Staff Profile

Heather Cordell is Professor of Statistical Genetics, and the holder of a Wellcome Investigator Award in Science, in the Population Health Sciences Institute

The research interests of her group are the development and application of statistical methodology to genetic studies of complex disease.

Area of expertise

• Statistical analysis of genetic and genomic data, particularly data from genetic studies of human complex disease

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Research Interests

Development and application of statistical methodology to genetic studies of complex disease.

In my group we develop statistical methodology to detect and characterise genetic variants contributing to common, complex diseases such as type 1 diabetes, asthma, tuberculosis, leprosy, renal and cardiovascular diseases. This research spans the realm of both linkage and association analysis, using both family (pedigree) data and data from unrelated cases and controls. Following localisation of genetic regions that contain susceptibility loci via linkage methods, for many diseases the focus of interest is now identification of causal genetic variants within those regions. We use a variety of statistical methods including regression and data-mining approaches to address this question. A particular feature of our research is on the development of methods for detecting linkage or association with, and modelling the effects at, multiple disease loci simultaneously. This includes loci that may be closely linked (i.e. that map to the same chromosomal region) and that may interact epistatically with one another.

The methods developed in our group are applied to, and in part inspired by, the data and questions of interest arising from our collaborations with clinical and biological research colleagues.

Co-workers

Rebecca Darlay BSc PhD
Research Associate

Richard Howey BSc MSc PhD
(Former Research Associate, now employed in the RSE Team)

Rupal Shah BSc MSc PhD 

Aida Gjoka BSc MSc

I am module leader for MMB8014 ("Genetics of Common Disease") in the Medical Sciences MRes Programmes.

I teach on undergraduate modules BGM2057 ("Medical genomics: from DNA to disease"), BMS3010 ("Genetics and Human Disease") and BGM3061 ("Genetic variation in common disease").

