance in heart failure: underrecognized and undertreated? J Card Fail. 2010 Sep;16(9):761-8. Epub 2010 Jul 21. Review. PMID: 20797600

Mann, S. S., Y. Rutishauser-Arnold, et al. “The symmetry of phenotype between eyes of patients with early and late bilateral age-related macular degeneration (AMD).” Graefes Arch Clin Exp Ophthalmol 249(2): 209-214.

McKay, G. J., C. C. Patterson, et al. “Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.” Hum Mutat 32(12): 1407-1416.

McKay, G. J., G. Silvestri, et al. “Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.” Am J Epidemiol 173(12): 1357-1364.

Mekli, K., A. Payton, et al. “The HTR1A and HTR1B receptor genes influence stress-related information processing.” Eur Neuropsychopharmacol 21(1): 129-139.

Meyer, S., D. J. White, et al. (2006). “No evidence of significant silencing of Fanconi genes FANCF and FANCB or Nijmegen breakage syndrome gene NBS1 by DNA hyper-methylation in sporadic childhood leukaemia.” Br J Haematol 134(1): 61-63.

Miyajima, F., W. Ollier, et al. (2008). “Brain-derived neurotrophic factor polymorphism Val66Met influences cognitive abilities in the elderly.” Genes Brain Behav 7(4): 411-417.

Miyajima, F., J. P. Quinn, et al. (2008). “Additive effect of BDNF and REST polymorphisms is associated with improved general cognitive ability.” Genes Brain Behav 7(7): 714-719.

Niederer, H. A., L. C. Willcocks, et al. “Copy number, linkage disequilibrium and disease association in the FCGR locus.” Hum Mol Genet 19(16): 3282-3294.

Nolte, I. M., C. Wallace, et al. (2009). “Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.” PLoS One 4(7): e6138.

Ollier W, Sprosen T, Peakman T. UK Biobank: from concept to reality. Pharmacogenomics 2005; 6(6): 639-646.

Panoutsopoulou, K., L. Southam, et al. “Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.” Ann Rheum Dis 70(5): 864-867.

Payton, A. (2009). “The impact of genetic research on our understanding of normal cognitive ageing: 1995 to 2009.” Neuropsychol Rev 19(4): 451-477.

Payton, A., L. Gibbons, et al. (2005). “Influence of serotonin transporter gene polymorphisms on cognitive decline and cognitive abilities in a nondemented elderly population.” Mol Psychiatry 10(12): 1133-1139.

Payton, A., F. Holland, et al. (2003). “Cathepsin D exon 2 polymorphism associated with general intelligence in a healthy older population.” Mol Psychiatry 8(1): 14-18.

Payton, A., F. Miyajima, et al. “Investigation of a functional quinine oxidoreductase (NQO2) polymorphism and cognitive decline.” Neurobiol Aging 31(2): 351-352.

Payton, A., E. van den Boogerd, et al. (2006). “Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population.” Genes Brain Behav 5 Suppl 1: 23-31.

Pendleton, N., A. Payton, et al. (2002). “Apolipoprotein E genotype does not predict decline in intelligence in healthy older adults.” Neurosci Lett 324(1): 74-76.

Perry, J. R., M. I. McCarthy, et al. (2009). “Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.” Diabetes 58(6): 1463-1467.

Peters, M. J., L. Broer, et al. “Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region.” Ann Rheum Dis 72(3): 427-436.

Power, R. A., R. Keers, et al. “Dissecting the genetic heterogeneity of depression through age at onset.” Am J Med Genet B Neuropsychiatr Genet 159B(7): 859-868.

Ripke, S., N. R. Wray, et al. “A mega-analysis of genome-wide association studies for major depressive disorder.” Mol Psychiatry 18(4): 497-511.

Rivera, M., S. Cohen-Woods, et al. “Depressive disorder moderates the effect of the FTO gene on body mass index.” Mol Psychiatry 17(6): 604-611.

Rucker, J. J., G. Breen, et al. “Genome-wide association analysis of copy number variation in recurrent depressive disorder.” Mol Psychiatry 18(2): 183-189.

Salonen, J. T., P. Uimari, et al. (2007). “Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.” Am J Hum Genet 81(2): 338-345.

Salway F, Day PJR, Ollier WER, Peakman TC. Levels of 5′ RNA tags in plasma and buffy coat from EDTA blood increase with time. Int J Epidemiol 2008; 37(suppl_1): i11-i15.

Samaan, Z., D. Gaysina, et al. “Methylenetetrahydrofolate reductase gene variant(MTHFR C677T) and migraine: a case control study and meta-analysis.” BMC Neurol 11: 66.

