Heather J Cordell

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. pmc Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach
    Pascal Croiseau
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ UK
    BMC Proc 3:S61. 2009
  2. pmc Joint linkage and association analysis for identification of potentially causal polymorphisms in GAW15 data
    Joanna M Biernacka
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Proc 1:S36. 2007
  3. pmc Linkage and association analysis of GAW15 simulated data: fine-mapping of chromosome 6 region
    Pimphen Charoen
    University of Cambridge, Diabetes and Inflammation Laboratory, Department of Medical Genetics, CIMR, Addenbrookes Hospital, Cambridge, CB2 2XY, UK
    BMC Proc 1:S23. 2007
  4. pmc A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland
    Qing Qiao
    Department of Public Health, University of Helsinki, Finland
    BMC Genet 8:84. 2007
  5. pmc Detecting gene-gene interactions that underlie human diseases
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Nat Rev Genet 10:392-404. 2009
  6. pmc Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
    Heather J Cordell
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 45:822-4. 2013
  7. ncbi request reprint A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot
    Judith A Goodship
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Cardiovasc Genet 5:287-92. 2012
  8. pmc Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
    Heather J Cordell
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Hum Mol Genet 22:1473-81. 2013
  9. ncbi request reprint Imputation without doing imputation: a new method for the detection of non-genotyped causal variants
    Richard Howey
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom
    Genet Epidemiol 38:173-90. 2014
  10. pmc Estimation and testing of gene-environment interactions in family-based association studies
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Genomics 93:5-9. 2009

