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Browsing publications by Professor Heather Cordell.

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Dr Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy2024
Dr Rebecca Darlay
Professor Heather Cordell
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome2024
Dr Jess Leighton
Professor David Jones
Dr Jess Dyson
Professor Heather Cordell
Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis2024
Dr Richard Howey
Professor Heather Cordell
Comparison of regmed and BayesNetty for exploring causal models with many variables2023
Professor Heather Cordell
Dr Rebecca Darlay
Professor David Jones
Corrigendum to: “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs” [J Hepatol 75 (2021) 572-581, (S0168827821003342), (10.1016/j.jhep.2021.04.055)]2023
Dr Cahyo Wibowo
Professor Heather Cordell
Professor Angharad MR Gatehouse
Dr Martin Edwards
Genetic variants associated with leaf spot disease resistance in oil palm (Elaeis guineensis): A genome-wide association study2023
Professor Heather Cordell
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†2023
Professor Heather Cordell
Professor David Jones
Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells2023
Najib Naamane
Professor Heather Cordell
Dr Arthur Pratt
Professor Rachel Knevel
The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective2023
Dr Rebecca Darlay
Professor Heather Cordell
Professor Quentin Anstee
Professor Ann Daly
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation2022
Dr Wei-yu Lin
Dr Sarah Fordham
Dr Nicola Sunter
Dr Claire Elstob
Dr Yaobo Xu
et al.
Author Correction: Genome-wide association study identifies susceptibility loci for acute myeloid leukemia (Nature Communications, (2021), 12, 1, (6233), 10.1038/s41467-021-26551-x)2022
Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome2022
Professor Heather Cordell
Dr Richard Howey
Confirmation of the superior performance of the causal Graphical Analysis Using Genetics (cGAUGE) pipeline in comparison to various competing alternatives2022
Professor Heather Cordell
Dr Rebecca Darlay
Professor David Jones
Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]2022
Dr Rebecca Darlay
Professor Heather Cordell
Professor Ann Daly
Professor Chris Day
Dr Steven Masson
et al.
Corrigendum to: 'A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers' [J Hepatol 2022 (76) 275–282] (Journal of Hepatology (2022) 76(2) (275–282), (S0168827821021115), (10.1016/j.jhep.2021.10.005))2022
Professor Heather Cordell
Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits2022
Dr Olivier Govaere
Dr Rebecca Darlay
Dr Julien Peltier
Dr Jeremy Palmer
Dr Massimo Younes
et al.
Macrophage Scavenger Receptor 1 mediates lipid-induced inflammation in non-alcoholic fatty liver disease2022
Professor Heather Cordell
Dr Carmen Martin-Ruiz
Dr Louise Robinson
Emeritus Professor Thomas Kirkwood
Fotios Drenos
et al.
No Evidence That Genetic Variation at the Klotho Locus Is Associated With Longevity in Caucasians from the Newcastle 85+ Study and the UK Biobank2022
Nik Tzoumas
Professor David Kavanagh
Professor Heather Cordell
Professor David Steel
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank2022
Professor Heather Cordell
rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis2022
Dr Richard Howey
Alex Clark
Najib Naamane
Dr Louise Reynard
Dr Arthur Pratt
et al.
A Bayesian network approach incorporating imputation of missing data enables exploratory analysis of complex causal biological relationships2021
Dr Svetlana Cherlin
Professor Heather Cordell
A Genome-wide Association Study Identifies SERPINB10, CRLF3, STX7, LAMP3, IFNG-AS1, and KRT80 As Risk Loci Contributing to Cutaneous Leishmaniasis in Brazil2021
Nardeen Eldafashi
Dr Rebecca Darlay
Dr Ruchi Shukla
Misti McCain
Robyn Watson
et al.
A pdcd1 role in the genetic predisposition to nafld-hcc?2021
Professor Heather Cordell
James Fryett
Dr Rebecca Darlay
Professor David Jones
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs2021
Professor Heather Cordell
Association of Novel Locus with Rheumatic Heart Disease in Black African Individuals: Findings from the RHDGen Study2021
Professor Heather Cordell
Professor Bernard Keavney
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome (Scientific Reports, (2020), 10, 1, (18051), 10.1038/s41598-020-74650-4)2021
Professor Bernard Keavney
Professor Heather Cordell
Congenital heart disease risk loci identified by genome-wide association study in European patients2021
Dr Rebecca Darlay
Dr Steven Masson
Professor Chris Day
Professor Ann Daly
Professor Heather Cordell
et al.
Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors2021
Dr Wei-Yu Lin
Dr Sarah Fordham
Dr Nicola Sunter
Dr Claire Elstob
Dr Yaobo Xu
et al.
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia2021
Dr Steven Masson
Professor Ann Daly
Professor Heather Cordell
Professor Chris Day
Obesity, Diabetes, Coffee, Tea, and Cannabis Use Alter Risk for Alcohol-Related Cirrhosis in 2 Large Cohorts of High-Risk Drinkers2021
Professor Heather Cordell
Dr Kristin Ayers
Dr Joanna Collerton
Dr Karen Davies
Dr Rachel Duncan
et al.
Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes (Nature Communications, (2019), 10, 1, (3669), 10.1038/s41467-019-11558-2)2021
Professor Heather Cordell
Professor Bernard Keavney
Rationale and design of the African Cardiomyopathy and Myocarditis Registry Program: The IMHOTEP study2021
Professor Heather Cordell
Professor David Jones
Dr Harumasa Nakamura
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis2021
Dr Laura Lane
Professor Heather Cordell
Professor Simon Pearce
Professor Timothy Cheetham
Dr Anna Mitchell
et al.
An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts2020
Dr Richard Howey
Dr So-Youn Shin
Professor Caroline Relton
Professor Heather Cordell
Bayesian network analysis incorporating genetic anchors complements conventional Mendelian randomization approaches for exploratory analysis of causal relationships in complex data2020
James Fryett
Professor Heather Cordell
Correction: Comparison of methods for transcriptome imputation through application to two common complex diseases (European Journal of Human Genetics, (2018), 26, 11, (1658-1667), 10.1038/s41431-018-0176-5)2020
Professor John Sayer
Professor Heather Cordell
Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome2020
Professor Quentin Anstee
Dr Rebecca Darlay
Dr Simon Cockell
Dr Olivier Govaere
Dr Dina Tiniakos
et al.
Genome-Wide Association Study of Non-Alcoholic Fatty Liver and Steatohepatitis in a Histologically-Characterised Cohort2020
Professor Heather Cordell
Professor Bernard Keavney
Heritability of haemodynamics in the ascending aorta2020
Professor Heather Cordell
Professor Bernard Keavney
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome2020
Dr Svetlana Cherlin
Professor Heather Cordell
Investigation of genetically-regulated gene expression and response to treatment in rheumatoid arthritis highlights an association between IL18RAP expression and treatment response2020
James Fryett
Professor Heather Cordell
Investigation of prediction accuracy and the impact of sample size, ancestry and tissue in transcriptome wide association studies2020
Dr Simon Ramsbottom
Professor Peter Thelwall
Dr Katrina Wood
Dr Gavin Clowry
Laura Devlin
et al.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome2020
Professor Heather Cordell
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma2020
Dr Olivier Govaere
Dr Simon Cockell
Dr Dina Tiniakos
Dr Rachel Queen
Dr Massimo Younes
et al.
Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis2020
Dr Holly Fisher
Professor Heather Cordell
A case-control genome wide association study of substance use disorder (SUD) identifies novel variants on chromosome 7p14.1 in patients from the United Arab Emirates (UAE)2019
Rebecca Brennan
Dr Angela Pyle
Professor Heather Cordell
Professor Patrick Chinnery
Professor Gavin Hudson
et al.
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts2019
Professor Heather Cordell
Dr Joanna Collerton
Dr Karen Davies
Dr Rachel Duncan
Emerita Professor Carol Jagger
et al.
A meta-analysis of genome-wide association studies identifies multiple longevity genes2019
Professor Heather Cordell
Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease2019
Professor Heather Cordell
Haplin power analysis: A software module for power and sample size calculations in genetic association analyses of family triads and unrelated controls2019
Valentina Mamasoula
Professor Heather Cordell
Professor Bernard Keavney
Marked variation in heritability estimates of left ventricular mass depending on modality of measurement2019
Professor Heather Cordell
Statistical methods for genome-wide association studies2019
Professor Heather Cordell
The Plight of Muntaser Ibrahim2019
Dr Rebecca Darlay
Dr Kristin Ayers
Dr Lynsey Hall
Professor David Jones
Professor Heather Cordell
et al.
Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and Primary Biliary Cholangitis2018
Dr Laura Lane
Kathleen Allinson
Lorna Ingoe
Dr Salman Razvi
Professor Timothy Cheetham
et al.
