David Lorenzo DUFFY MBBS, PhD
Genetic Epidemiology Laboratory
The QIMR Berghofer Medical Research Institute
300 Herston Rd, Herston
(Int + 61 + 7 +) 33620217
David.Duffy at qimrberghofer () edu () au


    Book Chapters

  1. Duffy DL (2000). The Cotwin Case-Control Study. In: Spector T, Snieder H, MacGregor A (Eds). Advances in twin and sib-pair analysis. London: Greenwich Medical Media. pp 53-66.
  2. Duffy DL (2000). Genetics of asthma. In: Walls RS, Jenkins CR (Eds). Understanding asthma. A management companion. Sydney: Maclennan and Petty. pp 5.1-5.5.
  3. Duffy DL (2015). In Cooper, D. N. (Ed.) Genetics of Eye Colour eLS (Encyclopedia of life sciences) John Wiley & Sons Ltd, Chichester.
  4. Duffy DL (2017). Analysis of Quantitative Trait Loci. Methods Mol Biol. 1526: 191-203.

    Papers published in peer reviewed journals

  5. Duffy DL, Battistutta D, Martin NG, Hopper JL, Mathews JD (1990). Genetics of asthma and hayfever in Australian twins. American Review of Respiratory Disease 142: 1351-1358.
  6. Duffy DL, Mitchell CA (1991). Respiratory symptoms in Queensland schoolchildren. An association between month of birth and respiratory illness. Clinical and Experimental Allergy 21:231-233.
  7. Duffy DL, Eaves LJ (1991). Informativeness of twin-nuclear family and nuclear family designs for segregation analysis. Genetic Epidemiology 8:231-235.
  8. Emmerson BT, Nagel SL, O'Connor J, Duffy DL, Martin NG (1991) The genetics of renal excretion of urate in man. Adv Exp Med Biol 309A: 181-183.
  9. Duffy DL, Macdonald AM, Easton DF, Ponder BAJ, Martin NG (1992). Is the genetics of moliness simply the genetics of sun exposure? A path analysis of nevus counts in British twins, Genetic Analysis Workshop 7: Issues in gene mapping and the detection of major genes. Cytogenetics and Cell Genetics 59:194-196.
  10. Bellamy N, Duffy D, Martin NG, Mathews JD (1992). Rheumatoid arthritis in twins: a study of aetiopathogenesis based on the Australian Twin Registry. Annals of the Rheumatic Diseases 51:588-593.
  11. Emmerson BT, Nagel SL, Duffy DL, Martin NG (1992). Genetic control of the renal clearance of urate - A study of twins. Annals of the Rheumatic Diseases 51:375- 377.
  12. Chenevix-Trench G, Jones K, Green AC, Duffy DL, Martin NG (1992). Cleft lip with or without cleft palate: associations with Transforming Growth Factor Alpha and retinoic acid. American Journal of Human Genetics 51:1377-1385.
  13. Duffy DL, Spelman LS, Martin NG (1993). Psoriasis in Australian twins. Journal of the American Academy of Dermatology 29: 428-434.
  14. Duffy DL, Mitchell CM (1993). Respiratory symptoms in Queensland schoolchildren: risk factors for respiratory symptoms and decreased lung function. Thorax 48: 1021-1024.
  15. Duffy DL, O'Connell DL, Heller RF, Martin NG (1993). Risk factors for atherosclerosis in twins. Genetic Epidemiology 10: 557-562.
  16. Duffy DL, Martin NG (1994). Inferring the direction of causation in cross-sectional twin data: theoretical and empirical considerations. Genetic Epidemiology 11: 483- 502.
  17. Neale MC, Duffy DL (1994). Direction of causation: reply to commentaries. Genetic Epidemiology 11: 463-472.
  18. Sambrook PN, Spector TD, Seeman E, Bellamy N, Buchanan RRC, Duffy DL, Martin NG, Prince R, Owens E, Silman AJ, Eisman JA (1995). Osteoporosis in rheumatoid arthritis: a monozygotic co-twin controlled study. Arthritis & Rheumatism 38: 806-809.
