Publications by Dr Mauro Santibanez Koref - ePrints

Browsing publications by Dr Mauro Santibanez Koref.

Newcastle Authors	Title	Year
Dr Richard Gallon Rachel Phelps Christine Hayes Sarah Mills Dr Gillian Borthwick et al.	A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening	2024
Ben Whittle Dr Hannah Lowes Dr Dasha Deen Dr Angela Pyle Dr Jonathan Coxhead et al.	Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression	2024
Dr Richard Gallon Rachel Phelps Christine Hayes Annabel Kunzemann Martinez Dr Gillian Borthwick et al.	Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency	2023
Dr Richard Gallon Rachel Phelps Christine Hayes Dr Dino Masic Professor Julie Irving et al.	Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia	2023
Dr Yuko Takeda Dr Louise Hyslop Dr Meenakshi Choudhary Dr Fiona Robertson Dr Angela Pyle et al.	Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.	2023
Dr Richard Gallon Dr Mauro Santibanez Koref Dr Michael Jackson Dr Gillian Borthwick	Is HLA type a possible cancer risk modifier in Lynch syndrome?	2023
Dr Michael Jackson Dr Mauro Santibanez Koref	Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision	2023
Maria Rasmussen Peter Sowter Dr Richard Gallon Christine Hayes Dr Mauro Santibanez Koref et al.	Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors	2023
Hannah Smith Francesco Kumara Mastrorosa Dr Giles Holt Dr Brendan Houston Dr Bilal Alobaidi et al.	A de novo paradigm for male infertility	2022
Rachel Phelps Dr Richard Gallon Christine Hayes Dr Tom Lee Professor Rakesh Heer et al.	Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay	2022
Dr Sarah Pickett Dr Dasha Deen Dr Angela Pyle Dr Mauro Santibanez Koref Professor Gavin Hudson et al.	Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk	2022
Peter Sowter Dr Mauro Santibanez Koref Dr Michael Jackson Dr Gillian Borthwick Professor Neil Rajan et al.	Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome-associated tumours’	2022
Dr Richard Gallon Peter Sowter Rachel Phelps Christine Hayes Dr Gillian Borthwick et al.	How should we test for Lynch syndrome? A review of current guidelines and future strategies	2021
Dr Richard Gallon Dr Steven Cook Dr Mauro Santibanez Koref Dr Michael Jackson Professor Sir John Burn et al.	Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing	2021
Dr Richard Gallon Dr Mauro Santibanez Koref	A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.	2020
Dr Hannah Lowes Dr Angela Pyle Dr Mauro Santibanez Koref Professor Gavin Hudson	Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment	2020
Dr Richard Gallon Dr Michael Jackson Dr Mauro Santibanez Koref	Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1	2020
Dr Richard Gallon Dr Harsh Sheth Christine Hayes Lisa Redford Dr Ghanim Alhilal et al.	Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics	2020
Dr Hannah Lowes Dr Fiona Robertson Dr Angela Pyle Raf Hussain Dr Jonathan Coxhead et al.	The Human Coronavirus Receptor ANPEP (CD13) Is Overexpressed in Parkinson's Disease	2020
Dr Richard Gallon Dr Harsh Sheth Christine Hayes Dr Gillian Borthwick Professor Sir John Burn et al.	A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes	2019
Dr David Swan Dr Karin Engelhardt Dr Rui Chen Dr Rolando Berlinguer Palmini Dr Tarana Singh Dang et al.	An essential role for the Zn²⁺ transporter ZIP7 in B cell development	2019
Dr Carla Jackson Dr Roman Bauer Dr Joseph Collin Dr Birthe Hilgen Dr Darin Zerti et al.	An integrated transcriptional analysis of the developing human retina	2019
Dr Mauro Santibanez Koref Dr Helen Griffin Emeritus Professor Doug Turnbull Professor Patrick Chinnery Professor Mary Herbert et al.	Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution	2019