• Articles

  • Saluja S, Darlay R, Lennon R, Keavney BD, Cordell HJ. Whole -genome survival analysis of 144 286 people from the UK Biobank identifies novel loci associated with blood pressure. Journal of Hypertension 2024, 42(9), 1647-1652.
  • Leighton J, Jones DEJ, Dyson JK, Cordell HJ. Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis. BMC Medical Genomics 2024, 17, 157.
  • Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A, Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, Van Dijk FS, Cordell HJ, Aitman TJ. Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome. Journal of Medical Genetics 2024, 61(3), 232-238.
  • Gjoka A, Cordell HJ. Fine-Mapping the Results From Genome-Wide Association Studies of Primary Biliary Cholangitis Using Susie and h2-D2. Genetic Epidemiology 2024, ePub ahead of Print.
  • Qian Q, Wu Y, Cui N, Li Y, Zhou Y, Li Y, Lian M, Xiao X, Miao Q, You Z, Wang Q, Shi Y, Cordell HJ, Timilsina S, Gershwin ME, Li Z, Ma X, Ruqi Tang. Epidemiologic and genetic associations between primary biliary cholangitis and extrahepatic rheumatic diseases. Journal of Autoimmunity 2024, 148, 103289.
  • Topf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bonnemann CG, Cairns A, Chiew M-T, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg E-J, Lornage X, Loscher WN, Malfatti E, Manzur A, Marti P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics 2024, 56, 395–407.
  • Vaskimo LM, Gomon G, Naamane N, Cordell HJ, Pratt A, Knevel R. The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective. Genes 2023, 14(12), 2167.
  • Mulcahy V, Liaskou E, Martin J-E, Kotagiri P, Badrock J, Jones RL, Rushbrook SM, Ryder SD, Thorburn D, Taylor-Robinson SD, Clark G, Cordell HJ, Sandford RN, Jones DE, Hirschfield GM, Mells GF. Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells. Hepatology Communications 2023, 7(4), e0110.
  • Machipisa T, Chishala C, Shaboodien G, Zuhlke LJ, Muhamed B, Pandie S, De Vries J, Laing N, Joachim A, Daniels R, Ntsekhe M, Hugo-Hamman CT, Gitura B, Ogendo S, Lwabi P, Okello E, Damasceno A, Novela C, Mocumbi AO, Madeira G, Musuku J, Mtaja A, Elsayed A, Alhassan HHM, Bode-Thomas F, Yilgwan C, Amusa G, Nkereuwem E, Mulder N, Ramesar R, Lesosky M, Cordell HJ, Chong M, Keavney B, Pare G, Engel ME. Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†. Circulation: Genomic and Precision Medicine 2023, 16(1), E003641.
  • Wibowo CS, Apriyanto A, Ernawan R, Neing D, Susilo R, Cordell HJ, Gatehouse AMR, Edwards MG. Genetic variants associated with leaf spot disease resistance in oil palm (Elaeis guineensis): A genome-wide association study. Plant Pathology 2023, 72(9), 1626-1636.
  • Howey R, Cordell HJ. Comparison of regmed and BayesNetty for exploring causal models with many variables. Genetic Epidemiology 2023, 47(7), 496-502.
  • Hitomi Y, Aiba Y, Ueno K, Nishida N, Kawai Y, Kawashima M, Yasunami M, Gervais O, Ito M, Cordell HJ, Mells GF, Nagasaki M, Tokunaga K, Tsuiji M, Nakamura M. rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis. Journal of Autoimmunity 2022, 126, 102775.
  • Nikolaos N, Kavanagh D, Cordell HJ, Lotery AJ, Patel PJ, Steel DH. Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank. Human Molecular Genetics 2022, 31(16), 2678-2692.
  • Amin HA, Cordell HJ, Martin-Ruiz C, Robinson L, Kirkwood T, Blakemore AI, Drenos F. No Evidence That Genetic Variation at the Klotho Locus Is Associated With Longevity in Caucasians from the Newcastle 85+ Study and the UK Biobank. The Journals of Gerontology Series A 2022, 77(3), 457-461.
  • Govaere O, Petersen SK, Martinez-Lopez N, Wouters J, VanHaele M, Mancina RM, Jamialahmadi O, Bilkei-Gorzo O, Lassen PB, Darlay R, Peltier J, Palmer JM, Younes R, Tiniakos D, Aithal GP, Allison M, Vacca M, Göransson M, Berlinguer-Palmini R, Clark J, Drinnan MJ, Yki-Järvinen H, Dufour JF, Ekstedt M, Francque S, Petta S, Bugianesi E, Schattenberg JM, Day CP, Cordell HJ, Topal B, Clément K, Romeo S, Ratziu V, Roskams T, Daly AK, Anstee QM, Trost M, Härtlova A. Macrophage Scavenger Receptor 1 mediates lipid-induced inflammation in non-alcoholic fatty liver disease. Journal of Hepatology 2022, 76(5), 1001-1012.