  19. Duffy DL (1994). Biometrical genetic analysis of the cotwin control design. Behavior Genetics 24: 341-344.
  20. Aitken JF, Duffy DL, Green A, Youl P, MacLennan R, Martin NG (1994). Heterogeneity of melanoma risk in families of melanoma patients. American Journal of Epidemiology 140:961-973.
  21. Duffy DL, Manicavasagar V, O'Connell DL, Silove D (1994). Type A personality in Australian twins. Behavior Genetics 24: 469-475.
  22. Roberts LJ, Duffy DL, Martin NG (1995). A psychometric evaluation of the Short Interpersonal Reactions Inventory (SIRI) in an Australian twin sample. Personality and Individual Differences 18: 307-320.
  23. Duffy DL (1995). Screening a 2 cM genetic map for allelic association: a simulated oligogenic trait. Genetic Epidemiology 12: 595-600.
  24. Barnes KC, Neely JD, Duffy DL, Freidhoff LR, Breazeale DR, Schou C, Naidu RP, Levett PN, Renault B, Kucherlapati R, Iozzino S, Ehrlich E, Beaty TH, Marsh DG (1996). Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: evidence from Afro-Caribbean and Caucasian populations. Genomics 37: 41-50.
  25. Mitchell LE, Duffy DL, Duffy P, Bellingham G, Martin NG (1997). Genetic effects on variation in red blood cell folate in adults: implications for the familial aggregation of neural tube defects. American Journal of Human Genetics 60: 433- 438.
  26. The Collaborative Study of the Genetics of Asthma (CSGA) (1997). A genome- wide search for asthma susceptibility loci in ethnically diverse populations. Nature Genetics 15: 389-392.

    (CSGA Centre 1 authors were: Marsh DG, Maestri NE, Freidhoff LR, Barnes KC, Togias A, Ehrlich E, Beaty TH, Duffy DL, Rosenthal R, Imani F, Dunston G, Furbert-Harris P, Malveaux F).

  27. Wyszynski DF, Duffy DL, Beaty TH (1997). Maternal cigarette smoking and oral clefts: a meta-analysis. Cleft Palate-Craniofacial Journal 34: 206-210.
  28. Duffy DL (1997). The genetic epidemiology of asthma. Epidemiologic Reviews 19: 129-143.
  29. Maestri NE, Beaty TH, Hetmanski J, Smith EA, MacIntosh I, Wyszynski DF, Liang K-Y, Duffy DL, VanderKolk C (1997). Application of Transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models. American Journal of Medical Genetics 73: 337-344.
  30. Juo SH, Beaty TH, Duffy DL, Maestri NE, Prenger VL, Zeiger J, Lei HH, Coresh J (1997). A comprehensive analysis of complex traits in problem 2A. Genetic Epidemiology 14: 815-820.
  31. Nickel R, Wahn U, Hizawa N, Maestri N, Duffy DL, Barnes KC, Beyer K, Forster J, Bergmann R, Zepp F, Wahn V, Marsh DG (1997). Evidence for linkage of chromosome 12q15-q24.1 markers to high total serum IgE concentrations in children of the German Multicenter Allergy Study. Genomics 46: 159-162.
  32. Duffy DL, Mitchell CA, Martin NG (1998). Genetic and environmental contributions to asthma. A cotwin-control study. American Journal of Respiratory and Critical Care Medicine 157: 840-845.
  33. Sluyter R, Tovey ER, Duffy DL, Britton WJ (1998). Limited genetic control of specific IgE responses to ryegrass pollen allergens in Australian twins. Clinical and Experimental Allergy 28: 322-331.
