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Browsing publications by Dr Mauro Santibanez Koref.

Newcastle AuthorsTitleYearFull text
Hannah Smith
Francesco Kumara Mastrorosa
Dr Giles Holt
Dr Brendan Houston
Dr Bilal Alobaidi
et al.
A de novo paradigm for male infertility2022
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 Assay2022
Dr Sarah Pickett
Dr Dasha Deen
Dr Angela Pyle
Dr Mauro Santibanez Koref
Dr Gavin Hudson
et al.
Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk2022
Peter Sowter
Dr Mauro Santibanez Koref
Dr Michael Jackson
Dr Gillian Borthwick
Dr 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 strategies2021
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 testing2021
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
Dr Gavin Hudson
Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment2020
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 12020
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 diagnostics2020
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 Disease2020
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 leukocytes2019
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 development2019
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 retina2019
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 caution2019
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 20162019
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 transmission2019
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 tumours2018
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 circular2018
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 populations2018
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 Fallot2018
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 Resource2017
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 reflux2017
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 Sequencing2017
Dr Florence Burte
Dr Dave Houghton
Hannah Lowes
Dr Angela Pyle
Sarah Nesbitt
et al.
Metabolic profiling of Parkinson's disease and mild cognitive impairment2017
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 brains2017
Rachel Challis
Dr Edwin Wong
Dr Vicky Brocklebank
Dr Valerie Wilson
Professor Kevin Marchbank
et al.
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease2017
Dr Jannetta Steyn
Professor David Elliott
Dr Mauro Santibanez Koref
Dr Michael Jackson
Circular RNA enrichment in platelets is a signature of transcriptome degradation2016
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 Deficiency2016
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 study2016
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 Development2016
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 Disease2016
Dr Ginikachukwu Izuogu
Dr Mauro Santibanez Koref
David Elliott
Dr Michael Jackson
PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events2016
Dr Sarra Ryan
Elizabeth Matheson
Dr Paul Sinclair
Dr Matthew Bashton
Claire Schwab
et al.
The role of the RAS pathway in iAMP21-ALL2016
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 infarction2016
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 Fallot2015
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 mutations2015
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Angela Pyle
Dr 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 Humans2015
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 ataxia2015
Dr Angela Pyle
Helen Nightingale
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Mauro Santibanez Koref
et al.
Respiratory chain deficiency in nonmitochondrial disease2015
Yaobo Xu
Dr Mauro Santibanez Koref
Professor John Sayer
Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly2015
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 hypoplasia2014
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 phenotypes2014
Dr Helen Griffin
Dr Angela Pyle
Dr Charlotte Alston
Dr Jennifer Duff
Dr Gavin Hudson
et al.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations2014
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 trials2014
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 GN2014
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 tRNA2014
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 CHST112014
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF52014
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 Phenotype2014
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 exons2014
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 analysis2014
Professor Dawn Teare
Dr Mauro Santibanez Koref
Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing2014
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 Deficiencies2014
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 tumours2013
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 MTFMT2013
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 development2013
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 rupture2013
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 Hybridization2013
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 mutation2013
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 Fibrosis2013
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
Dr Gavin Hudson
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy2012
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 neuropathy2012
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 MICAL32012
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 MICAL32012
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 MICAL32012
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-alkylguanines2012
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 II2012
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 pathways2012
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 Disease2012
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 mutation2012
Dr Venetia Bigley
Dr Rachel Dickinson
Professor Andrew Gennery
Dr Helen Griffin
Professor Muzlifah Haniffa
et al.
Human dendritic cell deficiency2012
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 OA2012
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 OA2012
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 controls2012
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 Sequencing2012
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 failure2012
Dr Gavin Hudson
Dr Ian Wilson
Dr Brendan Payne
Dr Joanna Elson
Professor David Samuels
et al.
Unique mitochondrial DNA in highly inbred feral cattle2012
Dr Brendan Payne
Dr Ian Wilson
Dr Patrick Yu Wai Man
Dr Jonathan Coxhead
Professor David Deehan
et al.
Universal heteroplasmy of human mitochondrial DNA2012
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 immunodeficiency2012
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 genome2011
Professor Dawn Teare
Dr Mauro Santibanez Koref
Comparing Methods for Mapping cis Acting Polymorphisms Using Allelic Expression Ratios2011
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 deficiency2011
Dr Ian Wilson
Darren Houniet
Dr Mauro Santibanez Koref
Finding genes that influence quantitative traits with tree-based clustering2011
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 mutation2011
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 cells2011
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 mutations2011
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 abundant2011
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 Patients2011
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 immunodeficiency2011
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 Expression2010
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 Controls2010
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 decay2009
Dr Mauro Santibanez Koref
Flipping of alkylated DNA damage bridges base and nucleotide excision repair2009
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 Risk2009
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 expression2009
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 alkyltransferase2008
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 niches2008
Dr Mauro Santibanez Koref
Alkyltransferase-like proteins2007
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 2A2007
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 rupture2007
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 data2007
Dr Mauro Santibanez Koref
Lung cancer risk and variation in MGMT activity and sequence2007
Dr Mauro Santibanez Koref
A novel DNA damage recognition protein in Schizosaccharomyces pombe2006
Professor Dawn Teare
Dr Mauro Santibanez Koref
An expectation-maximization algorithm for the analysis of allelic expression imbalance2006
Dr Mauro Santibanez Koref
Genetic variation at the human MGMT locus and its biological consequences2006
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 pathway2006
Dr Mauro Santibanez Koref
Smoking is associated with a decrease of O6-alkylguanine-DNA alkyltransferase activity in bronchial epithelial cells2006
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 cancer2005
Dr Michael Jackson
Kathryn Creighton
Dr Mauro Santibanez Koref
Evidence for widespread reticulate evolution within human duplicons2005
Dr Mauro Santibanez Koref
Inhibition of O6-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli2005
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 instability2005
Dr Mauro Santibanez Koref
Quantitative trait locus analysis reveals two intragenic sites that influence O6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells2005
Dr Mauro Santibanez Koref
The use of allelic expression differences to ascertain functional polymorphisms acting in cis: Analysis of MMP1 transcripts in normal lung tissue2005
Dr Mauro Santibanez Koref
A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers2004
Dr Mauro Santibanez Koref
Quantitative trait locus analysis reveals two intragenic sites that influence O-6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells2004
Dr Mauro Santibanez Koref
A phylogenetic approach for assessing the significance of missense mutations in disease genes2003
Dr Mauro Santibanez Koref
Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines2003
Dr Mauro Santibanez Koref
Quantitative trait locus analysis reveals two intragenic sites that influence O-6-alkylguanine-DNA alkyltransferase activity in peripheral blood mononuclear cells2003
Dr Mauro Santibanez Koref
The alleles of the DNA repair gene O6-alkylguanine-DNA alkyltransferase are expressed at different levels in normal human lung tissue2003
Dr Mauro Santibanez Koref
Variability and regulation of O6-alkylguanine-DNA alkyltransferase2003
Dr Mauro Santibanez Koref
Mechanisms of carcinogenicity/chemotherapy by O6-methylguanine2002
Dr Mauro Santibanez Koref
O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy2002
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 Mice2001
Dr Mauro Santibanez Koref
Professor Christine Harrison FRCPath FMedSci
Deletion of a common region on the long arm of chromosome 6 in acute lymphoblastic leukaemia1994
Emeritus Professor Alan Craft
Dr Mauro Santibanez Koref
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families1994
Dr Mauro Santibanez Koref
Emeritus Professor Alan Craft
p53 germline mutations in Li-Fraumeni syndrome1991