  • Fryett JJ, Morris AP, Cordell HJ. Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits. Genetic Epidemiology 2022, 46(8), 629-643.
  • Cordell HJ, Howey R. Confirmation of the superior performance of the causal Graphical Analysis Using Genetics (cGAUGE) pipeline in comparison to various competing alternatives. Wellcome Open Research 2022, 7, 180.
  • Vujkovic M, Ramdas S, Lorenz KM, Guo X, Darlay R, Cordell HJ, He J, Gindin Y, Chung C, Myers R, Schneider C, Park J, Lee K, Serper M, Carr R, Kaplan D, Haas M, MacLean M, Witschey W, Zhu X, Tcheandjieu C, Kember R, Kranzler H, Verma A, Giri A, Klarin D, Sun Y, Huang J, Huffman J, Townsend Creasy K, Hand N, Liu C, Long M, Yao J, Budoff M, Tan J, Li X, Lin H, Chen Y, Taylor K, Chang R, Krauss R, Vilarinho S, Brancale J, Nielsen J, Locke A, Jones M, Verweij N, Baras A, Reddy K, Neuschwander-Tetri B, Schwimmer J, Sanyal A, Chalasani N, Ryan K, Mitchell B, Gill D, Wells A, Manduchi E, Saiman Y, Mahmud N, Miller D, Reaven P, Phillips L, Muralidhar S, DuVall S, Lee J, Assimes T, Pyarajan S, Cho K, Edwards T, Damrauer S, Wilson P, Gaziano J, ODonnell C, Khera A, Grant S, Brown C, Tsao P, Saleheen D, Lotta L, Bastarache L, Anstee QM, Daly A, Meigs J, Rotter JI, Lynch JA, Rader DJ, Voight BF, Chang KM. A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Nature Genetics 2022, 54, 761-771.
  • Asselta R, Paraboschi EM, Gerussi A, Cordell HJ, Mells GF, Sandford RN, Jones DE, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch KA, Carbone M, Cardamone G, Duga S, Gershwin ME, Seldin MF, Invernizzi P. X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. Gastroenterology 2021, 160(7), 2483-2495.
  • Whitfield JB, Masson S, Liangpunsakul S, Mueller S, Aithal GP, Eyer F, Gleeson D, Thompson A, Stickel F, Soyka M, Muellhaupt B, Daly AK, Cordell HJ, Foroud T, Lumeng L, Pirmohamed M, Nalpas B, Jacquet J-M, Moirand R, Nahon P, Naveau S, Perney P, Haber PS, Seitz HK, Day CP, Mathurin P, Morgan TR, Seth D. Obesity, Diabetes, Coffee, Tea, and Cannabis Use Alter Risk for Alcohol-Related Cirrhosis in 2 Large Cohorts of High-Risk Drinkers. The American Journal of Gastroenterology 2021, 116(1), 106-115.
  • Lin W-Y, Fordham SE, Hungate E, Sunter NJ, Elstob C, Xu Y, Park C, Quante A, Strauch K, Gieger C, Skol A, Rahman T, Sucheston-Campbell L, Wang J, Hahn T, Clay-Gilmour AI, Jones GL, Marr HJ, Jackson GH, Menne T, Collin M, Ivey A, Hills RK, Burnett AK, Russell NH, Fitzgibbon J, Larson RA, Le Beau MM, Stock W, Heidenreich O, Alharbi A, Allsup DJ, Houlston RS, Norden J, Dickinson AM, Douglas E, Lendrem C, Daly AK, Palm L, Piechocki K, Jeffries S, Bornhauser M, Rollig C, Altmann H, Ruhnke L, Kunadt D, Wagenfuhr L, Cordell HJ, Darlay R, Andersen MK, Fontana MC, Martinelli G, Marconi G, Sanz MA, Cervera J, Gomez-Segui I, Cluzeau T, Moreilhon C, Raynaud S, Sill H, Voso MT, Lo-Coco F, Dombret H, Cheok M, Preudhomme C, Gale RE, Linch D, Gaal-Wesinger J, Masszi A, Nowak D, Hofmann W-K, Gilkes A, Porkka K, Milosevic Feenstra JD, Kralovics R, Grimwade D, Meggendorfer M, Haferlach T, Krizsan S, Bodor C, Stolzel F, Onel K, Allan JM. Genome-wide association study identifies susceptibility loci for acute myeloid leukemia. Nature Communications 2021, 12(1), 6233.
  • SchwantesAn TH, Darlay R, Mathurin P, Masson S, Liangpunsakul S, Mueller S, Aithal GP, Eyer F, Gleeson D, Thompson A, Muellhaupt B, Stickel F, Soyka M, Goldman D, Liang T, Lumeng L, Pirmohamed M, Nalpas B, Jacquet JM, Moirand R, Nahon P, Naveau S, Perney P, Botwin G, Haber PS, Seitz HK, Day CP, Foroud TM, Daly AK, Cordell HJ, Whitfield JB, Morgan TR, Seth D. Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors. Hepatology 2021, 73(5), 1920-1931.
  • Lahm H, Jia M, Dressen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, Konig KC, Ziegelmuller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Horer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Muller-Myhsok B, Krane M. Congenital heart disease risk loci identified by genome-wide association study in European patients. Journal of Clinical Investigation 2021, 131(2), e141837.
