Staff Profile

Research Interests

My general interest is the understanding of causes and consequences of genetic sequence variation. My main current interest is the integration of data obtained using methods such as expression microarrays and other techniques to quantify expression with linkage or association analysis to study phenotypic variation and its relationship with human disease, in particular of common diseases with a complex genetic component. Other areas of interest include mechanisms mediating instability of sequences such as microsatellites and the relationship between phylogenetic and pathological variation in humans.

• Gallon R, Müglegger B, Wenzel S-S, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Feldman HB, Chong AL, Demirsoy U, Florkin B, Imschweller T, Januskiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alanso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human Mutation 2019, 40(5), 649-655.
• Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm C, Ma CS, Sims D, Van Den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de laMorena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. An essential role for the Zn²⁺ transporter ZIP7 in B cell development. Nature Immunology 2019, 20, 350-361.
• Mellough CB, Bauer R, Collin J, Dorgau B, Zert D, Dolan D, Jones C, Izuogu OG, Yu M, Hallam D, Steyn J, White K, Steel DH, Santibanez-Koref M, Elliott DJ, Jackson M, Lindsay S, Magaraja-Grellscheid S, Lako M. An integrated transcriptional analysis of the developing human retina. Development 2019, 146(2), dev169474.
• Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 2019, 46, 302-306.
• Sheth H, McNally D, Santibanez-Koref M, Burn J. Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016. PLoS ONE 2019, 14(6), e0218878.
• Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. Journal of American Academy of Dermatology 2019, 81(6), 1300-1307.
• Redford L, Alhilal G, Needham S, O'Brien O, Coaker J, Tyson J, Amorim LM, Middleton I, Izuogu O, Arends M, Oniscu A, Alonso AM, Laguna SM, Gallon R, Sheth H, Santibanez-Koref M, Jackson MS, Burn J. A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours. PLoS ONE 2018, 13(8), e0203052.
• Izuogu O, Alhasan AA, Mellough C, Collin J, Gallon R, Hyslop J, Mastrorosa FK, Ehrmann I, Lako M, Elliott DJ, Santibanez-Koref M, Jackson MS. Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular. BMC Genomics 2018, 19(1), 276.
• Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Erratum: Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux (Scientific reports (2017) 7 1 (14595)). Scientific Reports 2018, 8(1), 459.
• Sheth H, Northwood E, Ulrich CM, Scherer D, Elliott F, Barrett JH, Forman D, Wolf CR, Smith G, Jackson MS, Santibanez-Koref M, Haile R, Casey G, Jenkins M, Win AK, Hopper JL, Marchand LL, Lindor NM, Thibodeau SN, Potter JD, Burn J, Bishop DT. Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations. PLoS ONE 2018, 13, e0192223.
• Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou F, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock F, O'Sullivan JJ, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney B. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation Research 2018, 124(4), 553-563.
• Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibariez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Reseach 2017, 27(1), 165-173.
• Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific Reports 2017, 7, 14595.
• Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MGC, Swan DJ, Willet JDP, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of Clinical Immunology 2017, 37(1), 42-50.
• Burte F, Houghton D, Lowes H, Pyle A, Nesbitt S, Yarnall A, Yu-Wai-Man P, Burn DJ, Santibanez-Koref M, Hudson G. Metabolic profiling of Parkinson's disease and mild cognitive impairment. Movement Disorders 2017, 32(6), 927–932.
• Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains. Acta Neuropathologica Communications 2017, 5, 17.
• Challis RC, Ring T, Xu Y, Wong EKS, Flossmann O, Roberts ISD, Ahmed S, Wetherall M, Salkus G, Brocklebank B, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship THJ, Kavanagh D. Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease. Journal of the American Society of Nephrology 2017, 28(4), 1084-1091.
• Alhasan A, Izuogu OG, Al-Balool HH, Steyn JS, Evans A, Colzani M, Ghevaert C, Mountford JC, Marenah L, Elliott DJ, Santibanez-Koref M, Jackson MS. Circular RNA enrichment in platelets is a signature of transcriptome degradation. Blood 2016, 127(9), e1-e11.