  34. Tovey ER, Sluyter R, Duffy DL, Britton WJ (1998). Limited evidence for Genetic control of specific IgE to house dust mite allergens by immunoblotting of twin sera. Journal of Allergy and Clinical Immunology 101: 491-497.
  35. Bellamy N, Duffy DL, Sambrook P, Buchanan RRC, Brooks PM, Dunckley H, Healey SC, Mason S, Martin NG (1998). A methodological appraisal of the impact of different classification procedures used in three different phases of the Australian Rheumatoid Arthritis Twin Survey. Inflammopharmacology 6: 81-89.
  36. Duffy DL, Battistutta D, Mathews JD, Martin NG (1998). A factor analysis of associations among self-reported immune related symptoms in a large twin sample. Twin Research 1: 71-77.
  37. Hizawa N, Collins G, Rafnar T, Huang S-K, Duffy DL, Weber JL, Freidhoff LR, , Ehrlich E, Marsh DG, Beaty TH, Barnes KC (1998). Linkage analysis of Dermatophagoides pteronyssinus (Der p)-specific IgE responsiveness with polymorphic markers on chromosome 6p21 (HLA-D region) in Caucasian families by Transmission/Disequilibrium Test (TDT). Journal of Allergy and Clinical Immunology 102: 443-448.
  38. Hizawa N, Freidhoff LR, Ehrlich E, Chiu Y-F, Duffy DL, Schou C, Dunston GD, Huang S-K, Beaty TH, Marsh DG, Barnes KC (1998). Genetic influences of chromosomes 5q31-q33 and 11q13 on specific IgE responsiveness to common inhaled allergens among African-American families. Journal of Allergy and Clinical Immunology 102: 449-453.
  39. Hizawa N, Freidhoff LR, Chiu Y-F, Ehrlich E, Luehr CA, Anderson JL, Duffy DL, Dunston GD, Weber JL, Huang S-K, Barnes KC, Marsh DG, Beaty TH (1998). Genetic regulation of Dermatophagoides pteronyssinus (Der p)-specific IgE responsiveness: a genome-wide multipoint linkage analysis. Journal of Allergy and Clinical Immunology 102: 436-442.
  40. Shaw JT, Lovelock PK, Kesting JB, Cardinal J, Duffy DL, Wainwright B, Cameron DP (1998). Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q. Diabetes 47: 1793-1796.
  41. Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M (1998). Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. American Journal of Human Genetics 62: 1507-1515.
  42. Juo SHH, Beaty TH, Duffy DL, Coresh J, Kwiterovich PO (1999). No common major gene for apolipoprotein A-I and HDL3 levels: evidence from bivariate segregation analysis. Genetic Epidemiology 16: 54-68.
  43. Aitken J, Welch J, Duffy DL, Milligan A, Green A, Martin NG, Hayward N (1999). CDKN2A variants in a population-based sample of Queensland families with melanoma. Journal of the National Cancer Institute 91: 446-452.
  44. Zhu G, Duffy DL, Eldridge A, Grace M, Mayne C, O'Gorman L, Aitken JF, Neale MC, Hayward NK, Green AC, Martin NG (1999). A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: A maximum-likelihood combined linkage and association analysis in twins and their sibs. American Journal of Human Genetics 65: 483-492.
  45. Barnes KC, Freidhoff LR, Nickel R, Chiu Y-F, Juo S-H, Hizawa N, Naidu RP, Ehrlich E, Duffy DL, Schou C, Levett PN, Marsh DG, Beaty TH (1999). Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy. Journal of Allergy and Clinical Immunology 104: 485-491.
  46. Dabrowska DM, Duffy DL, Zhang ZD (1999). Hazard and density estimation from bivariate censored data. Journal of Nonparametric Statistics 10: 67-93.
  47. Do K-A, Broom BM, Kuhnert P, Duffy DL, Todorov AA, Treloar SA, Martin NG (2000). Genetic analysis of the age at menopause by using estimating equations and Bayesian random effects models. Statistics in Medicine 19: 1217-1235.
