Publications by Professor Heather Cordell - ePrints

Browsing publications by Professor Heather Cordell.

Newcastle Authors	Title	Year
Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor 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 myopathy	2024
Professor Heather Cordell	Epidemiologic and genetic associations between primary biliary cholangitis and extrahepatic rheumatic diseases	2024
Dr Aida Gjoka Professor Heather Cordell	Fine-Mapping the Results From Genome-Wide Association Studies of Primary Biliary Cholangitis Using Susie and h2-D2	2024
Dr Rebecca Darlay Professor Heather Cordell	Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome	2024
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 cholangitis	2024
Dr Rebecca Darlay Professor Bernard Keavney Professor Heather Cordell	Whole -genome survival analysis of 144 286 people from the UK Biobank identifies novel loci associated with blood pressure	2024
Dr Richard Howey Professor Heather Cordell	Comparison of regmed and BayesNetty for exploring causal models with many variables	2023
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 study	2023
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 cells	2023
Najib Naamane Professor Heather Cordell Dr Arthur Pratt Professor Rachel Knevel	The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective	2023
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 validation	2022
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 syndrome	2022
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 alternatives	2022
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 traits	2022
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 disease	2022
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 Biobank	2022
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 Biobank	2022
Professor Heather Cordell	rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis	2022
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 relationships	2021
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 Brazil	2021
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 drugs	2021
Professor Heather Cordell	Association of Novel Locus with Rheumatic Heart Disease in Black African Individuals: Findings from the RHDGen Study	2021
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 patients	2021
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 factors	2021
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 leukemia	2021
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 Drinkers	2021
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 study	2021
Professor Heather Cordell Professor David Jones Dr Harumasa Nakamura	X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis	2021
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 Cohorts	2020
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 data	2020
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 Syndrome	2020
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 Cohort	2020
Professor Heather Cordell Professor Bernard Keavney	Heritability of haemodynamics in the ascending aorta	2020
Professor Heather Cordell Professor Bernard Keavney	Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome	2020
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 response	2020
James Fryett Professor Heather Cordell	Investigation of prediction accuracy and the impact of sample size, ancestry and tissue in transcriptome wide association studies	2020
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 syndrome	2020
Professor Heather Cordell	Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma	2020
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 fibrosis	2020
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 cohorts	2019
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 genes	2019
Professor Heather Cordell	Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease	2019
Professor Heather Cordell	Haplin power analysis: A software module for power and sample size calculations in genetic association analyses of family triads and unrelated controls	2019
Valentina Mamasoula Professor Heather Cordell Professor Bernard Keavney	Marked variation in heritability estimates of left ventricular mass depending on modality of measurement	2019
Professor Heather Cordell	Statistical methods for genome-wide association studies	2019
Professor Heather Cordell	The Plight of Muntaser Ibrahim	2019
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 Cholangitis	2018
Dr Laura Lane Kathleen Allinson Lorna Ingoe Dr Salman Razvi Professor Timothy Cheetham et al.	Analysis of BAFF gene polymorphisms in UK Graves' disease patients	2018
Dr Richard Howey Professor Heather Cordell	Application of Bayesian networks to GAW20 genetic and blood lipid data	2018
Professor Heather Cordell	Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians	2018
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 identification	2018
James Fryett Professor Heather Cordell	Comparison of methods for transcriptome imputation through application to two common complex diseases	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 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 cirrhosis	2018
Dr Kristin Ayers Professor Heather Cordell Valentina Mamasoula	Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits	2018
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 factors	2018
Dr Svetlana Cherlin Professor Heather Cordell	Prediction of treatment response in rheumatoid arthritis patients using genome‐wide SNP data	2018
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 Score	2018
Dr Svetlana Cherlin Dr Richard Howey Professor Heather Cordell	Using penalized regression to predict phenotype from SNP data	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 Holly Fisher Dr So-Youn Shin Professor Heather Cordell	A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements	2017
Professor Heather Cordell	A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits	2017
Dr Laura Lane Kathleen Allinson Professor Heather Cordell Dr Anna Mitchell Professor Simon Pearce et al.	Association of a promoter BAFF polymorphism in Graves' disease	2017