• Singh Dang T, Willet JDP, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Santibanez Koref M, Reynard LN, Ali S, Hambleton S. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. Journal of Clinical Immunology 2016, 36(2), 117-122.
• Dang TS, Willet JDP, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S. Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency (vol 36, pg 117, 2016). Journal of Clinical Immunology 2016, 36(3), 336-337.
• Izuogu OG, Alhasan AA, Alafghani HM, Santibanez-Koref M, Elliott DJ, Jackson MS. Erratum to: PTESFinder: A computational method to identify post-transcriptional exon shuffling (PTES) events [BMC Bioinf. 2016; 17: 31]. BMC Bioinformatics 2016, 17(1), 92.
• Reynard LN, Ratnayake M, Santibanez-Koref M, Loughlin J. Functional characterization of the osteoarthritis susceptibility mapping to CHST11 - a bioinformatics and molecular study. PLoS ONE 2016, 11(7), e0159024.
• Lindsay SJ, Xu YB, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF. HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development. Frontiers in Neuroanatomy 2016, 10, 86.
• Pazderska A, Fichna M, Mitchell AL, Napier CM, Gan E, Ruchala M, Santibanez-Koref M, Pearce SH. Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease. Journal of Clinical Endocrinology & Metabolism 2016, 101(11), 4214-4218.
• Izuogu OG, Alhasan AA, Alafghani HM, Santibanez-Koref M, Elliot DJ, Jackson MS. PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events. BMC Bioinformatics 2016, 17(31).
• Ryan SL, 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 AV, Kohlmann A, Irving JA, Harrison CJ. The role of the RAS pathway in iAMP21-ALL. Leukemia 2016, 30, 1824-1831.
• Redgrave RE, Tual-Chalot S, Davison BJ, Greally E, Santibanez-Koref M, Schneider JE, Blamire AM, Arthur HM. Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction. IJC Heart & Vasculature 2016, 11, 29-34.
• Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale D, Sayer JA. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’. Clinical Kidney Journal 2015, 8(1), 113-119.
• Goodship J, Miossec M, Brown D, Wilson I, Sutcliffe L, Topf A, Devriendt K, Rauch A, Winlaw D, Bu'Lock F, Bhattacharya S, Lathrop M, Keavney B, Santibanez-Koref M. Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot. In: American Society of Human Genetics Annual Meeting (ASHG). 2015, Baltimore.
• Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson EDO, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 2015, 125(4), 591-599.
• Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015, 138(2), 276-283.
• Pyle A, Hudson G, Wilson IJ, Coxhead J, Smertenko T, Herbert M, Santibanez-Koref M, Chinnery PF. Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans. PLoS Genetics 2015, 11(5), e1005040.
• Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. Journal of Neurology 2015, 262(8), 1822-1827.
• Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Respiratory chain deficiency in nonmitochondrial disease. Neurology Genetics 2015, 1(1), e6.
• Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA. Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. Genetics and Molecular Research 2015, 14(2), 3618-3624.
• Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014, 5, 4287.
• Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF. Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes. British Journal of Ophthalmology 2014, 98(5), 711-713.
• Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014, 16(12), 962-971.
• Martin RIR, Pogoryelova O, Koref MS, Bourke JP, Teare MD, Keavney BD. Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials. Heart 2014, 100(19), 1506-1510.
• Wong EKS, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship THJ, Kavanagh D. Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN. Journal of American Society of Nephrology 2014, 25(11), 2425-2433.
• Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA. PLoS Genetics 2014, 10(6), e1004424.
• Reynard LN, Ratnayake M, Santibanez-Koref M, Loughlin J. Functional analysis of the osteoarthritis susceptibility locus residing at the carbohydrate sulfotransferase 11 gene CHST11. In: 2014 World Congress on Osteoarthritis: Promoting Clinical and Basic Research in Osteoarthritis. 2014, Paris: Elsevier.