Analysis of BAFF gene polymorphisms in UK Graves' disease patients2018
Dr Richard Howey
Professor Heather Cordell
Application of Bayesian networks to GAW20 genetic and blood lipid data2018
Professor Heather Cordell
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians2018
Dr Nishanthi Thalayasingam
Andrew Skelton
Dr Amy Anderson
Alex Clark
Julie Diboll
et al.
CD4+ and B lymphocyte expression quantitative traits at rheumatoid arthritis risk loci in untreated early arthritis: implications for causal gene identification2018
James Fryett
Professor Heather Cordell
Comparison of methods for transcriptome imputation through application to two common complex diseases2018
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 Steven Masson
Professor Ann Daly
Professor Heather Cordell
Professor Chris Day
Evaluation of laboratory tests for cirrhosis and for alcohol use, in the context of alcoholic cirrhosis2018
Dr Kristin Ayers
Professor Heather Cordell
Valentina Mamasoula
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits2018
Dr Sarah Pickett
Dr John Grady
Dr Yi Ng
Professor Grainne Gorman
Dr Andrew Schaefer
et al.
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors2018
Dr Svetlana Cherlin
Professor Heather Cordell
Prediction of treatment response in rheumatoid arthritis patients using genome‐wide SNP data2018
Emeritus Professor John Kirby
Dr Deborah Stocken
Professor Heather Cordell
Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score2018
Dr Svetlana Cherlin
Dr Richard Howey
Professor Heather Cordell
Using penalized regression to predict phenotype from SNP data2018
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 Holly Fisher
Dr So-Youn Shin
Professor Heather Cordell
A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements2017
Professor Heather Cordell
A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits2017
Dr Laura Lane
Kathleen Allinson
Professor Heather Cordell
Dr Anna Mitchell
Professor Simon Pearce
et al.
Association of a promoter BAFF polymorphism in Graves' disease2017
Dr Richard Howey
Professor Heather Cordell
Further investigations of the W-test for pairwise epistasis testing2017
Professor Bernard Keavney
Dr Kristin Ayers
Professor Heather Cordell
Dr Lenore Launer
Valentina Mamasoula
et al.
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk2017
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
Professor Heather Cordell
Valentina Mamasoula
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets from Blood and the Kidney2017
Professor Heather Cordell
Professor Bernard Keavney
Professor Judith Goodship
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve2017
Professor Quentin Anstee
Dr Yang-Lin Liu
Dr Rebecca Darlay
Professor Heather Cordell
Professor Ann Daly
et al.
Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans2017
Professor Judith Goodship
Professor Heather Cordell
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 202016
Dr Agnieszka Pazderska
Dr Catherine Napier
Dr Holly Fisher
Professor Heather Cordell
Professor Simon Pearce
et al.
A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans2016
Professor Heather Cordell
Compare and Contrast Meta Analysis (CCMA): A Method for Identification of Pleiotropic Loci in Genome-Wide Association Studies2016
Dr Michael Keogh
Dr Marzena Kurzawa-Akanbi
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Kristin Ayers
et al.
Exome sequencing in dementia with Lewy bodies2016
Professor Heather Cordell
Filaggrin mutations on the mother increase risk of atopic dermatitis in children independently of mutation inheritance2016
Professor Heather Cordell
Gene expression in large pedigrees: analytic approaches2016
Professor Heather Cordell
Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease2016
Dr Kristin Ayers
Professor Heather Cordell
Valentina Mamasoula
Professor Bernard Keavney
Genome-wide analysis identifies 12 loci influencing human reproductive behavior2016
Professor Heather Cordell
Emerita Professor Sandra Edwards
Heritability of udder morphology and colostrum quality traits in swine2016
Dr Arthur Pratt
Dr Amy Anderson
Julie Diboll
Andrew Skelton
Dr Dennis Lendrem
et al.