Dr Harsh Sheth Dr Mauro Santibanez Koref Professor Sir John Burn	Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016	2019
Dr Majid Arefi Dr Valerie Wilson Dr Siobhan Muthiah Dr Simon Zwolinski Dr Dalvir Bajwa et al.	Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission	2019
Lisa Redford Dr Ghanim Alhilal Dr Stephanie Needham Ottilia O'Brien Julie Coaker et al.	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	2018
Dr Osagie Izuogu Dr Carla Mellough Dr Joseph Collin Dr Richard Gallon Francesco Kumara Mastrorosa et al.	Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular	2018
Dr Rebecca Darlay Aisling Stewart Dr Yaobo Xu Dr Heather Lambert Dr Mauro Santibanez Koref et al.	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))	2018
Dr Harsh Sheth Dr Michael Jackson Dr Mauro Santibanez Koref Professor Sir John Burn	Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations	2018
Matthieu Miossec Professor Heather Cordell Dr Lou Sutcliffe Dr Ana Topf Dr John O'Sullivan et al.	Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot	2018
Dr Michael Keogh Dr Wei Wei Dr Ian Wilson Dr Jonathan Coxhead Dr Helen Griffin et al.	Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource	2017
Dr Rebecca Darlay Aisling Stewart Dr Yaobo Xu Dr Mauro Santibanez Koref Professor John Sayer et al.	Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux	2017
Dr Karin Engelhardt Dr Yaobo Xu Angela Grainger Dr David Swan Dr Joe Willet et al.	Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing	2017
Dr Florence Burte Dr Dave Houghton Hannah Lowes Dr Angela Pyle Sarah Nesbitt et al.	Metabolic profiling of Parkinson's disease and mild cognitive impairment	2017
Dr Michael Keogh Dr Ian Wilson Dr Jonathan Coxhead Dr Helen Griffin Dr Marzena Kurzawa-Akanbi et al.	Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains	2017
Rachel Challis Dr Edwin Wong Dr Vicky Brocklebank Dr Valerie Wilson Professor Kevin Marchbank et al.	Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease	2017
Dr Jannetta Steyn Professor David Elliott Dr Mauro Santibanez Koref Dr Michael Jackson	Circular RNA enrichment in platelets is a signature of transcriptome degradation	2016
Dr Tarana Singh Dang Dr Joe Willet Helen Griffin Dr Graeme O'Boyle Dr Mario Abinun et al.	Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency	2016
Dr Tarana Singh Dang Dr Joe Willet Helen Griffin Dr Graeme O'Boyle Dr Mario Abinun et al.	Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency (vol 36, pg 117, 2016)	2016
Dr Ginikachukwu Izuogu Dr Mauro Santibanez Koref Professor David Elliott Dr Michael Jackson	Erratum to: PTESFinder: A computational method to identify post-transcriptional exon shuffling (PTES) events [BMC Bioinf. 2016; 17: 31]	2016
Dr Louise Reynard Dr Madhushika Ratnayake Dr Mauro Santibanez Koref Professor John Loughlin	Functional characterization of the osteoarthritis susceptibility mapping to CHST11 - a bioinformatics and molecular study	2016
Emerita Professor Susan Lindsay Dr Yaobo Xu Dr Steven Lisgo Lauren Harkin Dr Gavin Clowry et al.	HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development	2016
Dr Agnieszka Pazderska Dr Anna Mitchell Dr Catherine Napier Dr Earn Gan Dr Mauro Santibanez Koref et al.	Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease	2016
Dr Ginikachukwu Izuogu Dr Mauro Santibanez Koref David Elliott Dr Michael Jackson	PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events	2016
Dr Sarra Ryan Elizabeth Matheson Dr Paul Sinclair Dr Matthew Bashton Claire Schwab et al.	The role of the RAS pathway in iAMP21-ALL	2016
Dr Rachael Redgrave Dr Simon Tual-Chalot Dr Benjamin Davison Liz Greally Dr Mauro Santibanez Koref et al.	Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction	2016
