Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing von Gallon, R., Kibbi, N., Cook, S., Santibanez‐Koref, M., Jackson, M.S., Burn, J., Rajan, N.

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Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA von Xu, Y, Barter, M.J, Swan, D.C, Rankin, K.S, Rowan, A.D, Santibanez-Koref, M, Loughlin, J, Young, D.A

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Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data von LASTOWSKA, M, VIPREY, V, LEWIS, I, BURCHILL, S. A, JACKSON, M. S, SANTIBANEZ-KOREF, M, WAPPLER, I, PETERS, H, CULLINANE, C, ROBERTS, P, HALL, A. G, TWEDDLE, D. A, PEARSON, A. D. J

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Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome von SIDDLE, K. J, GOODSHIP, J. A, KEAVNEY, B, SANTIBANEZ-KOREF, M. F

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Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture von Lee, K, Santibanez-Koref, M, Polvikoski, T, Birchall, D, Mendelow, A.D, Keavney, B

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The role of the RAS pathway in iAMP21-ALL von Ryan, S L, Matheson, E, Grossmann, V, Sinclair, P, Bashton, M, Schwab, C, Towers, W, Partington, M, Elliott, A, Minto, L, Richardson, S, Rahman, T, Keavney, B, Skinner, R, Bown, N, Haferlach, T, Vandenberghe, P, Haferlach, C, Santibanez-Koref, M, Moorman, A V, Kohlmann, A, Irving, J A E, Harrison, C J

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Germ-line mutations of TP53 in Li-Fraumeni families : An extended study of 39 families von VARLEY, J. M, MCGOWN, G, THORNCROFT, M, SANTIBANEZ-KOREF, M. F, KELSEY, A. M, TRICKER, K. J, EVANS, D. G. R, BIRCH, J. M

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An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance von Teare, M.D., Heighway, J., Santibáñez Koref, M.F.

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Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia von Keogh, M. J., Steele, H., Douroudis, K., Pyle, A., Duff, J., Hussain, R., Smertenko, T., Griffin, H., Santibanez-Koref, M., Horvath, R., Chinnery, P. F.

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Mitochondrial ageing and antiretroviral therapy exposure von Payne, BAI, Hateley, CA, Samuels, DC, Wilson, IJ, Santibanez‐Koref, M, Price, DA, Chinnery, PF

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Functional analysis of the osteoarthritis susceptibility locus residing at the carbohydrate sulfotransferase 11 gene CHST11 von Reynard, L.N, Ratnayake, M, Santibanez-Koref, M, Loughlin, J

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Conservation of polyglutamine tract size between mice and humans depends on codon interruption von Albà, M M, Santibáñez-Koref, M F, Hancock, J M

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Overexpression of aurora B kinase (AURKB) in primary non-small cell lung carcinoma is frequent, generally driven from one allele, and correlates with the level of genetic instabili... von SMITH, S. L, BOWERS, N. L, BETTICHER, D. C, GAUTSCHI, O, RATSCHILLER, D, HOBAN, P. R, BOOTON, R, SANTIBANEZ-KOREF, M. F, HEIGHWAY, J

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An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response? von Ratnayake, M, Plöger, F, Santibanez-Koref, M, Loughlin, J

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Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly von Nabhan, M M, Abdelaziz, H, Xu, Y, El Sayed, R, Santibanez-Koref, M, Soliman, N A, Sayer, J A

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Allelic expression analysis of the osteoarthritis susceptibility locus that MAPS to MICAL3 von Ratnayake, M, Reynard, L.N, Raine, E.V, Santibanez-Koref, M, Loughlin, J

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Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly von Nabhan, M M, Abdelaziz, H, Xu, Y, El Sayed, R, Santibanez-Koref, M, Soliman, N A, Sayer, J A

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Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA von Xu, Y, Barter, M.J, Swan, D.C, Rankin, K.S, Rowan, A.D, Santibanez-Koref, M, Loughlin, J, Young, D.A

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Comparison of osteoarthritis and normal hip cartilage transcriptomes using RNA-seq reveals new candidate gene targets and associated pathways von Xu, Y, Barter, M.J, Swan, D.C, Rankin, K.S, Rowan, A.D, Santibanez-Koref, M, Loughlin, J, Young, D.A

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Universal heteroplasmy of human mitochondrial DNA von Payne, Brendan A I, Wilson, Ian J, Yu-Wai-Man, Patrick, Coxhead, Jonathan, Deehan, David, Horvath, Rita, Taylor, Robert W, Samuels, David C, Santibanez-Koref, Mauro, Chinnery, Patrick F

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