  • Machipisa T, Chong M, Muhamed B, Chishala C, Shaboodien G, Pandie S, De Vries J, Laing N, Joachim A, Daniels R, Ntsekhe M, Hugo-Hamman CT, Gitura B, Ogendo S, Lwabi P, Okello E, Damasceno A, Novela C, Mocumbi AO, Madeira G, Musuku J, Mtaja A, Elsayed A, Elhassan HHM, Bode-Thomas F, Okeahialam BN, Zuhlke LJ, Mulder N, Ramesar R, Lesosky M, Parks T, Cordell HJ, Keavney B, Engel ME, Pare G. Association of Novel Locus with Rheumatic Heart Disease in Black African Individuals: Findings from the RHDGen Study. JAMA Cardiology 2021, 6(9), 1000-1011.
  • Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor S-S, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Mells GF, for the PBC Consortia, Canadian PBC Consortium, Chinese PBC Consortium, Italian PBC Study Group, Japan-PBC-GWAS Consortium, US PBC Consortium, UK-PBC Consortium. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. Journal of Hepatology 2021, 75(3), 572-581.
  • Castellucci LC, Almeida L, Cherlin S, Fakiola M, Francis RW, Carvalho EM, Santos da Hora A, do Lago TS, Figueiredo AB, Cavalcanti CM, Alves NS, Morais KLP, Teixeira-Carvalho A, Dutra WO, Gollob KJ, Cordell HJ, Blackwell JM. A Genome-wide Association Study Identifies SERPINB10, CRLF3, STX7, LAMP3, IFNG-AS1, and KRT80 As Risk Loci Contributing to Cutaneous Leishmaniasis in Brazil. Clinical Infectious Diseases 2021, 72(10), e515-e525.
  • Howey R, Clark AD, Naamane N, Reynard LN, Pratt AG, Cordell HJ. A Bayesian network approach incorporating imputation of missing data enables exploratory analysis of complex causal biological relationships. PLOS Genetics 2021, 17(9), e1009811.
  • Govaere O, Cockell S, Tiniakos D, Queen R, Younes R, Vacca M, Alexander L, Ravaioli F, Palmer J, Petta S, Boursier J, Rosso C, Johnson K, Wonders K, Day CP, Ekstedt M, Oresic M, Darlay R, Cordell H, Marra F, Vidal-Puig A, Bedossa P, Schattenberg JM, Clément K, Allison M, Bugianesi E, Ratziu V, Daly AK, Anstee QM. Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis. Science Translational Medicine 2020, 12(572), eaba4448.
  • Waseem NH, Low S, Shah AZ, Avisetti D, Ostergaard P, Simpson M, Niemiec KA, Martin-Martin B, Aldehlawi H, Usman S, Lee PS, Khawaja AP, Ruddle JB, Shah A, Sackey E, Day A, Jiang Y, Swinfield G, Viswanathan A, Alfano G, Chakarova C, Cordell HJ, Garway-Heath DF, Khaw PT, Bhattacharya SS, Waseem A, Foster PJ. Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma. PLoS Genetics 2020, 16(4), e1008721.
  • Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. Proceedings of the National Academy of Sciences of the United States of America 2020, 117(2), 1113-1118.
  • Fryett JJ, Morris AP, Cordell HJ. Investigation of prediction accuracy and the impact of sample size, ancestry and tissue in transcriptome wide association studies. Genetic Epidemiology 2020, 44(5), 425-441.
  • Cherlin S, Lewis MJ, Plant D, Nair N, Goldmann K, Tzanis E, Barnes MR, McKeigue P, Barrett JH, Pitzalis C, Barton A, Cordell HJ. Investigation of genetically-regulated gene expression and response to treatment in rheumatoid arthritis highlights an association between IL18RAP expression and treatment response. Annals of the Rheumatic Diseases 2020, 79(11), 1446-1452.
  • McGurk KA, Owen B, Watson WD, Nethononda RM, Cordell HJ, Farrall M, Rider OJ, Watkins H, Revell A, Keavney BD. Heritability of haemodynamics in the ascending aorta. Scientific Reports 2020, 10(1), 14356.
  • Anstee QM, Darlay R, Cockell S, Meroni M, Govaere O, Tiniakos D, Burt AD, Bedossa P, Palmer J, Liu YL, Aithal GP, Allison M, Yki-Järvinen H, Vacca M, Dufour JF, Invernizzi P, Prati D, Ekstedt M, Kechagias S, Francque S, Petta S, Bugianesi E, Clement K, Ratziu V, Schattenberg JM, Valenti L, Day CP, Cordell HJ, Daly AK. Genome-Wide Association Study of Non-Alcoholic Fatty Liver and Steatohepatitis in a Histologically-Characterised Cohort. Journal of Hepatology 2020, 73(3), 505-515.
  • Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome. Kidney International Reports 2020, 5(10), 1823-1827.
  • Howey R, Shin S-Y, Relton C, Davey Smith G, Cordell HJ. Bayesian network analysis incorporating genetic anchors complements conventional Mendelian randomization approaches for exploratory analysis of causal relationships in complex data. PLoS Genetics 2020, 16(3), e1008198.
  • Lane LC, Kus A, Bednarczuk T, Bossowski A, Daroszewski J, Jurecka-Lubieniecka B, Cordell HJ, Pearce SHS, Cheetham T, Mitchell AL. An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts. Journal of Clinical Endocrinology and Metabolism 2020, 105(9), dgaa347.
  • Gjerdevik M, Jugessur A, Haaland OA, Romanowska J, Lie RT, Cordell HJ, Gjessing HK. Haplin power analysis: A software module for power and sample size calculations in genetic association analyses of family triads and unrelated controls. BMC Bioinformatics 2019, 20(1), 165.
  • Deelen J, Evans DS, Arking DE, Tesi N, Nygaard M, Liu X, Wojczynski MK, Biggs ML, van der Spek A, Atzmon G, Ware EB, Sarnowski C, Smith AV, Seppala I, Cordell HJ, Dose J, Amin N, Arnold AM, Ayers KL, Barzilai N, Becker EJ, Beekman M, Blanche H, Christensen K, Christiansen L, Collerton JC, Cubaynes S, Cummings SR, Davies K, Debrabant B, Deleuze J-F, Duncan R, Faul JD, Franceschi C, Galan P, Gudnason V, Harris TB, Huisman M, Hurme MA, Jagger C, Jansen I, Jylha M, Kahonen M, Karasik D, Kardia SLR, Kingston A, Kirkwood TBL, Launer LJ, Lehtimaki T, Lieb W, Lyytikainen L-P, Martin-Ruiz C, Min J, Nebel A, Newman AB, Nie C, Nohr EA, Orwoll ES, Perls TT, Province MA, Psaty BM, Raitakari OT, Reinders MJT, Robine J-M, Rotter JI, Sebastiani P, Smith J, Sorensen TIA, Taylor KD, Uitterlinden AG, van der Flier W, van der Lee SJ, van Duijn CM, van Heemst D, Vaupel JW, Weir D, Ye K, Zeng Y, Zheng W, Holstege H, Kiel DP, Lunetta KL, Slagboom PE, Murabito JM. A meta-analysis of genome-wide association studies identifies multiple longevity genes. Nature Communications 2019, 10(1), 3669.
  • Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S. A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts. Human Genomics 2019, 13, 6.
  • Alblooshi H, Al Safar H, Fisher HF, Cordell HJ, El Kashef A, Al Ghaferi H, Shawky M, Reece S, Hulse GK, Tay GK. 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). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2019, 180(1), 68-79.
  • Cherlin S, Plant D, Taylor JC, Colombo M, Spiliopoulou A, Tzanis E, Morgan AW, Barnes MR, McKeigue P, Barrett JH, Pitzalis C, Barton A, Cordell HJ. Prediction of treatment response in rheumatoid arthritis patients using genome‐wide SNP data. Genetic Epidemiology 2018, 42(8), 754-771.
  • Evangelou E, Warren HR, Mosen-Ansorena D, et al. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nature Genetics 2018, 50, 1412-1425.
  • Fryett JJ, Inshaw J, Morris AP, Cordell HJ. Comparison of methods for transcriptome imputation through application to two common complex diseases. European Journal of Human Genetics 2018, 26, 1658-1667.
  • Thalayasingam N, Nair N, Skelton AJ, Massey J, Anderson AE, Clark AD, Diboll J, Lendrem DW, Reynard LN, Cordell HJ, Eyre S, Isaacs JD, Barton A, Pratt AG. CD4+ and B lymphocyte expression quantitative traits at rheumatoid arthritis risk loci in untreated early arthritis: implications for causal gene identification. Arthritis and Rheumatology 2018, 70(3), 361-370.
  • Darlay R, Ayers KL, Mells GF, Hall LS, Liu JZ, Almarri MA, Alexander GJ, Jones DE, Sandford RN, Anderson CA, Cordell HJ. Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and Primary Biliary Cholangitis. PLOS Genetics 2018, 14(12), e1007833.
  • Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific Reports 2017, 7, 14595.
  • Ainsworth HF, Shin S-Y, Cordell HJ. A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements. Genetic Epidemiology 2017, 41(7), 577-586.