Dr Noel Edwards Dr Sarah Rice Dr Ann Marie Hynes Dr Shalabh Srivastava Dr Iain Moore et al.	A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’	2015
Professor Judith Goodship Matthieu Miossec Dr Danielle Brown Dr Ian Wilson Dr Lou Sutcliffe et al.	Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot	2015
Dr Karin Engelhardt Dr David Swan Dr Yaobo Xu Dr Mauro Santibanez Koref Professor Andrew Cant et al.	Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations	2015
Dr Angela Pyle Tania Smertenko Dr David Bargiela Dr Helen Griffin Dr Jennifer Duff et al.	Exome sequencing in undiagnosed inherited and sporadic ataxias	2015
Dr Angela Pyle Professor Gavin Hudson Dr Ian Wilson Dr Jonathan Coxhead Tania Smertenko et al.	Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans	2015
Dr Michael Keogh Dr Hannah Steele Dr Konstantinos Douroudis Dr Angela Pyle Dr Jennifer Duff et al.	Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia	2015
Dr Angela Pyle Helen Nightingale Dr Helen Griffin Dr Konstantinos Douroudis Dr Mauro Santibanez Koref et al.	Respiratory chain deficiency in nonmitochondrial disease	2015
Yaobo Xu Dr Mauro Santibanez Koref Professor John Sayer	Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly	2015
Dr Veronika Boczonadi Dr Juliane Mueller Dr Angela Pyle Dr Jennifer Munkley Michele Giunta et al.	EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia	2014
Dr Patrick Yu Wai Man Dr Angela Pyle Dr Helen Griffin Dr Mauro Santibanez Koref Professor Rita Horvath et al.	Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes	2014
Dr Helen Griffin Dr Angela Pyle Dr Charlotte Alston Dr Jennifer Duff Professor Gavin Hudson et al.	Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations	2014
Dr Ruairidh Martin Dr Oksana Pogoryelova Dr Mauro Santibanez Koref Dr John Bourke Professor Dawn Teare et al.	Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials	2014
Dr Edwin Wong Dr Holly Anderson Rachel Challis Dr Lisa Turnbull Gladys - et al.	Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN	2014
Dr John Yarham Dr Angela Pyle Dr Francesco Bruni Dr Langping He Dr Helen Griffin et al.	Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA	2014
Dr Louise Reynard Dr Madhushika Ratnayake Dr Mauro Santibanez Koref Professor John Loughlin	Functional analysis of the osteoarthritis susceptibility locus residing at the carbohydrate sulfotransferase 11 gene CHST11	2014
Dr Madhushika Ratnayake Dr Mauro Santibanez Koref Professor John Loughlin	Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF5	2014
Dr Venetia Bigley Dr Rachel Dickinson Dr Laura Jardine Dr Paul Milne Dr Helen Griffin et al.	Human SHP-1 Mutation Causes an Autoinflammatory and Immunodeficiency Phenotype	2014
Andy Best Caroline Dalgliesh Elaine Hong Mahsa Kheirollahi Kouhestani Dr Yaobo Xu et al.	Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons	2014
Matthieu Miossec Raf Hussain Dr Thahira Rahman Dr Ana Topf Dr Mauro Santibanez Koref et al.	Investigating the cause of transposition of great arteries; exome sequencing analysis	2014
Professor Dawn Teare Dr Mauro Santibanez Koref	Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing	2014
Professor Robert Taylor Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Dr Langping He et al.	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies	2014
Professor Sir John Burn Dr Ian Wilson Dr Mauro Santibanez Koref	Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours	2013
Vivienne Neeve Dr Angela Pyle Dr Veronika Boczonadi Dr Aurora Gomez Duran Dr Helen Griffin et al.	Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT	2013
Dr Maria Lastowska Hani Al-Afghani Haya AL-Balool Harsh SHETH Dr Jonathan Coxhead et al.	Identification of a neuronal transcription factor network involved in medulloblastoma development	2013