Dr Richard Howey Professor Heather Cordell	Further investigations of the W-test for pairwise epistasis testing	2017
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 risk	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
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 Kidney	2017
Professor Heather Cordell Professor Bernard Keavney Professor Judith Goodship	Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve	2017
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 humans	2017
Professor Judith Goodship Professor Heather Cordell	A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20	2016
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 Humans	2016
Professor Heather Cordell	Compare and Contrast Meta Analysis (CCMA): A Method for Identification of Pleiotropic Loci in Genome-Wide Association Studies	2016
Dr Michael Keogh Dr Marzena Kurzawa-Akanbi Dr Helen Griffin Dr Konstantinos Douroudis Dr Kristin Ayers et al.	Exome sequencing in dementia with Lewy bodies	2016
Professor Heather Cordell	Filaggrin mutations on the mother increase risk of atopic dermatitis in children independently of mutation inheritance	2016
Professor Heather Cordell	Gene expression in large pedigrees: analytic approaches	2016
Professor Heather Cordell	Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease	2016
Dr Kristin Ayers Professor Heather Cordell Valentina Mamasoula Professor Bernard Keavney	Genome-wide analysis identifies 12 loci influencing human reproductive behavior	2016
Professor Heather Cordell Emerita Professor Sandra Edwards	Heritability of udder morphology and colostrum quality traits in swine	2016
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 patients	2016
Agnese Balzani Professor Heather Cordell Emerita Professor Sandra Edwards	Relationship of sow udder morphology with piglet suckling behaviour and teat access	2016
Agnese Balzani Professor Heather Cordell Emerita Professor Sandra Edwards	Sources of variation in udder morphology of sows	2016
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 Cholangitis	2016
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 19	2016
Professor Heather Cordell	A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits	2015
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 data	2015
Professor Bernard Keavney Professor Judith Goodship Professor Heather Cordell	Association analysis identifies new risk loci for congenital heart disease in Chinese populations	2015
Professor Chris Day Dr Steven Masson Professor Ann Daly Professor Heather Cordell	Brief Report: Genetics of Alcoholic Cirrhosis-GenomALC Multinational Study	2015
Dr Anna Mitchell Professor Heather Cordell Professor Simon Pearce	CTLA-4 as a genetic determinant in autoimmune Addison's disease	2015
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 Diabetes	2015
Professor Heather Cordell	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms	2015
Dr Laura Jopson Professor Heather Cordell	Histological stage is relevant for risk-stratification in primary biliary cirrhosis	2015
Professor Heather Cordell Professor Mark Walker	Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene	2015
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 cirrhosis	2015
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 estimation	2015
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 Estimation	2015
Professor Heather Cordell	International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways	2015
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 Locus	2015
Professor Heather Cordell	Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance	2015
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 loci	2015
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 risk	2015
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 data	2015
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 cohort	2015
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 cohort	2015
Professor Judith Goodship Professor Tim Goodship Dr Heather Lambert Professor Heather Cordell	Urinary Tract Effects of HPSE2 Mutations	2015
Dr Brian Wilson Professor Heather Cordell	Uterine carcinosarcoma/malignant mixed Mullerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy	2015
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 Cohorts	2014
Dr Nat Eu-Ahsunthornwattana Professor Heather Cordell	Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data	2014
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 cells	2014
Dr Richard Howey Dr Rebecca Darlay Professor Heather Cordell	Examination of previously identified associations within the Genetic Analysis Workshop 19 data	2014
Professor Heather Cordell Dr Valerie Wilson Professor Judith Goodship Professor Tim Goodship	Factors determining penetrance in familial atypical haemolytic uraemic syndrome	2014
Professor Heather Cordell	Genetic insights into primary biliary cirrhosis - an international collaborative meta-analysis and replication study	2014
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 age	2014
Professor Heather Cordell Dr Sara Brown	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Shared and Opposing Genetic Risk Mechanisms	2014
Dr Sara Brown Professor Heather Cordell	Genome-wide comparative analysis of atopic eczema and psoriasis gives insight into disease mechanisms	2014
Dr Richard Howey Professor Heather Cordell	Imputation Without Doing Imputation: A New Method for the Detection of Non-Genotyped Causal Variants	2014
Dr Laura Jopson Professor David Jones Professor Heather Cordell	Risk stratification in primary biliary cirrhosis using the UK-PBC Research Cohort	2014
Professor Heather Cordell	Summary of Results and Discussions From the Gene-Based Tests Group at Genetic Analysis Workshop 18	2014
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 subjects	2013
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 disease	2013
Professor Heather Cordell	A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family	2013
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 humans	2013
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 Controls	2013
Professor Heather Cordell Dr Peter Donaldson	Baseline Predictive Factors of Ursodeoxycholic Acid Response in Primary Biliary Cirrhosis	2013
