Research interests in the group include both simple and complex inherited disorders from diseases such as haemochromatosis and the aminoacidurias to more complex dieases such as thyroid disease, multiple sclerosis and inflammatory bowel disease. A large project called the 'Aussie Normals' in collaboration with staff at The Canberra Hospital is investigating genotype and phenotype in healthy individuals in the Canberra Region.
- Fowler, EV; Doecke, J; Simms, LA; et al ATG16L1 T300A Shows Strong Associations With Disease Subgroups in a Large Australian IBD Population: Further Support for Significant Disease Heterogeneity., American Journal of Gastroenterology 103:10, pp 2519-2526,
- Schmuck, E; Cappello, J; Coggan, M; et al.Deletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugs, International Journal of Biochemistry & Cell BIOLOGY 40:11, pp 2553-2559,
- Hugot, JP; Zaccaria, I; Cavanaugh, J; et al, Prevalence of CARD15/NOD2 mutations in Caucasian healthy people, American Journal of Gastroenterology 102:6, pp1259-1267
- Hume, GE; Fowler, EV; Lincoln, D; et al, Angiotensinogen and transforming growth factor beta 1: novel genes in the pathogenesis of Crohn's disease, Journal of Medical Genetics 43:10 Published: OCT 2006,
- IL1RN genotype as a risk factor for joint pain in hereditary haemochromatosis?, Walker, EJ; Riddell, J; Rodgers, HJ; et al., Annals of the Rheumatic Diseases 65, pp 271-272
- Cavanaugh, J, NOD2: Ethnic and geographic differences, World Journal of Gastroenterology 12:23, pp 3673-3677
- Screening for hemochromatosis in asymptomatic subjects with or without a family history, Powell, LW; Dixon, JL; Ramm, GA; et al., Archives of Internal Medicine 166:3, pp 294-301
- Walsh, A; Dixon, JL; Ramm, GA; et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis, Clinical Gastroenterology and Hepatology 4:11, pp 1403-1410
- Schmuck, EM; Board, PG; Whitbread, AK; et al. Characterization of the monomethylarsonate reductase and dehydroascorbate reductase activities of Omega class glutathione transferase variants: implications for arsenic metabolism and the age-at-onset of Alzheimer's and Parkinson's diseases, Pharmacogenetics and Genomics 15:7, pp 493-
- Peters, KE; O'Callaghan, NJ; Cavanaugh, Lack of association of the CD14 promoter polymorphism-159C/T with Caucasian inflammatory bowel disease, JA Scandinavian Journal of Gastroenterology 40:2, pp 194-197.