Dr Kelvin Lee Dr Mauro Santibanez Koref Dr Tuomo Polvikoski Dr Daniel Birchall Emeritus Professor David Mendelow et al.	Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture	2013
Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Shona Bennett Dr Simon Zwolinski et al.	Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization	2013
Dr Angela Pyle Dr Helen Griffin Dr Michael Keogh Dr Mauro Santibanez Koref Professor Patrick Chinnery et al.	Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation	2013
Darren Houniet Dr Thahira Rahman Dr Mauro Santibanez Koref Professor Bernard Keavney	Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis	2013
Vivienne Neeve Dr Angela Pyle Dr Helen Griffin Deepthi Ashok Professor Gavin Hudson et al.	A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy	2012
Professor Rita Horvath Vivienne Neeve Dr Angela Pyle Dr Helen Griffin Deepthi Ashok et al.	A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy	2012
Dr Madhushika Ratnayake Dr Louise Reynard Dr Emma Raine Dr Mauro Santibanez Koref Professor John Loughlin et al.	Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3	2012
Dr Madhushika Ratnayake Dr Louise Reynard Emma Raine Dr Mauro Santibanez Koref Professor John Loughlin et al.	Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3	2012
Dr Madhushika Ratnayake Dr Louise Reynard Dr Emma Raine Dr Mauro Santibanez Koref Professor John Loughlin et al.	Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3	2012
Dr Mauro Santibanez Koref Professor John Loughlin	An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response?	2012
Dr Mauro Santibanez Koref	Atl1 regulates choice between global genome and transcription-coupled repair of O⁶-alkylguanines	2012
Professor Sophie Hambleton Dr David McDonald Dr Helen Griffin Angela Grainger Dr Louise Reynard et al.	Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II	2012
Yaobo Xu Dr Matthew Barter Dr Daniel Swan Dr Kenneth Rankin Emeritus Professor Drew Rowan et al.	Comparison of osteoarthritis and normal hip cartilage transcriptomes using RNA-seq reveals new candidate gene targets and associated pathways	2012
Rachel Soemedi Dr Ian Wilson Dr Rebecca Darlay Dr Ana Topf Dr Simon Zwolinski et al.	Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease	2012
Professor Matthew Collin Dr Rachel Dickinson Professor Muzlifah Haniffa Dr Naomi McGovern Dr Helen Griffin et al.	Evolution of Dendritic Cell, Monocyte B and NK Lymphoid (DCML) deficiency; a human primary immunodeficiency arising from GATA-2 mutation	2012
Dr Venetia Bigley Dr Rachel Dickinson Professor Andrew Gennery Dr Helen Griffin Professor Muzlifah Haniffa et al.	Human dendritic cell deficiency	2012
Yaobo Xu Dr Matthew Barter Dr Daniel Swan Dr Kenneth Rankin Emeritus Professor Drew Rowan et al.	Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA	2012
Dr Matthew Barter Dr Daniel Swan Dr Kenneth Rankin Emeritus Professor Drew Rowan Dr Mauro Santibanez Koref et al.	Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA	2012
Rachel Soemedi Dr Ana Topf Dr Ian Wilson Dr Rebecca Darlay Dr Thahira Rahman et al.	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls	2012
Dr Angela Pyle Dr Helen Griffin Dr Patrick Yu Wai Man Dr Jennifer Duff Gail Eglon et al.	Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing	2012
Dr Gerald Pfeffer Dr Hannah Elliott Dr Helen Griffin Dr Rita Barresi Professor Volker Straub et al.	Titin mutation segregates with hereditary myopathy with early respiratory failure	2012
Professor Gavin Hudson Dr Ian Wilson Dr Brendan Payne Dr Joanna Elson Professor David Samuels et al.	Unique mitochondrial DNA in highly inbred feral cattle	2012