Identification of novel expression quantitative trait loci in CD4+ T cells of untreated early arthritis patients2016
Agnese Balzani
Professor Heather Cordell
Emerita Professor Sandra Edwards
Relationship of sow udder morphology with piglet suckling behaviour and teat access2016
Agnese Balzani
Professor Heather Cordell
Emerita Professor Sandra Edwards
Sources of variation in udder morphology of sows2016
Professor Heather Cordell
Professor David Jones
The UK-PBC Risk Scores: Derivation and Validation of a Scoring System for Long-Term Prediction of End-Stage Liver Disease in Primary Biliary Cholangitis2016
Dr Holly Fisher
Professor Heather Cordell
Using gene expression data to identify causal pathways between genotype and phenotype in a complex disease: Application to Genetic Analysis Workshop 192016
Professor Heather Cordell
A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits2015
Dr Holly Fisher
Dr So-Youn Shin
Professor Heather Cordell
A comparison of methods for inferring causal relationships between genotype and phenotype using multi-omics data2015
Professor Bernard Keavney
Professor Judith Goodship
Professor Heather Cordell
Association analysis identifies new risk loci for congenital heart disease in Chinese populations2015
Professor Chris Day
Dr Steven Masson
Professor Ann Daly
Professor Heather Cordell
Brief Report: Genetics of Alcoholic Cirrhosis-GenomALC Multinational Study2015
Dr Anna Mitchell
Professor Heather Cordell
Professor Simon Pearce
CTLA-4 as a genetic determinant in autoimmune Addison's disease2015
Professor Heather Cordell
Dr Elizabeth Davis
First Genome-Wide Association Study in an Australian Aboriginal Population Provides Insights into Genetic Risk Factors for Body Mass Index and Type 2 Diabetes2015
Professor Heather Cordell
Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms2015
Dr Laura Jopson
Professor Heather Cordell
Histological stage is relevant for risk-stratification in primary biliary cirrhosis2015
Professor Heather Cordell
Professor Mark Walker
Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene2015
Dr Rebecca Darlay
Dr Kristin Ayers
Professor David Jones
Dr Peter Donaldson
Professor Heather Cordell
et al.
Immunochip analysis identifies amino acid residues in five separate HLA genes driving the association between the MHC and primary biliary cirrhosis2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased power for detection of parent-of-origin effects via the use of haplotype estimation2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation2015
Professor Heather Cordell
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways2015
Dr Anna Mitchell
Katie MacArthur
Dr Jolanta Weaver
Dr Bijayeswar Vaidya
Dr Rebecca Darlay
et al.
Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus2015
Professor Heather Cordell
Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance2015
Dr Michael Rushton
Dr Louise Reynard
Professor David Young
Dr Colin Shepherd
Dr Rebecca Darlay
et al.
Methylation of cartilage DNA is a mediator of genetic risk at several OA susceptibility loci2015
Dr Michael Rushton
Dr Louise Reynard
Professor David Young
Dr Colin Shepherd
Dr Fiona Gee
et al.
Methylation quantitative trait locus (meQTL) analysis of osteoarthritis links epigenetics with genetic risk2015
Professor Heather Cordell
Dr Nat Eu-Ahsunthornwattana
Dr Richard Howey
Regional IBD Analysis (RIA): a new method for linkage analysis in extended pedigrees using genome-wide SNP data2015
Dr Laura Jopson
Professor Heather Cordell
The UK-PBC risk score: Derivation and validation of a risk score to predict liver events in the UK-PBC research cohort2015
Dr Laura Jopson
Professor Heather Cordell
Dacia Jones
The UK-PBC risk score: Derivation and validation of a risk score to predict liver events in the UK-PBC research cohort2015
Professor Judith Goodship
Professor Tim Goodship
Dr Heather Lambert
Professor Heather Cordell
Urinary Tract Effects of HPSE2 Mutations2015
Dr Brian Wilson
Professor Heather Cordell
Uterine carcinosarcoma/malignant mixed Mullerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy2015
Dr Anna Mitchell
Katie MacArthur
Dr Earn Gan
Professor Heather Cordell
Professor Simon Pearce
et al.
Association of Autoimmune Addison's Disease with Alleles of STAT4 and GATA3 in European Cohorts2014
Dr Nat Eu-Ahsunthornwattana
Professor Heather Cordell
Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data2014
Hannah Gautrey
Sanne van Otterdijk
Professor Heather Cordell
Professor John Mathers
Dr Gordon Strathdee
et al.
DNA methylation abnormalities at gene promoters are extensive and variable in the elderly and phenocopy cancer cells2014
Dr Richard Howey
Dr Rebecca Darlay
Professor Heather Cordell
Examination of previously identified associations within the Genetic Analysis Workshop 19 data2014
Professor Heather Cordell
Dr Valerie Wilson
Professor Judith Goodship
Professor Tim Goodship
Factors determining penetrance in familial atypical haemolytic uraemic syndrome2014
Professor Heather Cordell
Genetic insights into primary biliary cirrhosis - an international collaborative meta-analysis and replication study2014
Dr Kristin Ayers
Professor Heather Cordell
Dr Joanna Collerton
Dr Karen Davies
Dr Carmen Martin-Ruiz
et al.