  • Carbone M, Sharp SJ, Flack S, Paximadas D, Spiess K, Adgey C, Griffiths L, Lim R, Trembling P, Williamson K, Wareham NJ, Aldersley M, Bathgate A, Burroughs AK, Heneghan MA, Neuberger JM, Thorburn D, Hirschfield GM, Cordell HJ, Alexander GJ, Jones DEJ, Sandford RN, Mells GF, UK-PBC Consortium. 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. Hepatology 2016, 63(3), 930-950.
  • Cordell H, Han Y, Mells G, Li Y, Hirschfield GM, Greene CS, Xie G, Juran BD, Zhu D, Qian DC, Floyd JAB, Morley KI, Prati D, Lleo A, Cusi D, Canadian-US PBC Consortium, Italian PBC Genetics Study Group, UK-PBC Consortium, Gershwin ME, Anderson CA, Lazaridis KN, Invernizzi P, Seldin MF, Sandford RN, Amos CI, Siminovitch K. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. Nature Communications 2015, 6, 8019.
  • Howey R, Mamasoula C, Töpf A, Nudel R, Goodship JA, Keavney BD, Cordell HJ. Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation. American Journal of Human Genetics 2015, 97(3), 419-434.
  • Baurecht H, Hotze M, Brand S, Buning C, Cormican P, Corvin A, Ellinghaus D, Ellinghaus E, Esparza-Gordillo J, Folster-Holst R, Franke A, Gieger C, Hubner N, Illig T, Irvine AD, Kabesch M, Lee YAE, Lieb W, Marenholz I, McLean WHI, Morris DW, Mrowietz U, Nair R, Nothen MM, Novak N, O'Regan GM, Schreiber S, Smith C, Strauch K, Stuart PE, Trembath R, Tsoi LC, Weichenthal M, Barker J, Elder JT, Weidinger S, Cordell HJ, Brown SJ, PAGE Consortium. Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms. American Journal of Human Genetics 2015, 96(1), 104-120.
  • Anderson D, Cordell HJ, Fakiola M, Francis RW, Syn G, Scaman ESH, Davis E, Miles SJ, McLeay T, Jamieson SE, Blackwell JM. First Genome-Wide Association Study in an Australian Aboriginal Population Provides Insights into Genetic Risk Factors for Body Mass Index and Type 2 Diabetes. PLoS One 2015, 10(3), e0119333.
  • Eu-ahsunthornwattana J, Miller EN, Fakiola M, Jeronimo SMB, Blackwell JM, Cordell HJ, Wellcome Trust Case Control. Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data. PLoS Genetics 2014, 10(7), e1004445.
  • Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AFM, Zwinderman AH, Barnett P, Koopman TT, Adriaens ME, Varro A, George Jr AL, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewilling M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJM, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics 2013, 45(7), 822-824.
  • Fakiola M, Strange A, Cordell HJ, Miller EN, Pirinen M, Su Z, Mishra A, Mehrotra S, Monteiro GR, Band G, Bellenguez C, Dronov S, Edkins S, Freeman C, Giannoulatou E, Gray E, Hunt SE, Lacerda HG, Langford C, Pearson R, Pontes NN, Rai M, Singh SP, Smith L, Sousa O, Vukcevic D, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Wilson ME, Deloukas P, Peltonen L, Christiansen F, Witt C, Jeronimo SMB, Sundar S, Spencer CCA, Blackwell JM, Donnelly P, LeishGEN Consortium, Wellcome Trust Case Control. Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nature Genetics 2013, 45(2), 208-213.
  • Ueki M, Cordell HJ. Improved Statistics for Genome-Wide Interaction Analysis. PLoS Genetics 2012, 8(4), e1002625.
  • Ainsworth HE, Unwin J, Jamison DL, Cordell HJ. Investigation of Maternal Effects, Maternal-Fetal Interactions and Parent-of-Origin Effects (Imprinting), Using Mothers and Their Offspring. Genetic Epidemiology 2011, 35(1), 19-45.
  • Ueda H, Howson JMM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KMD, Smith A, DiGenova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RCJ, Howlett S, Healy B, Smink LJ, Lam ACH, Cordell HJ, Walker NM, Bordin C, Hulme H, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Rønningen KS, Savage DA, Carson DJ, Maxwell AP, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SCL. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 2003, 423(6939), 506-511.
  • Cordell HJ, Clayton DG. 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. American Journal of Human Genetics 2002, 70(1), 124-141.
  • Cordell HJ, Wedig GC, Jacobs KB, Elston RC. Multilocus linkage tests based on affected relative pairs. American Journal of Human Genetics 2000, 66(4), 1273-1286.