Dr Brendan Payne Dr Ian Wilson Dr Patrick Yu Wai Man Dr Jonathan Coxhead Professor David Deehan et al.	Universal heteroplasmy of human mitochondrial DNA	2012
Dr Helen Griffin Dr David McDonald Dr Rachel Dickinson Angela Grainger Dr Louise Reynard et al.	Whole exome sequencing as a diagnostic tool in primary immunodeficiency	2012
Professor Judith Goodship Professor Bernard Keavney Dr Mauro Santibanez Koref	Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome	2011
Professor Dawn Teare Dr Mauro Santibanez Koref	Comparing Methods for Mapping cis Acting Polymorphisms Using Allelic Expression Ratios	2011
Dr Rachel Dickinson Dr Helen Griffin Dr Venetia Bigley Dr Louise Reynard Raf Hussain et al.	Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency	2011
Dr Ian Wilson Darren Houniet Dr Mauro Santibanez Koref	Finding genes that influence quantitative traits with tree-based clustering	2011
Dr Rachel Dickinson Dr Venetia Bigley Dr Helen Griffin Professor Jeremy Lakey Dr Naomi McGovern et al.	Human dendritic cell deficiency is caused by GATA-2 mutation	2011
Sun Yung Dr Maria Ledran Ian Dimmick Dr Nicholas Slater Iliana Paraskevopoulou et al.	Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells	2011
Dr Brendan Payne Dr Ian Wilson Professor Rita Horvath Dr Mauro Santibanez Koref Dr David Samuels et al.	Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations	2011
Haya AL-Balool Dr Mark Wade Dr Jonathan Coxhead Professor Julie Irving Professor David Elliott et al.	Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant	2011
Dr Sarra Ryan Dr Vikki Rand Claire Schwab Heather Morrison Elizabeth Matheson et al.	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	2011
Dr David McDonald Dr Helen Griffin Angela Grainger Dr Louise Reynard Professor John Loughlin et al.	Whole-exome deep sequencing identifies a novel causative mutation in primary immunodeficiency	2011
Dr Michael Cunnington Dr Mauro Santibanez Koref Professor Sir John Burn Professor Bernard Keavney	Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression	2010
Dr Mauro Santibanez Koref Dr Valerie Wilson Dr Michael Cunnington Professor John Mathers Dr Ann Curtis et al.	MLH1 Differential Allelic Expression in Mutation Carriers and Controls	2010
Dr Helen Griffin Robert Brown Dr Mauro Santibanez Koref Professor Sir John Burn Dr Ann Curtis et al.	A screening assay for BRCA1 and BRCA2 mutations based on nonsense mediated decay	2009
Dr Mauro Santibanez Koref	Flipping of alkylated DNA damage bridges base and nucleotide excision repair	2009
Dr Michael Cunnington Dr Mauro Santibanez Koref Professor Sir John Burn Professor Bernard Keavney	Modulation of ANRIL Expression is a Possible Mechanism Mediating the Association Between Chromosome 9p21 Polymorphisms and Coronary Atherosclerosis Risk	2009
Dr Michael Cunnington Dr Peter Avery Dr Mauro Santibanez Koref Professor Bernard Keavney	STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression	2009
Dr Mauro Santibanez Koref	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	2008
Dr Maria Ledran Professor Lyle Armstrong Ian Dimmick Dr Rebecca Lang Sun Yung et al.	Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches	2008
Dr Mauro Santibanez Koref	Alkyltransferase-like proteins	2007
Dr Richard Charlton Dr Rita Barresi Dr Louise VB Anderson Dr Michelle Eagle Dr Mauro Santibanez Koref et al.	Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A	2007
Dr Kelvin Lee Dr Tuomo Polvikoski Dr Daniel Birchall Dr Mauro Santibanez Koref Emeritus Professor David Mendelow et al.	Genome-wide cell-specific gene expression analysis identifies the involvement of the adipocytokine signalling pathway in atherosclerotic plaque rupture	2007
Dr Maria Lastowska Dr Mauro Santibanez Koref Ilka Wappler Dr Heiko Peters Dr Andrew Hall et al.	Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data	2007