• Ratnayake M, Plöger F, Santibanez-Koref M, Loughlin J. Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF5. PLoS ONE 2014, 9(1), e86590.
• Bigley V, Dickinson R, Jardine L, Milne PPS, Griffin H, Santibanez-Koref M, Haniffa M, Cant A, Hambleton S, Gennery A, Collin M. Human SHP-1 Mutation Causes an Autoinflammatory and Immunodeficiency Phenotype. In: European Society for Immunodeficiencies. 2014, Prague, Czech Republic: Springer.
• Best A, James K, Dalgliesh C, Hong EA, Kheirolahi-Kouhestani M, Curk T, Xu Y, Danilenko M, Hussain R, Keavney B, Wipat A, Klinck R, Cowell IG, Cheong Lee K, Austin C, Venables JP, Chabot B, Santibanez Koref M, Tyson-Capper AJ, Elliott DJ. Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons. Nature Communications 2014, 5, 4760.
• Bada WU, Miossec MJ, Hussain R, Rahman T, Topf A, Hall D, Santibanez-Koref M, Keavney B, Goodship J. Investigating the cause of transposition of great arteries; exome sequencing analysis. In: ESC Congress 2014. 2014, Barcelona, Spain: Oxford University Press.
• Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
• Bonello N, Sampson J, Burn J, Wilson IJ, McGrown G, Margison GP, Thorncroft M, Crossbie P, Povey AC, Santibanez-Koref M, Walters K. Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours. Journal of Theoretical Biology 2013, 336, 87-95.
• Neeve VC, Pyle A, Boczonadi V, Gómez-Durán A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013, 13(6), 743-748.
• Łastowska M, Al-Afghani H, Al-Balool HH, Sheth H, Mercer E, Coxhead JM, Redfern CPF, Peters H, Burt AD, Santibanez-Koref M, Bacon CM, Chesler L, Rust AG, Adams DJ, Williamson D, Clifford SC, Jackson MS. Identification of a neuronal transcription factor network involved in medulloblastoma development. Acta Neuropathologica Communications 2013, 1, 35.
• Lee K, Santibanez-Koref M, Polvikoski T, Birchall D, Mendelow AD, Keavney B. Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture. Atherosclerosis 2013, 226(1), 74-81.
• Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai-Man P, Santibanez-Koref M, Horvath R, Chinnery PF. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. Journal of Neurogenetics 2013, 27(4), 176-182.
• Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation. Brain 2013, 136(2), e228.
• Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis. American Journal of Human Genetics 2013, 93(6), 1100-1107.
• Neeve VCM, Pyle A, Holinski-Feder E, Griffin H, Ashok D, Foley C, Hudson G, Rautensstrauss B, Lochmuller H, Santibanez-Koref M, Chinnery PF, Horvath R. A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Horvath R, Holinski Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bäßmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Movement Disorders 2012, 76(6), 789-793.
• Ratnayake M, Reynard LN, Raine EV, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Medical Genetics 2012, 13, 12.
• Ratnayake M, Reynard LN, Raine EV, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Ratnayake M, Reynard LN, Raine EVA, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Medical Genetics 2012, 13(1), 12.
• Ratnavake M, Ploger F, Santibanez-Koref M, Loughlin J. An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response?. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Hambleton S, McDonald DO, Morgan NV, Griffin H, Singh-Dang T, Grainger A, Reynard L, Gennery AR, Slatter M, Flood TJ, McKiernan P, Barge D, Abinun M, Hackett S, Loughlin J, Lakey J, Cant AJ, Santibanez-Koref M. Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Xu Y, Barter MJ, Swan DC, Rankin KS, Rowan AD, Santibanez-Koref M, Lo Ighlin J, Young DA. Comparison of osteoarthritis and normal hip cartilage transcriptomes using RNA-seq reveals new candidate gene targets and associated pathways. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. American Journal of Human Genetics 2012, 91(3), 489-501.