• Conference Proceedings (inc. Abstract)

  • Ainsworth HF, Cordell HJ. Using gene expression data to identify causal pathways between genotype and phenotype in a complex disease: Application to Genetic Analysis Workshop 19. In: Genetic Analysis Workshop 19: Sequence, Blood Pressure and Expression Data. 2016, Vienna, Austria: BioMed Central Ltd.

• Notes

  • Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor S-S, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF. 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)]. Journal of Hepatology 2023, 78(4), 883-883.
  • Whitfield JB, Schwantes-An T-H, Darlay R, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Day CP, Eyer F, Foroud T, Gleeson D, Goldman D, Haber PS, Jacquet J-M, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Mullhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trepo E, Morgan TR, Seth D. 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)). Journal of Hepatology 2022, 76(5), 1244-1245.
  • Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor S-S, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Byun J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mason A, Vincent C, Xie G, Zhang J, Affronti A, Almasio PL, Alvaro D, Andreone P, Andriulli A, Azzaroli F, Battezzati PM, Benedetti A, Bragazzi M, Brunetto M, Bruno S, Calvaruso V, Cardinale V, Casella G, Cazzagon N, Ciaccio A, Coco B, Colli A, Colloredo G, Colombo M, Colombo S, Cristoferi L, Cursaro C, Croce LS, Crosignani A, D'Amato D, Donato F, Elia G, Fabris L, Fagiuoli S, Ferrari C, Floreani A, Galli A, Giannini E, Grattagliano I, Lampertico P, Lleo A, Malinverno F, Mancuso C, Marra F, Marzioni M, Massironi S, Mattalia A, Miele L, Milani C, Morini L, Morisco F, Muratori L, Muratori P, Niro GA, O'Donnell S, Picciotto A, Portincasa P, Rigamonti C, Ronca V, Rosina F, Spinzi G, Strazzabosco M, Tarocchi M, Tiribelli C, Toniutto P, Valenti L, Vinci M, Zuin M, Nakamura H, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Ishibashi H, Ito M, Migita K, Ohira H, Katsushima S, Naganuma A, Sugi K, Komatsu T, Mannami T, Matsushita K, Yoshizawa K, Makita F, Nikami T, Nishimura H, Kouno H, Kouno H, Ota H, Komura T, Nakamura Y, Shimada M, Hirashima N, Komeda T, Ario K, Nakamuta M, Yamashita T, Furuta K, Kikuchi M, Naeshiro N, Takahashi H, Mano Y, Tsunematsu S, Yabuuchi I, Shimada Y, Yamauchi K, Sugimoto R, Sakai H, Mita E, Koda M, Tsuruta S, Kamitsukasa H, Sato T, Masaki N, Kobata T, Fukushima N, Ohara Y, Muro T, Takesaki E, Takaki H, Yamamoto T, Kato M, Nagaoki Y, Hayashi S, Ishida J, Watanabe Y, Kobayashi M, Koga M, Saoshiro T, Yagura M, Hirata K, Tanaka A, Takikawa H, Zeniya M, Abe M, Onji M, Kaneko S, Honda M, Arai K, Arinaga-Hino T, Hashimoto E, Taniai M, Umemura T, Joshita S, Nakao K, Ichikawa T, Shibata H, Yamagiwa S, Seike M, Honda K, Sakisaka S, Takeyama Y, Harada M, Senju M, Yokosuka O, Kanda T, Ueno Y, Kikuchi K, Ebinuma H, Himoto T, Yasunami M, Murata K, Mizokami M, Kawata K, Shimoda S, Miyake Y, Takaki A, Yamamoto K, Hirano K, Ichida T, Ido A, Tsubouchi H, Chayama K, Harada K, Nakanuma Y, Maehara Y, Taketomi A, Shirabe K, Soejima Y, Mori A, Yagi S, Uemoto S, H E, Tanaka T, Yamashiki N, Tamura S, Sugawara Y, Kokudo N, Chalasani N, Luketic V, Odin J, Chopra K, Abecasis G, Cantor M, Coppola G, Economides A, Lotta LA, Overton JD, Reid JG, Shuldiner A, Beechert C, Forsythe C, Fuller ED, Gu Z, Lattari M, Lopez A, Schleicher TD, Padilla MS, Toledo K, Widom L, Wolf SE, Pradhan M, Manoochehri K, Ulloa RH, Bai X, Balasubramanian S, Barnard L, Blumenfeld A, Eom G, Habegger L, Hawes A, Khalid S, Maxwell EK, Salerno W, Staples JC, Jones MB, Mitnaul LJ, Sturgess R, Healey C, Yeoman A, Gunasekera AV, Kooner P, Kapur K, Sathyanarayana V, Kallis Y, Subhani J, Harvey R, McCorry R, Rooney P, Ramanaden D, Evans R, Mathialahan T, Gasem J, Shorrock C, Bhalme M, Southern P, Tibble JA, Gorard DA, Jones S, Mells G, Mells G, Mulcahy V, Mulcahy V, Srivastava B, Foxton MR, Collins CE, Elphick D, Karmo M, Porras-Perez F, Mendall M, Yapp T, Patel M, Ede R, Sayer J, Jupp J, Fisher N, Carter MJ, Koss K, Shah J, Piotrowicz A, Scott G, Grimley C, Gooding IR, Williams S, Tidbury J, Lim