Dr Mauro Santibanez Koref	Lung cancer risk and variation in MGMT activity and sequence	2007
Dr Mauro Santibanez Koref	A novel DNA damage recognition protein in Schizosaccharomyces pombe	2006
Professor Dawn Teare Dr Mauro Santibanez Koref	An expectation-maximization algorithm for the analysis of allelic expression imbalance	2006
Dr Mauro Santibanez Koref	Genetic variation at the human MGMT locus and its biological consequences	2006
Dr Kelvin Lee Dr Tuomo Polvikoski Dr Daniel Birchall Dr Mauro Santibanez Koref Emeritus Professor David Mendelow et al.	Genome-wide cell-specific approach to atherosclerotic plaque rupture identifies the involvement of the adipocytokine signaling pathway	2006
Dr Mauro Santibanez Koref	Smoking is associated with a decrease of O6-alkylguanine-DNA alkyltransferase activity in bronchial epithelial cells	2006
Dr Valerie Wilson Dr Mauro Santibanez Koref Dr Lisa Turnbull James Eden Dr Ann Curtis et al.	Altered allele expression in hereditary nonpolyosis colon cancer (HNPCC) patients with nonsense mutations in the Mut L homologue (MLH1) gene.	2005
Dr Mauro Santibanez Koref	Codon 178 genetic polymorphism of the DNA repair protein O6-methylguanine-DNA methyltransferase and lung cancer	2005
Dr Michael Jackson Kathryn Creighton Dr Mauro Santibanez Koref	Evidence for widespread reticulate evolution within human duplicons	2005
Dr Mauro Santibanez Koref	Inhibition of O⁶-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli	2005
Dr Mauro Santibanez Koref	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	2005
Dr Mauro Santibanez Koref	Quantitative trait locus analysis reveals two intragenic sites that influence O6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells	2005
Dr Mauro Santibanez Koref	The use of allelic expression differences to ascertain functional polymorphisms acting in cis: Analysis of MMP1 transcripts in normal lung tissue	2005
Dr Mauro Santibanez Koref	A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers	2004
Dr Mauro Santibanez Koref	Quantitative trait locus analysis reveals two intragenic sites that influence O-6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells	2004
Dr Mauro Santibanez Koref	A phylogenetic approach for assessing the significance of missense mutations in disease genes	2003
Dr Mauro Santibanez Koref	Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines	2003
Dr Mauro Santibanez Koref	Quantitative trait locus analysis reveals two intragenic sites that influence O-6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells	2003
Dr Mauro Santibanez Koref	The alleles of the DNA repair gene O6-alkylguanine-DNA alkyltransferase are expressed at different levels in normal human lung tissue	2003
Dr Mauro Santibanez Koref	Variability and regulation of O⁶-alkylguanine-DNA alkyltransferase	2003
Dr Mauro Santibanez Koref	Mechanisms of carcinogenicity/chemotherapy by O6-methylguanine	2002
Dr Mauro Santibanez Koref	O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy	2002
Dr Mauro Santibanez Koref Dr John Hancock	A relationship between lengths of microsatellites and nearby substitution rates in mammalian genomes.	2001
Dr John Hancock Dr Mauro Santibanez Koref	A Role for Selection in Regulating the Evolutionary Emergence of Disease Causing and Other Coding CAG Repeats in Humans and Mice	2001
Dr Mauro Santibanez Koref Professor Christine Harrison FRCPath FMedSci	Deletion of a common region on the long arm of chromosome 6 in acute lymphoblastic leukaemia	1994
Emeritus Professor Alan Craft Dr Mauro Santibanez Koref	Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families	1994
Dr Mauro Santibanez Koref Emeritus Professor Alan Craft	p53 germline mutations in Li-Fraumeni syndrome	1991