• Collin M, Dickinson RE, Haniffa MA, McGovern N, Griffin H, Reynard L, Lakey J, Hambleton S, Santibanez-Koref MA, Bigley V. Evolution of Dendritic Cell, Monocyte B and NK Lymphoid (DCML) deficiency; a human primary immunodeficiency arising from GATA-2 mutation. In: European Congress of Immunology. 2012, Glasgow, UK: Wiley-Blackwell Publishing Ltd.
• Bigley V, Dickinson R, Gennery A, Griffin H, Haniffa M, McGovern N, Milne P, Cant A, Santibanez-Koref M, Hambleton S, Collin M. Human dendritic cell deficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Xu Y, Barter MJ, Swan DC, Rankin KS, Rowan AD, Santibanez-Koref M, Loughlin J, Young DA. Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Xu Y, Barter MJ, Swan DC, Rankin KS, Rowan AD, Santibanez-Koref M, Loughlin J, Young DA. Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA. Osteoarthritis and Cartilage 2012, 20(9), 1029-1038.
• Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devreindt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue G, Winlaw D, Hurles M, Santibanez-Koref M, Cordell H, Goodship J, Keavney B. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics 2012, 21(7), 1513-1520.
• Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF. Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing. Archives of Neurology 2012, 69(10), 1351-1354.
• Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012, 135(6), 1695-1713.
• Hudson G, Wilson I, Payne BI, Elson J, Samuels DC, Santibanez-Korev M, Hall SJ, Chinnery PF. Unique mitochondrial DNA in highly inbred feral cattle. Mitochondrion 2012, 12(4), 438-440.
• Payne BAI, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Universal heteroplasmy of human mitochondrial DNA. Human Molecular Genetics 2012, 22(2), 384-390.
• Griffin H, McDonald DO, Singh-Dang T, Dickinson R, Grainger A, Reynard L, Hussain R, Cant AJ, Gennery AR, Abinun M, Flood TJ, Collin MP, Loughlin J, Morgan NV, Santibanez-Koref M, Hambleton S. Whole exome sequencing as a diagnostic tool in primary immunodeficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Siddle KJ, Goodship JA, Keavney B, Santibanez-Koref MF. Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome. Bioinformatics 2011, 27(7), 895-898.
• Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011, 118(10), 2656-2658.
• Wilson IJ, Howey RAJ, Houniet DT, Santibanez-Koref M. Finding genes that influence quantitative traits with tree-based clustering. BMC Proceedings 2011, 5(s9), S98.
• Dickinson RE, Bigley V, Griffin H, Lakey JH, McGovern N, Chua I, Wallis J, Hambleton S, Santibanez-Koref M, Collin M. Human dendritic cell deficiency is caused by GATA-2 mutation. In: Immunology: Annual Congress of the British Society for Immunology. 2011, Liverpool, UK: Wiley-Blackwell Publishing Ltd.
• Yung S, Ledran M, Moreno-Gimeno I, Conesa A, Montaner D, Dopazo J, Dimmick I, Slater NJ, Marenah L, Real PJ, Paraskevopoulou I, Bisbal V, Burks D, Santibanez-Koref M, Moreno R, Mountford J, Menendez P, Armstrong L, Lako M. Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells. Human Molecular Genetics 2011, 20(24), 4932-4946.
• Payne BAI, Wilson IJ, Hateley CA, Horvath R, Santibanez-Koref M, Samuels DC, Price DA, Chinnery PF. Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations. Nature Genetics 2011, 43(8), 806-U121.
• Al-Balool HH, Weber D, Liu Y, Wade M, Guleria K, Nam PL, Clayton J, Rowe W, Coxhead J, Irving J, Elliott DJ, Hall AG, Santibanez-Koref M, Jackson MS. Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant. Genome Research 2011, 21(11), 1788-1799.