 Sawcer, S., G. Hellenthal, et al. “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.” Nature 476(7359): 214-219.

Scholl, H. P., C. Bellmann, et al. (2004). “Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathy.” Invest Ophthalmol Vis Sci 45(2): 574-583.

Schosser, A., A. W. Butler, et al. “Genomewide association scan of suicidal thoughts and behaviour in major depression.” PLoS One 6(7): e20690.

Schosser, A., S. Cohen-Woods, et al. “NRG1 gene in recurrent major depression: no association in a large-scale case-control association study.” Am J Med Genet B Neuropsychiatr Genet 153B(1): 141-147.

Schosser, A., D. Gaysina, et al. “Association of DISC1 and TSNAX genes and affective disorders in the depression case-control (DeCC) and bipolar affective case-control (BACCS) studies.” Mol Psychiatry 15(8): 844-849.

Schosser, A., D. Gaysina, et al. “A follow-up case-control association study of tractable (druggable) genes in recurrent major depression.” Am J Med Genet B Neuropsychiatr Genet 156B(6): 640-650.

Short AD, Kennedy LJ, Forman O, Barnes A, Fretwell N, Wiggall R, Thomson W, Ollier WE. Canine DNA Subjected to Whole Genome Amplification is Suitable for a Wide Range of Molecular Applications. J Hered 2005; 96(7): 829-835.

Sivaprasad, S., T. Adewoyin, et al. (2007). “Estimation of systemic complement C3 activity in age-related macular degeneration.” Arch Ophthalmol 125(4): 515-519.

Sofat, R., J. P. Casas, et al. “Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.” Int J Epidemiol 41(1): 250-262.

Southam, L., K. Panoutsopoulou, et al. “The effect of genome-wide association scan quality control on imputation outcome for common variants.” Eur J Hum Genet 19(5): 610-614.

Stanescu, H. C., M. Arcos-Burgos, et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” N Engl J Med 364(7): 616-626.

Sullivan, P. F., E. J. de Geus, et al. (2009). “Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo.” Mol Psychiatry 14(4): 359-375.

Thathia, S. H., S. Ferguson, et al. “Epigenetic inactivation of TWIST2 in acute lymphoblastic leukemia modulates proliferation, cell survival and chemosensitivity.” Haematologica 97(3): 371-378.

Tregouet, D. A., I. R. Konig, et al. (2009). “Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.” Nat Genet 41(3): 283-285.

Vasant, D. H., A. Payton, et al. “The val66met polymorphism of brain-derived neurotrophic factor is associated with human esophageal hypersensitivity.” Neurogastroenterol Motil 25(2): 162-e185.

Vinkhuyzen, A. A., N. L. Pedersen, et al. “Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion.” Transl Psychiatry 2: e102.

Wedderburn, L. R., N. J. McHugh, et al. (2007). “HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap.” Rheumatology (Oxford) 46(12): 1786-91.

Wichmann HE, Kuhn KA, Waldenberger M, Schmelcher D, Schuffenhauer S, Meitinger. (2011). Comprehensive catalog of European biobanks. Nat Biotechnol.

Willcocks, L. C., P. A. Lyons, et al. (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.

Yuille MA, KornB, MooreT, FarmerA.A, CarrinoJ, PrangeC, HayashizakiY. (2004). The responsibility to share: sharing the responsibility. Genome Res, 14, 10B, 2015-2019.

Yuille, MA, van Ommen, G, Bréchot, C, Cambon-Thomsen, A, Dagher, G, Landegren, U, Litton, J, Pasterk, M, Peltonen, L, Taussig, M, Wichmann, H, Zatloukal, K. (2008). Biobanking for Europe. Brief Bioinform, 9(1), 14-24.

Yuille M, Dixon K, Platt A, Pullum S, Lewis D, Hall A, Ollier W. The UK DNA banking network: a “fair access” biobank. Cell Tissue Bank 2010; 11(3): 241-251.

M Yuille. (2011). Infrastructure vital to genome success. Nature, 10(471), 166.

Yuille M, Illig T, Hveem K, Schmitz G, Hansen J, Neumaier M, Tybring G, Wichmann E, Ollier B. Laboratory management of samples in biobanks – recommendations of a European Consensus Expert Group. Biopreservation and Biobanking 2010;8:65-69. 20133982

Zeggini, E., L. J. Scott, et al. (2008). “Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.” Nat Genet 40(5): 638-645.

Zeggini, E., M. N. Weedon, et al. (2007). “Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.” Science 316(5829): 1336-1341.