Professor Heather Cordell	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis	2013
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 1q32	2013
Professor Heather Cordell Dr Peter Donaldson	Factors Associated with Poor Outcome in Primary Biliary Cirrhosis	2013
Professor Heather Cordell Professor Mark Walker	Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene	2013
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 study	2013
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 Fallot	2013
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 4p16	2013
Emeritus Professor Thomas Kirkwood Professor Heather Cordell Dr Kristin Ayers	Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study	2013
Dr Kristin Ayers Professor Heather Cordell	Identification of Grouped Rare and Common Variants via Penalized Logistic Regression	2013
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 rs738409	2013
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 Fallot	2012
Professor Heather Cordell	Accounting for Relatedness in Genomewide Association Studies: An Empirical Methods Comparison	2012
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-Analysis	2012
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 Disease	2012
Professor Heather Cordell Samantha Ducker Dr Peter Donaldson Professor David Jones	Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis	2012
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 risk	2012
Dr Richard Howey Professor Heather Cordell	EMIM: Estimation Of Maternal, Imprinting And Interaction Effects Using Multinomial Modelling	2012
Bharti Srivastava Professor Heather Cordell	Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis	2012
Professor Heather Cordell	Fine mapping of the IL-2/IL-21 and IL2RA loci in primary sclerosing cholangitis	2012
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 NAFLD	2012
Dr Kristin Ayers Professor Heather Cordell	Identification of Grouped Rare and Common Variants via Penalized Logistic Regression	2012
Dr Masao Ueki Professor Heather Cordell	Improved Statistics for Genome-Wide Interaction Analysis	2012
Professor Heather Cordell	Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect	2012
Dr Richard Howey Professor Heather Cordell	Multiple Regression Strategies for Detecting Disease Associations with Poorly Tagged Causal Variants	2012
Professor David Jones Professor Heather Cordell	Pathway analysis of the UK GWAS dataset implicates key immunoregulatory pathways in the pathogenesis of primary biliary cirrhosis	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 Richard Howey Professor Heather Cordell	PREMIM and EMIM: tools for estimation of maternal, imprinting and interaction effects using multinomial modelling	2012
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 Study	2011
Professor Heather Cordell	Genetic and Functional Evidence Implicating DLL1 as the Gene That Influences Susceptibility to Visceral Leishmaniasis at Chromosome 6q27	2011
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 genes	2011
Professor Heather Cordell Dr Peter Donaldson Samantha Ducker Professor David Jones	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis	2011
Dr Holly Fisher Professor Heather Cordell	Investigation of Maternal Effects, Maternal-Fetal Interactions and Parent-of-Origin Effects (Imprinting), Using Mothers and Their Offspring	2011
Professor Heather Cordell	Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy	2011
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 Bank	2011
Emeritus Professor Thomas Kirkwood Professor Heather Cordell Professor Tuck Finch	Speed-bumps ahead for the genetics of later-life diseases	2011
Dr Sara Brown Professor Heather Cordell Louise Campbell	Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations	2011
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 pathways	2010
Professor Heather Cordell Professor Tim Goodship	Associations of CFHR1-CFHR3 deletion and a CFH snp to age-related macular degeneration are not independent reply	2010
Professor Heather Cordell	Chromosome 11q13.5 variant associated with childhood eczema: An effect supplementary to filaggrin mutations	2010
Professor Heather Cordell Dr Peter Donaldson Professor David Jones	Genome-wide association study identifies more than 10 primary biliary cirrhosis risk loci	2010
Professor Heather Cordell	Host genetic and epigenetic factors in toxoplasmosis	2010
Dr Kristin Ayers Professor Heather Cordell	Overlapping Haplotype Association Analysis via Penalized Logistic Regression	2010
Professor Heather Cordell Professor John Isaacs	Polymorphisms spanning the TNFR2 and TACE genes do not contribute towards variable anti-TNF treatment response	2010
Louise Campbell Professor Heather Cordell	Replication of eczema susceptibility loci identified from a genome-wide association study	2010
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 regression	2010
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 variants	2010
Professor Heather Cordell	The heritability of G2 chromosomal radiosensitivity and its association with cancer in Danish cancer survivors and their offspring	2010
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 cohort	2010
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 Reflux	2010
Professor Ann Daly Dr Peter Donaldson Dr Pallav Bhatnagar Julia Patch Professor Heather Cordell et al.	HLA-B5701* genotype is a major determinant of drug-induced liver injury due to flucloxacillin	2009
Dr Joanna Biernacka Professor Heather Cordell	A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease	2009
Dr Pascal Croiseau Professor Heather Cordell	Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach	2009
Professor Heather Cordell	Detecting gene-gene interactions that underlie human diseases	2009
Professor Heather Cordell	Estimation and testing of gene-environment interactions in family-based association studies	2009
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 children	2009
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 Study	2009
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 malformation	2009
Professor Heather Cordell Dr Holly Fisher	Investigation of maternal effects, maternal-foetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring	2009