  48. Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, Green AC, Hayward NK, Martin NG, Sturm RA (2000). MC1R polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? American Journal of Human Genetics 66: 176-186.
  49. Whitfield JB, Cullen LM, Jazwinska EC, Powell LW, Heath AC, Zhu G, Duffy DL, Martin NG (2000). Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. American Journal of Human Genetics 66: 1246-1258.
  50. Montgomery GW, Duffy DL, Hall J, Haddon BR, Kudo M, McGee EA, Palmer JS, Hsueh AJ, Boomsma DI, and Martin NG (2000). Dizygotic twinning is not linked to variation at the alpha-inhibin locus on human chromosome 2. Journal of Clinical Endocrinology and Metabolism 85: 3391-3395.
  51. Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffiths LR, Parsons PG, Green AC, Sturm RA (2001). Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. The Journal of Investigative Dermatology 116: 224-229.
  52. Kirk KM, Blomberg SP, Duffy DL, Heath AC, Owens IPF, Martin NG (2001). Natural selection and quantitative genetics of life-history traits in western women: a twin study. Evolution 55: 423­435.
  53. Whitfield JB, Zhu G, Duffy DL, Birley AJ, Madden PA, Heath AC, Martin NG. Variation in alcohol pharmacokinetics as a risk factor for alcohol dependence. Alcohol Clin Exp Res 25:1257-1263.
  54. Montgomery GW, Duffy DL, Hall J, Kudo M, Martin NG, Hsueh AJ (2001). Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning. Lancet 357: 773-774.
  55. Duffy DL, Montgomery GW, Hall J, Mayne C, Healey SC, Brown J, Boomsma DI, Martin NG (2001). Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB. American Journal of Medical Genetics 100: 182-186.
  56. Duffy DL, Martin NG (2001). Increasing the response rate to a mailed questionnaire by increasing the number of stamps on the return envelope: a cotwin control study. Twin Research 4:71-72.
  57. Box NF, Duffy DL, Chen W, Stark M, Martin NG, Sturm RA, Hayward NK (2001). MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. American Journal of Human Genetics 69: 765-773.
  58. Duffy DL (2001). Applying statistical approaches in the dissection of genes versus environment for asthma and allergic disease. Current Opinion in Allergy and Clinical Immunology 1: 431-434.
  59. Duffy D, Montgomery G, Treloar S, Birley A, Kirk K, Boomsma D, Beem L, de Geus E, Slagboom E, Knighton J, Reed P, Martin N (2001). IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers. Nature Genetics 28: 315.
  60. Good DA, Busfield F, Duffy DL, Lovelock PK, Kesting JB, Cameron DP, Shaw JT (2001). Familial Paget's disease of bone: Nonlinkage to the PDB1 and PDB2 loci on chromosome 6p and 18q in a large pedigree. Journal of Bone and Mineral Research 16: 33-38.
  61. Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT (2002). Linkage of Paget Disease of Bone to a Novel Region on 18q23. American Journal of Human Genetics 70: 517-525.
  62. Busfield F, Duffy DL, Kesting JB, Walker SM, Lo P, Good D, Tate H, Watego D, Marczak M, Hayman Shaw JT (2002). A genomewide search for Type 2 diabetes-susceptibility loci in indigenous Australians. American Journal of Human Genetics 70: 349-357.
  63. Karihaloo C, Tovey ER, Mitakakis TZ, Duffy DL, Britton WJ (2002). Evidence for the genetic control of immunoglobulin E reactivity to the allergens of Alternaria alternata. Clinical and Experimental Allergy 32: 1316-22.
  64. Sung J, Cho S-H, Cho S-I, Duffy DL, Kim J-H, Kim H, Park KS, Park SK (2002). The Korean Twin Registry - methods, current stage and interim results. Twin Research 5: 394-400.