• Ryan SL, Rand V, Schwab C, Morrison H, Matheson E, Minto L, Rahman T, Keavney B, Bown N, Skinner R, Schnittger S, Santibanez-Koref M, Grossmann V, Kohlmann A, Irving J, Harrison CJ. Ras Signalling Pathway and Novel Target Genes Related to Down Syndrome Contribute to the Development of B-Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL) in iAMP21 Patients. In: 53rd Annual Meeting and Exposition of the American Society of Hematology (ASH). 2011, San Diego, California, USA: American Society of Hematology.
• McDonald D, Morgan N, Griffin H, Dang TS, Grainger A, Reynard L, Loughlin J, Santibanez-Koref M, Hambleton S. Whole-exome deep sequencing identifies a novel causative mutation in primary immunodeficiency. In: Immunology: Annual Congress of the British Society for Immunology. 2011, Liverpool, UK: Wiley-Blackwell Publishing Ltd.
• Tubbs JL, Latypov V, Kanugula S, Butt A, Melikishvili M, Kraehenbuehl R, Fleck O, Marriott A, Watson AJ, Verbeek B, McGown G, Thorncroft M, Santibanez-Koref MF, Millington C, Arvai AS, Kroeger MD, Peterson LA, Williams DM, Fried MG, Margison GP, Pegg AE, Tainer JA. Flipping of alkylated DNA damage bridges base and nucleotide excision repair. Nature 2009, 459(7248), 808-813.
• Cunnington MS, Kay C, Avery PJ, Mayosi BM, Santibanez Koref MF, Keavney B. STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression. BMC Medical Genetics 2009, 10(1), 135.
• Crosbie PAJ, McGown G, Thorncroft MR, O'Donnell PNS, Barber PV, Lewis SJ, Harrison KL, Agius RM, Santibanez-Koref MF, Margison GP, Povey AC. Association between lung cancer risk and single nucleotide polymorphisms in the first intron and codon 178 of the DNA repair gene, O6- alkylguanine-DNA alkyltransferase. International Journal of Cancer 2008, 122(4), 791-795.
• Ledran MH, Krassowska A, Armstrong L, Dimmick I, Renstrom J, Lang R, Yung S, Santibanez-Coref M, Dzierzak E, Stojkovic M, Oostendorp RAJ, Forrester L, Lako M. Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches. Cell Stem Cell 2008, 3(1), 85-98.
• Lee K, Polvikoski T, Birchall D, Santibanez-Koref M, Mendelow AD, Keavney BD. Genome-wide cell-specific gene expression analysis identifies the involvement of the adipocytokine signalling pathway in atherosclerotic plaque rupture. Circulation 2007, 116(16), 363-364.
• Łastowska MA, Viprey V, Santibanez-Koref MF, Wappler I, Peters HH, Cullinane C, Roberts P, Hall AG, Tweddle DA, Pearson ADJ, Lewis I, Burchill S, Jackson MS. Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data. Oncogene 2007, 26(53), 7432-7444.
• Pearson SJ, Wharton S, Watson AJ, Begum G, Butt A, Glynn N, Williams DM, Shibata T, Santibanez-Koref MF, Margison GP. A novel DNA damage recognition protein in Schizosaccharomyces pombe. Nucleic Acids Research 2006, 34(8), 2347-2354.
• Teare MD, Heighway J, Santibanez Koref MF. An expectation-maximization algorithm for the analysis of allelic expression imbalance. American Journal of Human Genetics 2006, 79(3), 539-543.
• Jackson MS, Oliver K, Loveland J, Humphray S, Dunham I, Rocchi M, Viggiano L, Park JP, Hurles ME, Santibanez-Koref M. Evidence for widespread reticulate evolution within human duplicons. American Journal of Human Genetics 2005, 77(5), 824-840.
• Pearson SJ, Ferguson J, Santibanez-Koref M, Margison GP. Inhibition of O⁶-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli. Nucleic Acids Research 2005, 33(12), 3837-3844.
• Smith SL, Bowers NL, Betticher DC, Gautschi O, Ratschiller D, Hoban PR, Booton R, Santibaez-Koref MF, Heighway J. 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 instability. British Journal of Cancer 2005, 93(6), 719-729.