Dr Joanna Biernacka Professor Heather Cordell	Machine learning in genome-wide association studies	2009
Dr Joanna Biernacka Professor Heather Cordell	Machine Learning in Genome-Wide Association Studies	2009
Dr Sara Brown Professor Heather Cordell	Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease	2009
Dr Kristin Ayers Professor Heather Cordell	Model Selection Via Penalized Logistic Regression	2009
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 Susceptibility	2009
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 disease	2009
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 nephropathy	2009
Dr Sara Brown Professor Heather Cordell	Are filaggrin mutations associated with hand eczema or contact allergy? - We do not know	2008
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 correlation	2008
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 study	2008
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 study	2008
Professor Heather Cordell	Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis	2008
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 eczema	2008
Dr Joanna Biernacka Professor Heather Cordell	A composite likelihood approach for inference on directly associated polymorphisms	2007
Professor Heather Cordell	A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland	2007
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 approach	2007
Dr Pascal Croiseau Professor Heather Cordell	Detection of the true disease susceptibility site in the presence of missing data	2007
Dr Pascal Croiseau Professor Heather Cordell	Efficiency of multiple imputation for the detection of the true disease susceptibility site in presence of missing data	2007
Professor Heather Cordell	Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci	2007
Dr Joanna Biernacka Professor Heather Cordell	Exploring causality via identification of SNPs or haplotypes responsible for a linkage signal	2007
Emeritus Professor Roger Francis Professor Heather Cordell	Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection	2007
Professor Heather Cordell Pamela Chapman	Genomic DNA pooling for whole-genome association scans in complex disease: Empirical demonstration of efficacy in rheumatoid arthritis	2007
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 susceptibility	2007
Professor Heather Cordell	Introduction to genetic analysis workshop 15 summaries	2007
Dr Joanna Biernacka Professor Heather Cordell	Joint linkage and association analysis for identification of potentially causal polymorphisms in GAW15 data	2007
Professor Heather Cordell	Quantitative trait association in parent offspring trios: Extension of case/pseudocontrol method and comparison of prospective and retrospective approaches	2007
Professor Heather Cordell	Testing and estimation of genotype and haplotype effects in family-based analysis of quantitative traits with missing genotype data	2007
Professor Heather Cordell	Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan	2007
Professor Heather Cordell	A multimarker regression-based test of linkage for affected sib-pairs at two linked loci	2006
Dr Helen Imrie Professor Heather Cordell Dr Peter Avery Professor Bernard Keavney	Association between aldosterone production and variation in the 11β-hydroxylase (CYP11B1) gene	2006
Professor Heather Cordell	Estimation and Testing of Genotype and Haplotype Effects in Case-Control Studies: Comparison of Weighted Regression and Multiple Imputation Procedures	2006
Professor Heather Cordell	Genome-wide scan for loci influencing quantitative immune response traits in the Belem Family Study: comparison of methods and summary of results	2006
Professor Heather Cordell	Lost for Words: The Search for a Candidate Gene	2006
Dr Joanna Biernacka Professor Heather Cordell	Perils and pitfalls of permutation tests for distinguishing the effects of neighbouring polymorphisms	2006
Professor Heather Cordell	Comparison of population and family-based methods for genetic association analysis in the presence of interacting loci	2005
Professor Heather Cordell	Genetic Association Studies	2005
Professor Heather Cordell	Bias toward the Null Hypothesis in Model-Free Linkage Analysis is Highly Dependent on the Test Statistic Used	2004
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 Effects	2004
Professor Heather Cordell	Gamma regression improves Haseman-Elston and variance components linkage analysis for sib-pairs	2004
Professor Heather Cordell	Properties of case/pseudocontrol analysis for genetic association studies: Effects of recombination, ascertainment, and multiple affected offspring	2004
Professor Heather Cordell	Remapping the insulin gene/IDDM2 locus in type 1 diabetes	2004
Professor Heather Cordell	Affected-sib-pair data can be used to distinguish two-locus heterogeneity from two-locus epistasis	2003
Professor Heather Cordell	Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants	2003
Professor Heather Cordell	Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease	2003
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 Diabetes	2002
Professor Heather Cordell	Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans	2002
Dr Andrew Smith Professor Heather Cordell	Haplotype tagging for the identification of common disease genes	2001
Professor Heather Cordell	Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs	2001
Professor Heather Cordell	Statistical modeling of interlocus interactions in a complex disease: rejection of the multiplicative model of epistasis in type 1 diabetes	2001
Professor Heather Cordell	Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: the Conditional Extended Transmission/Disequilibrium Test	2000
Professor Heather Cordell	Ascertainment bias in the estimation of sibling genetic risk parameters	2000
Professor Heather Cordell	Bootstrap confidence intervals for relative risk parameters in affected-sib-pair data	2000
Professor Heather Cordell	Correcting for Ascertainment Bias of Relative-Risk Estimates Obtained Using Affected-Sib-Pair Linkage Data	2000
Professor Heather Cordell	Multilocus linkage tests based on affected relative pairs	2000