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age2014
Professor Heather Cordell
Dr Sara Brown
Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Shared and Opposing Genetic Risk Mechanisms2014
Dr Sara Brown
Professor Heather Cordell
Genome-wide comparative analysis of atopic eczema and psoriasis gives insight into disease mechanisms2014
Dr Richard Howey
Professor Heather Cordell
Imputation Without Doing Imputation: A New Method for the Detection of Non-Genotyped Causal Variants2014
Dr Laura Jopson
Professor David Jones
Professor Heather Cordell
Risk stratification in primary biliary cirrhosis using the UK-PBC Research Cohort2014
Professor Heather Cordell
Summary of Results and Discussions From the Gene-Based Tests Group at Genetic Analysis Workshop 182014
Dr Sara Brown
Dr Stephen Turner
Professor Caroline Relton
Professor Sir John Burn
Dr Simon Meggitt
et al.
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects2013
Professor Quentin Anstee
Dr Rebecca Darlay
Julian Leathart
Yilei Liu
Professor Alastair Burt
et al.
A candidate-gene approach to validation of genetic modifier associations using a large cohort with histologically characterised non-alcoholic fatty liver disease2013
Professor Heather Cordell
A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family2013
Professor Nick Reynolds
Professor Heather Cordell
Dr Sara Brown
A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans2013
Valentina Mamasoula
Dr Tomasz Pierscionek
Dr Darroch Hall
Dr Ana Topf
Dr Danielle Brown
et al.
Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls2013
Professor Heather Cordell
Dr Peter Donaldson
Baseline Predictive Factors of Ursodeoxycholic Acid Response in Primary Biliary Cirrhosis2013
Professor Heather Cordell
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis2013
Dr Lucy Holmes
Dr Lisa Turnbull
Dr Iain Moore
Professor Kevin Marchbank
Professor David Kavanagh
et al.
Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q322013
Professor Heather Cordell
Dr Peter Donaldson
Factors Associated with Poor Outcome in Primary Biliary Cirrhosis2013
Professor Heather Cordell
Professor Mark Walker
Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene2013
Professor Heather Cordell
Professor Bernard Keavney
Genetic Information and the Prediction of Incident Type 2 Diabetes in a High-Risk Multiethnic Population: The EpiDREAM genetic study2013
Professor Heather Cordell
Dr Ana Topf
Valentina Mamasoula
Dr Rebecca Darlay
Rachel Soemedi
et al.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot2013
Professor Heather Cordell
Dr Ana Topf
Valentina Mamasoula
Rachel Soemedi
Dr Ruairidh Martin
et al.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p162013
Emeritus Professor Thomas Kirkwood
Professor Heather Cordell
Dr Kristin Ayers
Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study2013
Dr Kristin Ayers
Professor Heather Cordell
Identification of Grouped Rare and Common Variants via Penalized Logistic Regression2013
Professor Quentin Anstee
Dr Yang-Lin Liu
Professor Heather Cordell
Dr Rebecca Darlay
Professor Chris Day
et al.
Mapping Expression Quantitative Traits Loci (EQTL) for PNPLA3 Gene Identifies Additional SNPs Associated with Non-Alcoholic Fatty Liver Disease (NAFLD) Independent of rs7384092013
Professor Judith Goodship
Dr Darroch Hall
Dr Ana Topf
Valentina Mamasoula
Dr Helen Griffin
et al.
A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot2012
Professor Heather Cordell
Accounting for Relatedness in Genomewide Association Studies: An Empirical Methods Comparison2012
Valentina Mamasoula
Dr Tomasz Pierscionek
Dr Ana Topf
Dr Thahira Rahman
Dr John O'Sullivan
et al.
Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis2012
Dr Luca Ermini
Professor Tim Goodship
Dr Lisa Turnbull
Professor Heather Cordell
Dr Veronique Fremaux-Bacchi
et al.
Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.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 Disease2012
Professor Heather Cordell
Samantha Ducker
Dr Peter Donaldson
Professor David Jones
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis2012
Professor Heather Cordell
Samantha Ducker
Dr Peter Donaldson
Professor David Jones
Dense fine-mapping study identifies novel disease loci and implicates coding and non-coding variation in primary Mary cirrhosis risk2012
Dr Richard Howey
Professor Heather Cordell
EMIM: Estimation Of Maternal, Imprinting And Interaction Effects Using Multinomial Modelling2012
Bharti Srivastava
Professor Heather Cordell
Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis2012
Professor Heather Cordell
Fine mapping of the IL-2/IL-21 and IL2RA loci in primary sclerosing cholangitis2012
Professor Quentin Anstee
Dr Rebecca Darlay
Julian Leathart
Professor Helen Reeves
Professor Alastair Burt
et al.
Genome-Wide Association Analysis Confirms Importance of PNPLA3 and Identifies Novel Variants Associated With Histologically Progressive Steatohepatitis in NAFLD2012
Dr Kristin Ayers
Professor Heather Cordell
Identification of Grouped Rare and Common Variants via Penalized Logistic Regression2012
Dr Masao Ueki
Professor Heather Cordell
Improved Statistics for Genome-Wide Interaction Analysis2012
Professor Heather Cordell
Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect2012
Dr Richard Howey
Professor Heather Cordell
Multiple Regression Strategies for Detecting Disease Associations with Poorly Tagged Causal Variants2012
Professor David Jones
Professor Heather Cordell
Pathway analysis of the UK GWAS dataset implicates key immunoregulatory pathways in the pathogenesis of primary biliary cirrhosis2012
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 Richard Howey
Professor Heather Cordell
PREMIM and EMIM: tools for estimation of maternal, imprinting and interaction effects using multinomial modelling2012
Dr Shyamal Wahie
Professor Ann Daly
Professor Heather Cordell
Dr Andrew Carmichael
Dr Mary Carr
et al.
Clinical and Pharmacogenetic Influences on Response to Hydroxychloroquine in Discoid Lupus Erythematosus: A Retrospective Cohort Study2011
Professor Heather Cordell
Genetic and Functional Evidence Implicating DLL1 as the Gene That Influences Susceptibility to Visceral Leishmaniasis at Chromosome 6q272011
Dr Luca Ermini
Professor Tim Goodship
Dr Lisa Turnbull
Professor Heather Cordell
Dr Veronique Fremaux-Bacchi
et al.
Genetic variants in CFH and CD46 are the major susceptibility factors for aHUS-An association study of multiple complement genes2011
Professor Heather Cordell
Dr Peter Donaldson
Samantha Ducker
Professor David Jones
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis2011
Dr Holly Fisher
Professor Heather Cordell
Investigation of Maternal Effects, Maternal-Fetal Interactions and Parent-of-Origin Effects (Imprinting), Using Mothers and Their Offspring2011
Professor Heather Cordell
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy2011
Aisling Stewart
Professor Heather Cordell
Professor Judith Goodship
Professor Tim Goodship
Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank2011
Emeritus Professor Thomas Kirkwood
Professor Heather Cordell
Professor Tuck Finch
Speed-bumps ahead for the genetics of later-life diseases2011
Dr Sara Brown
Professor Heather Cordell
Louise Campbell
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations2011
Dr Kate Potter
Professor Heather Cordell
Professor Ann Daly
Professor Derek Mann
Professor John Isaacs
et al.
Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NFĸB signalling pathways2010
Professor Heather Cordell
Professor Tim Goodship
Associations of CFHR1-CFHR3 deletion and a CFH snp to age-related macular degeneration are not independent reply2010
Professor Heather Cordell
Chromosome 11q13.5 variant associated with childhood eczema: An effect supplementary to filaggrin mutations2010
Professor Heather Cordell
Dr Peter Donaldson
Professor David Jones
Genome-wide association study identifies more than 10 primary biliary cirrhosis risk loci2010
Professor Heather Cordell
Host genetic and epigenetic factors in toxoplasmosis2010
Dr Kristin Ayers
Professor Heather Cordell
Overlapping Haplotype Association Analysis via Penalized Logistic Regression2010
Professor Heather Cordell
Professor John Isaacs
Polymorphisms spanning the TNFR2 and TACE genes do not contribute towards variable anti-TNF treatment response2010
Louise Campbell
Professor Heather Cordell
Replication of eczema susceptibility loci identified from a genome-wide association study2010
Professor Heather Cordell
Professor Tim Goodship
Reply to “Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent”2010
Dr Kristin Ayers
Professor Heather Cordell
SNP Selection in genome-wide and candidate gene studies via penalized logistic regression2010
Dr Helen Griffin
Dr Ana Topf
Dr Elise Glen
Dr John O'Sullivan
Professor Sir John Burn
et al.