  65. Medland SE, Wright MJ, Geffen GM, Hay DA, Levy F, Martin NG, Duffy DL (2003). Special twin environments, genetic influences and their effects on the handedness of twins and their siblings. Twin Res. 6:119-130.
  66. Sturm RA, Duffy DL, Box NF, Chen W, Smit DJ, Brown DL, Stow JL, Leonard H, Martin NG (2003). The role of Melanocortin-1 Receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 16: 266-272
  67. Sturm RA, Duffy DL, Box NF, Newton RA, Shepherd AG, Chen W, Marks LH, Leonard H, Martin NG (2003). Genetic association and cellular function of MC1R variant alleles in human pigmentation. Annals of the New York Academy of Sciences 994: 348-358.
  68. Vajdic C, Kricker A, Duffy DL, Aitken J, Stark M, Huurne JAC, Martin NG, Armstrong BK, Hayward, NK (2003). Ocular melanoma is not associated with CDKN2A or MC1R variants - a population-based study. Melanoma Research 13: 409-413.
  69. Zhu G, Duffy DL, Turner DR, Ewen KR, Montgomery GW, Martin NG (2003). Linkage and association analysis of radiation damage repair genes XRCC3 and XRCC5 with nevus density in adolescent twins. Twin Research 6: 315-321.
  70. Montgomery GW, Zhao ZZ, Morley KI, Marsh AJ, Boomsma DI, Martin NG, Duffy DL (2003). Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes. Human Reproduction 18: 2460-2464.
  71. Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA (2004). Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Human Molecular Genetics 13: 447-461.
  72. Evans DM, Duffy DL (2004). A Simulation Study Concerning the Effect of Varying the Residual Phenotypic Correlation on the Power of Bivariate Quantitative Trait Loci Linkage Analysis. Behavior Genetics 34: 135-141.
  73. Harding AJ, Das A, Kril JJ, Brooks WS, Duffy D, Halliday GM (2004). Identification of families with cortical Lewy body disease. American Journal of Medical Genetics: B: Neuropsychiatric Genetics 128B:118-122.
  74. Kedda MA, Shi J, Duffy DL, Phelps S, Yang I, O'Hara K, Fong K, Zimmerman P, Thompson PJ (2004). Characterisation of two polymorphisms in the LTC4 synthase gene in an Australian population of mild, moderate and severe asthmatics. Journal of Allergy and Clinical Immunology 113:889-95.
  75. Zhu, G, Evans, DM, Duffy, DL, Montgomery, GW, Medland, SE, Gillespie, NA, Ewen, KR, Jewell, M, Liew, YW, Hayward, NK, Sturm, RA, Trent, JM, and Martin, NG (2004). A genome scan for eye colour in 502 twin families: most variation is due to a QTL on chromosome 15q. Twin Research 7:197-210
  76. Nyholt DR, Gillespie NG, Heath AC, Merikangas KR, Duffy DL, Martin NG. Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities. Genet Epidemiol 26:231-44.
  77. Good DA, Busfield F, Fletcher BH, Lovelock PK, Duffy DL, Kesting JB, Andersen J, Shaw JT. Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. Bone 35:277-82.
  78. Eri R, Jonsson JR, Pandeya N, Purdie DM, Clouston AD, Martin N, Duffy D, Powell EE, Fawcett J, Florin TH, Radford-Smith GL (2004). CCR5-Delta32 mutation is strongly associated with primary sclerosing cholangitis. Genes Immun. 2004 Jun 24
  79. Evans DM, Zhu G, Duffy DL, Montgomery GW, Frazer IH, Martin NG (2004). Multivariate QTL linkage suggests a QTL for platelet count on chromosome 19. European Journal of Human Genetics 12:835-842.
  80. Evans DM, Zhu G, Duffy DL, Frazer IH, Montgomery GW, Martin NG (2004). A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11. Genes and Immunity 5:548-552.