Collaborators

Detail Information

Publications27

  1. pmc Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach
    Pascal Croiseau
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ UK
    BMC Proc 3:S61. 2009
    ..Overall, the penalized regression approach did not appear to offer any advantage with respect to either detection or localization of disease-associated polymorphisms, compared with the single-locus approach...
  2. pmc Joint linkage and association analysis for identification of potentially causal polymorphisms in GAW15 data
    Joanna M Biernacka
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Proc 1:S36. 2007
    ..We compare the power of several methods for testing the null hypothesis that association with a particular variant can explain the observed linkage signal, and discuss scenarios under which the various methods may be advantageous...
  3. pmc Linkage and association analysis of GAW15 simulated data: fine-mapping of chromosome 6 region
    Pimphen Charoen
    University of Cambridge, Diabetes and Inflammation Laboratory, Department of Medical Genetics, CIMR, Addenbrookes Hospital, Cambridge, CB2 2XY, UK
    BMC Proc 1:S23. 2007
    ....
  4. pmc A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland
    Qing Qiao
    Department of Public Health, University of Helsinki, Finland
    BMC Genet 8:84. 2007
    ....
  5. pmc Detecting gene-gene interactions that underlie human diseases
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Nat Rev Genet 10:392-404. 2009
    ..I also discuss the difficulties in determining the biological relevance of statistical interactions...
  6. pmc Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
    Heather J Cordell
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 45:822-4. 2013
    ..0 × 10⁻⁵; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10⁻¹⁰). Genotype accounted for ~9% of the population-attributable risk of ASD...
  7. ncbi request reprint A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot
    Judith A Goodship
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Cardiovasc Genet 5:287-92. 2012
    ..In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified...
  8. pmc Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
    Heather J Cordell
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Hum Mol Genet 22:1473-81. 2013
    ..This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF...
  9. ncbi request reprint Imputation without doing imputation: a new method for the detection of non-genotyped causal variants
    Richard Howey
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom
    Genet Epidemiol 38:173-90. 2014
    ..Our method thus, in some cases, eliminates the need for more complex methods such as sequencing and imputation, and provides a useful additional test that may be used to identify genetic regions of interest...
  10. pmc Estimation and testing of gene-environment interactions in family-based association studies
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Genomics 93:5-9. 2009
    ..I discuss some recent extensions that allow larger pedigree structures with some missing genotype data and present computer simulations to compare the performance of several competing approaches...
  11. pmc Identification of grouped rare and common variants via penalized logistic regression
    Kristin L Ayers
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
    Genet Epidemiol 37:592-602. 2013
    ..In simulations, our method performs favorably when compared to many previously proposed approaches, including its predecessor, the sparse group lasso [Friedman et al., 2010]. ..
  12. pmc PREMIM and EMIM: tools for estimation of maternal, imprinting and interaction effects using multinomial modelling
    Richard Howey
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    BMC Bioinformatics 13:149. 2012
    ..These effects are estimated by EMIM, incorporating chosen assumptions such as Hardy-Weinberg equilibrium or exchangeability of parental matings as required...
  13. pmc Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
    Rachel Soemedi
    Institute of Genetic Medicine, Newcastle University, Newcastle, UK
    Hum Mol Genet 21:1513-20. 2012
    ..1 exhibit a degree of phenotypic specificity in CHD, and implicate GJA5 as the gene responsible for the CHD phenotypes observed with copy number imbalances at this locus...
  14. pmc Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
    Rachel Soemedi
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Am J Hum Genet 91:489-501. 2012
    ..1, deletions at 15q11.2 and those implicating Wnt signaling are the most significant contributors to the risk of sporadic CHD. Rare de novo CNVs identified in CHD trios exhibit paternal origin bias...
  15. doi request reprint Filaggrin null mutations and childhood atopic eczema: a population-based case-control study
    Sara J Brown
    Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
    J Allergy Clin Immunol 121:940-46.e3. 2008
    ..Null mutations within the filaggrin gene (FLG) are associated with moderate-to-severe atopic eczema; their role in mild-to-moderate eczema in the general population is unknown...
  16. pmc Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank
    Heather J Lambert
    Department of Paediatric Nephrology, Royal Victoria Infirmary, Newcastle NE1 4LP, UK
    Clin J Am Soc Nephrol 6:760-6. 2011
    ..The objective was to establish a DNA collection and clinical database from U.K. families containing affected sibling pairs for future VUR genetics studies. The cohort's clinical characteristics have been described...
  17. ncbi request reprint HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
    Ann K Daly
    Institute of Cellular Medicine and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 41:816-9. 2009
    ..1, P = 1.4 x 10(-8)). These findings provide new insights into the mechanism of flucloxacillin DILI and have the potential to substantially improve diagnosis of this serious disease...
  18. doi request reprint Clinical and pharmacogenetic influences on response to hydroxychloroquine in discoid lupus erythematosus: a retrospective cohort study
    Shyamal Wahie
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
    J Invest Dermatol 131:1981-6. 2011
    ..This will have the potential to further inform the clinical management of this disfiguring photosensitive disease...
  19. pmc SNP selection in genome-wide and candidate gene studies via penalized logistic regression
    Kristin L Ayers
    Institute of Human Genetics, Central Parkway, Newcastle upon Tyne, United Kingdom
    Genet Epidemiol 34:879-91. 2010
    ....
  20. pmc Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls
    Chrysovalanto Mamasoula
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Cardiovasc Genet 6:347-53. 2013
    ..Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious...
  21. pmc Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK
    J Am Soc Nephrol 21:113-23. 2010
    ..The results of this study, which is the largest to date investigating the genetics of reflux, suggest that major loci may not exist for this common renal tract malformation within European populations...
  22. pmc 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
    Helen R Griffin
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Heart 96:1651-5. 2010
    ..Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1...
  23. doi request reprint Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility
    Anna L Mitchell
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 94:5139-45. 2009
    ..Our aim was to determine whether variants in PD-L1 are also associated with autoimmune Addison's disease (AAD) and to replicate the previous association in patients with GD from the United Kingdom...
  24. pmc Penalized-regression-based multimarker genotype analysis of Genetic Analysis Workshop 17 data
    Kristin L Ayers
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Proc 5:S92. 2011
    ....
  25. pmc Investigation of maternal effects, maternal-fetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring
    Holly F Ainsworth
    School of Mathematics and Statistics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Genet Epidemiol 35:19-45. 2011
    ..Our approach scales up easily to allow the analysis of large-scale genome-wide association data, provided both mothers and affected offspring have been genotyped at all variants of interest...
  26. pmc Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
    Helen R Griffin
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 4:e4978. 2009
    ..Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility...
  27. ncbi request reprint Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility
    Alison Sutherland
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 92:3338-41. 2007
    ..Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID rs11568821) in the programmed cell death (PDCD1) gene was associated with systemic lupus erythematosus and rheumatoid arthritis...