• Margison GP, Heighway J, Pearson S, McGown G, Thorncroft MR, Watson AJ, Harrison KL, Lewis SJ, Rohde K, Barber PV, O'Donnell P, Povey AC, Santibanez-Koref MF. Quantitative trait locus analysis reveals two intragenic sites that influence O6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells. Carcinogenesis 2005, 26(8), 1473-1480.
• Heighway J, Bowers NL, Smith S, Betticher DC, Santibanez Koref MF. The use of allelic expression differences to ascertain functional polymorphisms acting in cis: Analysis of MMP1 transcripts in normal lung tissue. Annals of Human Genetics 2005, 69(1), 127-133.
• Brinkmann D, Ryan A, Ayhan A, McCluggage WG, Feakins R, Santibanez Koref MF, Mein CA, Gayther SA, Jacobs IJ. A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers. Journal of the National Cancer Institute 2004, 96(19), 1441-1446.
• Santibanez-Koref MF, Gangeswaran R, Santibanez Koref IP, Shanahan N, Hancock JM. A phylogenetic approach for assessing the significance of missense mutations in disease genes. Human Mutation 2003, 22(1), 51-58.
• Seitz S, Wabetamuth P, Plaschke J, Schackert HK, Karsten U, Santibanez-Koref MF, Schlag PM, Scherneck S. Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines. Genes, Chromosomes & Cancer 2003, 37(1), 29-35.
• Heighway J, Margison GP, Santibanez-Koref MF. The alleles of the DNA repair gene O6-alkylguanine-DNA alkyltransferase are expressed at different levels in normal human lung tissue. Carcinogenesis 2003, 24(10), 1691-1694.
• Margison GP, Povey AC, Kaina B, Santibanez-Koref MF. Variability and regulation of O⁶-alkylguanine-DNA alkyltransferase. Carcinogenesis 2003, 24(4), 625-635.
• Margison GP, Santibanez Koref MF, Povey AC. Mechanisms of carcinogenicity/chemotherapy by O6-methylguanine. Mutagenesis 2002, 17(6), 483-487.
• Margison GP, Santibez Koref MF. O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy. Bioessays 2002, 24(3), 255-266.
• Santibanez-Koref MF, Gangeswaran R, Hancock JM. A relationship between lengths of microsatellites and nearby substitution rates in mammalian genomes. Molecular Biology and Evolution 2001, 18(11), 2119-2123.
• Hancock JM, Worthey EA, Santibez Koref MF. A Role for Selection in Regulating the Evolutionary Emergence of Disease Causing and Other Coding CAG Repeats in Humans and Mice. Molecular Biology and Evolution 2001, 18(6), 1014-1023.
• Menasce, L.P. Orphanos, V. Santibanez-Koref, M. Boyle, J.M. Harrison, C.J. A common region of deletion on the long arm of chromosome 6 in non-Hodgkins lymphoma and acute lymphoblastic leukaemia. Genes, Chromosomes and Cancer 1994, 10, 286-288.
• Menasce LP, Orphanos V, Santibanez-Koref MF, Boyle JM, Harrison CJ. Deletion of a common region on the long arm of chromosome 6 in acute lymphoblastic leukaemia. Genes, Chromosomes Cancer 1994, 10(1), 26-29.
• Birch, J. M., Hartley, A. L., Tricker, K. J., Prosser, J., Condie, A., Kelsey, A. M., Harris, M., Jones, P. H. M., Binchy, A., Crowther, D., Craft, A. W., Eden, O. B., Evans, D. G. R., Thompson, E., Mann, J. R., Martin, J., Mitchell, E. L. D., Santibanez Koref, M. F. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Research 1994, 54(5), 1298-1304.
• Santibanez-Koref, M. F., Birch, J. M., Hartley, A. L., Jones, P. H. M. , Craft, A. W., Eden, T., Crowther, D., Kelsey, A. M., Harris, M. p53 germline mutations in Li-Fraumeni syndrome. The Lancet 1991, 338(8781), 1490-1491.