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants2010
Professor Heather Cordell
The heritability of G2 chromosomal radiosensitivity and its association with cancer in Danish cancer survivors and their offspring2010
Professor Heather Cordell
Samantha Ducker
Dr Peter Donaldson
Professor David Jones
Validation of the north american genome-wide association study of primary biliary cirrhosis and identification of additional genetic susceptibility loci in a British cohort2010
Professor Heather Cordell
Dr Rebecca Darlay
Dr Heather Lambert
Professor Tim Goodship
Dr Rajko Kenda
et al.
Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux2010
Professor Ann Daly
Dr Peter Donaldson
Dr Pallav Bhatnagar
Julia Patch
Professor Heather Cordell
et al.
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin2009
Dr Joanna Biernacka
Professor Heather Cordell
A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease2009
Dr Pascal Croiseau
Professor Heather Cordell
Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach2009
Professor Heather Cordell
Detecting gene-gene interactions that underlie human diseases2009
Professor Heather Cordell
Estimation and testing of gene-environment interactions in family-based association studies2009
Dr Sara Brown
Professor Caroline Relton
Professor Heather Cordell
Professor Nick Reynolds
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children2009
Professor Heather Cordell
Professor Bernard Keavney
Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study2009
Dr Helen Griffin
Dr Darroch Hall
Dr Ana Topf
James Eden
Professor Sir John Burn
et al.
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation2009
Professor Heather Cordell
Dr Holly Fisher
Investigation of maternal effects, maternal-foetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring2009
Dr Joanna Biernacka
Professor Heather Cordell
Machine learning in genome-wide association studies2009
Dr Joanna Biernacka
Professor Heather Cordell
Machine Learning in Genome-Wide Association Studies2009
Dr Sara Brown
Professor Heather Cordell
Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease2009
Dr Kristin Ayers
Professor Heather Cordell
Model Selection Via Penalized Logistic Regression2009
Dr Anna Mitchell
Professor Heather Cordell
Rachel Soemedi
Professor Simon Pearce
Programmed Death Ligand 1 (PD-L1) Gene Variants Contribute to Autoimmune Addison's Disease and Graves' Disease Susceptibility2009
Dr David McDonald
Professor Heather Cordell
Dr Peter Donaldson
Professor Simon Pearce
The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease2009
Professor Judith Goodship
Dr Rebecca Darlay
Dr Rajko Kenda
Professor Heather Cordell
Whole-genome linkage and association scan in primary, non-syndromic vesicoureteric reflux (VUR) and reflux nephropathy2009
Dr Sara Brown
Professor Heather Cordell
Are filaggrin mutations associated with hand eczema or contact allergy? - We do not know2008
Dr Sara Brown
Professor Caroline Relton
Professor Sir John Burn
Professor Heather Cordell
Professor Nick Reynolds
et al.
Filaggrin mutations in atopic eczema: genotype-phenotype correlation2008
Adillah Binti Yusof
Professor Caroline Relton
Dr Ian Wilson
Professor Sir John Burn
Professor Nick Reynolds
et al.
Filaggrin null mutations and childhood atopic eczema: A population-based case-control study2008
Dr Sara Brown
Professor Caroline Relton
Dr Ian Wilson
Professor Sir John Burn
Professor Nick Reynolds
et al.
Filaggrin null mutations in mild-moderate atopic eczema: a population-based case-control study2008
Professor Heather Cordell
Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis2008
Dr Sara Brown
Professor Caroline Relton
Dr Simon Meggitt
Professor Nick Reynolds
Professor Heather Cordell
et al.
Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema2008
Dr Joanna Biernacka
Professor Heather Cordell
A composite likelihood approach for inference on directly associated polymorphisms2007
Professor Heather Cordell
A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland2007
Dr Helen Imrie
Dr Rachael Fraser
Professor Heather Cordell
Professor Bernard Keavney
Association between aldosterone production and variation in the gene encoding 11-beta hydroxylase (CYP11B1)2007
Dr Pascal Croiseau
Professor Heather Cordell
Dealing with missing data in family-based association studies: A multiple imputation approach2007
Dr Pascal Croiseau
Professor Heather Cordell
Detection of the true disease susceptibility site in the presence of missing data2007
Dr Pascal Croiseau
Professor Heather Cordell
Efficiency of multiple imputation for the detection of the true disease susceptibility site in presence of missing data2007
Professor Heather Cordell
Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci2007
Dr Joanna Biernacka
Professor Heather Cordell
Exploring causality via identification of SNPs or haplotypes responsible for a linkage signal2007
Emeritus Professor Roger Francis
Professor Heather Cordell
Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection2007
Professor Heather Cordell
Pamela Chapman
Genomic DNA pooling for whole-genome association scans in complex disease: Empirical demonstration of efficacy in rheumatoid arthritis2007
Dr Alison Sutherland
Jocelyn Davies
Dr Kate Owen
Professor Timothy Cheetham
Dr Robert James
et al.
Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility2007
Professor Heather Cordell
Introduction to genetic analysis workshop 15 summaries2007
Dr Joanna Biernacka
Professor Heather Cordell
Joint linkage and association analysis for identification of potentially causal polymorphisms in GAW15 data2007
Professor Heather Cordell
Quantitative trait association in parent offspring trios: Extension of case/pseudocontrol method and comparison of prospective and retrospective approaches2007
Professor Heather Cordell
Testing and estimation of genotype and haplotype effects in family-based analysis of quantitative traits with missing genotype data2007
Professor Heather Cordell
Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan2007
Professor Heather Cordell
A multimarker regression-based test of linkage for affected sib-pairs at two linked loci2006
Dr Helen Imrie
Professor Heather Cordell
Dr Peter Avery
Professor Bernard Keavney
Association between aldosterone production and variation in the 11β-hydroxylase (CYP11B1) gene2006
Professor Heather Cordell
Estimation and Testing of Genotype and Haplotype Effects in Case-Control Studies: Comparison of Weighted Regression and Multiple Imputation Procedures2006
Professor Heather Cordell
Genome-wide scan for loci influencing quantitative immune response traits in the Belem Family Study: comparison of methods and summary of results2006
Professor Heather Cordell
Lost for Words: The Search for a Candidate Gene2006
Dr Joanna Biernacka
Professor Heather Cordell
Perils and pitfalls of permutation tests for distinguishing the effects of neighbouring polymorphisms2006
Professor Heather Cordell
Comparison of population and family-based methods for genetic association analysis in the presence of interacting loci2005
Professor Heather Cordell
Genetic Association Studies2005
Professor Heather Cordell
Bias toward the Null Hypothesis in Model-Free Linkage Analysis is Highly Dependent on the Test Statistic Used2004
Professor Heather Cordell
Case/Pseudocontrol Analysis in Genetic Association Studies: A Unified Framework for Detection of Genotype and Haplotype Associations, Gene-Gene and Gene-Environment Interactions, and Parent-of-Origin Effects2004
Professor Heather Cordell
Gamma regression improves Haseman-Elston and variance components linkage analysis for sib-pairs2004
Professor Heather Cordell
Properties of case/pseudocontrol analysis for genetic association studies: Effects of recombination, ascertainment, and multiple affected offspring2004
Professor Heather Cordell
Remapping the insulin gene/IDDM2 locus in type 1 diabetes2004
Professor Heather Cordell
Affected-sib-pair data can be used to distinguish two-locus heterogeneity from two-locus epistasis2003
Professor Heather Cordell
Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants2003
Professor Heather Cordell
Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease2003
Professor Heather Cordell
A Unified Stepwise Regression Procedure for Evaluating the Relative Effects of Polymorphisms within a Gene Using Case/Control or Family Data: Application to HLA in Type 1 Diabetes2002
Professor Heather Cordell
Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans2002
Dr Andrew Smith
Professor Heather Cordell
Haplotype tagging for the identification of common disease genes2001
Professor Heather Cordell
Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs2001
Professor Heather Cordell
Statistical modeling of interlocus interactions in a complex disease: rejection of the multiplicative model of epistasis in type 1 diabetes2001
Professor Heather Cordell
Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: the Conditional Extended Transmission/Disequilibrium Test2000
Professor Heather Cordell
Ascertainment bias in the estimation of sibling genetic risk parameters2000
Professor Heather Cordell
Bootstrap confidence intervals for relative risk parameters in affected-sib-pair data2000
Professor Heather Cordell
Correcting for Ascertainment Bias of Relative-Risk Estimates Obtained Using Affected-Sib-Pair Linkage Data2000
Professor Heather Cordell
Multilocus linkage tests based on affected relative pairs2000