G, Cheent K, Levi S, Mansour D, Beckley M, Hollywood C, Wong T, Marley R, Ramage J, Gordon HM, Ridpath J, Ngatchu T, Bob Grover VP, Shidrawi RG, Abouda G, Corless L, Narain M, Rees I, Brown A, Taylor-Robinson S, Wilkins J, Grellier L, Banim P, Das D, Heneghan MA, Curtis H, Matthews HC, Mohammed F, Aldersley M, Srirajaskanthan R, Walker G, McNair A, Sharif A, Sen S, Bird G, Prince MI, Prasad G, Kitchen P, Barnardo A, Oza C, Sivaramakrishnan NN, Gupta P, Shah A, Evans CD, Saha S, Pollock K, Bramley P, Mukhopadhya A, Barclay ST, McDonald N, Bathgate AJ, Palmer K, Dillon JF, Rushbrook SM, Przemioslo R, McDonald C, Millar A, Tai C, Mitchell S, Metcalf J, Shaukat S, Ninkovic M, Shmueli U, Davis A, Naqvi A, Lee TJ, Ryder S, Collier J, Klass H, Cramp ME, Sharer N, Aspinall R, Ghosh D, Douds AC, Booth J, Williams E, Hussaini H, Christie J, Mann S, Thorburn D, Marshall A, Patanwala I, Ala A, Maltby J, Matthew R, Corbett C, Vyas S, Singhal S, Gleeson D, Misra S, Butterworth J, George K, Harding T, Douglass A, Mitchison H, Panter S, Shearman J, Bray G, Roberts M, Butcher G, Forton D, Mahmood Z, Cowan M, Das D, Ch'ng CL, Rahman M, Whatley GCA, Wesley E, Mandal A, Jain S, Pereira SP, Wright M, Trivedi P, Gordon FH, Unitt E, Palejwala A, Austin A, Vemala V, Grant A, Higham AD, Brind A, Mathew R, Cox M, Ramakrishnan S, King A, Whalley S, Fraser J, Thomson SJ, Bell A, Wong VS, Kia R, Gee I, Keld R, Ransford R, Gotto J, Millson C. 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]. Journal of Hepatology 2022, 76(2), 489.
  • Lin W-Y, Fordham SE, Hungate E, Sunter NJ, Elstob C, Xu Y, Park C, Quante A, Strauch K, Gieger C, Skol A, Rahman T, Sucheston-Campbell L, Wang J, Hahn T, Clay-Gilmour AI, Jones GL, Marr HJ, Jackson GH, Menne T, Collin M, Ivey A, Hills RK, Burnett AK, Russell NH, Fitzgibbon J, Larson RA, Le Beau MM, Stock W, Heidenreich O, Alharbi A, Allsup DJ, Houlston RS, Norden J, Dickinson AM, Douglas E, Lendrem C, Daly AK, Palm L, Piechocki K, Jeffries S, Bornhauser M, Rollig C, Altmann H, Ruhnke L, Kunadt D, Wagenfuhr L, Cordell HJ, Darlay R, Andersen MK, Fontana MC, Martinelli G, Marconi G, Sanz MA, Cervera J, Gomez-Segui I, Cluzeau T, Moreilhon C, Raynaud S, Sill H, Voso MT, Lo-Coco F, Dombret H, Cheok M, Preudhomme C, Gale RE, Linch D, Gaal-Wesinger J, Masszi A, Nowak D, Hofmann W-K, Gilkes A, Porkka K, Milosevic Feenstra JD, Kralovics R, Grimwade D, Meggendorfer M, Haferlach T, Krizsan S, Bodor C, Stolzel F, Onel K, Allan JM. 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). Nature Communications 2022, 13(1), 2.
  • Deelen J, Evans DS, Arking DE, Tesi N, Nygaard M, Liu X, Wojczynski MK, Biggs ML, van der Spek A, Atzmon G, Ware EB, Sarnowski C, Smith AV, Seppala I, Cordell HJ, Dose J, Amin N, Arnold AM, Ayers KL, Barzilai N, Becker EJ, Beekman M, Blanche H, Christensen K, Christiansen L, Collerton JC, Cubaynes S, Cummings SR, Davies K, Debrabant B, Deleuze J-F, Duncan R, Faul JD, Franceschi C, Galan P, Gudnason V, Harris TB, Huisman M, Hurme MA, Jagger C, Jansen I, Jylha M, Kahonen M, Karasik D, Kardia SLR, Kingston A, Kirkwood TBL, Launer LJ, Lehtimaki T, Lieb W, Lyytikainen L-P, Martin-Ruiz C, Min J, Nebel A, Newman AB, Nie C, Nohr EA, Orwoll ES, Perls TT, Province MA, Psaty BM, Raitakari OT, Reinders MJT, Robine J-M, Rotter JI, Sebastiani P, Smith J, Sorensen TIA, Taylor KD, Uitterlinden AG, van der Flier W, van der Lee SJ, van Duijn CM, van Heemst D, Vaupel JW, Weir D, Ye K, Zeng Y, Zheng W, Holstege H, Kiel DP, Lunetta KL, Slagboom PE, Murabito JM. 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). Nature Communications 2021, 12(1), 2463.
  • Trevino CE, Holleman AM, Corbitt H, Maslen CL, Rosser TC, Cutler DJ, Johnston HR, Rambo-Martin BL, Oberoi J, Dooley KJ, Capone GT, Reeves RH, Cordell HJ, Keavney BD, Agopian AJ, Goldmuntz E, Gruber PJ, O'Brien JE, Bittel DC, Wadhwa L, Cua CL, Moskowitz IP, Mulle JG, Epstein MP, Sherman SL, Zwick ME. 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). Scientific Reports 2021, 11(1), 15164.
  • Fryett JJ, Inshaw J, Morris AP, Cordell HJ. 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). European Journal of Human Genetics 2020, 28, 1135-1136.