  81. Evans DM, Zhu G, Duffy DL, Montgomery GW, Frazer IH, Martin NG (2004). Major quantitative trait locus for eosinophil count is located on chromosome 2q. Journal of Allergy and Clinical Immunology 114:826-830.
  82. James MR, Hayward NK, Dumenil T, Montgomery GW, Martin NG, Duffy DL (2004). EGF polymorphism and risk of melanocytic neoplasia. J Invest Dermatol 123: 760-762.
  83. Montgomery GW, Zhao ZZ, Marsh AJ, Mayne R, Treloar SA, James M, Martin NG, Boomsma DI, Duffy DL (2004). A Deletion Mutation in GDF9 in Sisters with Spontaneous DZ Twins. Twin Research 7:548-555.
  84. Shi J, Misso NL, Duffy DL, Thompson PJ, Kedda MA (2004). A functional polymorphism in the promoter region of the cyclooxygenase-2 gene is not associated with asthma and atopy in an Australian population. Clincal and Experimental Allergy. 34:1714-1718.
  85. Spurdle AB, Antoniou AC, Duffy DL, Pandeya N, Kelemen L, Chen X, Peock S, Cook MR, Smith PL, Purdie DM, Newman B, Dite GS, Apicella C, Southey MC, Giles GG, Hopper JL, kConFaB, EMBRACE Study Collaborators, ABCFS, AJBCS, Chenevix-Trench G, Easton DF (2005). The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 7: R176-R183 (2004 December 16 [Epub ahead of print]).
  86. Kedda M-A, Lose F, Duffy D, Bell E, Thompson PJ, Upham J (2005). The CD14 C-159T polymorphism is not associated with asthma or asthma severity in an Australian adult population. Thorax 60: 211-214.
  87. Akesson LS, Duffy DL, Phelps SC, Thompson PJ, Kedda M-A (2005). A polymorphism in the promoter region of the human interleukin-16 gene is not associated with asthma or atopy in an Australian population Clinical and Experimental Allergy Clinical and Experimental Allergy 35: 327-331.
  88. Kedda MA, Worsley P, Shi J, Phelps S, Duffy D, Thompson PJ (2005). Polymorphisms in the 5-lipoxygenase activating protein (ALOX5AP) gene are not associated with asthma in an Australian population. Clinical and Experimental Allergy 35(3):332-8.
  89. Wicks J, Treloar SA, Martin NG, Duffy DL (2005). New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes. Twin Research and Human Genetics 8:95­100.
  90. Thakkinstian A, McElduff P, D'Este C, Duffy D, Attia J (2005). A method for meta-analysis of molecular association studies. Statistics in Medicine 24: 1291-1306.
  91. Shi J, Misso NL, Duffy DL, Bradley B, Beard R, Thompson PJ, Kedda MA (2005). Cyclooxygenase-1 gene polymorphisms in patients with different asthma phenotypes and atopy. European Respiratory Journal 26: 249-256.
  92. Kelemen L, James M, Spurdle A, Campbell I, Chang-Claude J, Peel D, Anton-Culver H, Berchuck A, Schildkraut J, Whittemore A, McGurie V, DiCioccio RA, Duffy D, Chenevix-Trench G. BRAF polymorphisms and the risk of ovarian cancer of low malignant potential. Gynecology Oncology 97: 807-812.
  93. So A, Duffy DL, Gordon RD, Jeske YW, Lin-Su K, New MI, Stowasser M (2005). Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. Journal of Hypertension 23: 1477-1484.
  94. Lose F, Thompson PJ, Duffy DL, Stewart GA, Kedda MA (2005). A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women. Thorax 60: 623-628.
  95. Treloar SA, Zhen Zhao Z, Armitage T, Duffy DL, Wicks J, O'connor DT, Martin NG, Montgomery GW (2005). Association between polymorphisms in the progesterone receptor gene and endometriosis. Molecular Human Reproduction 11: 641-647.
  96. Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, Dawson G, Mackay IJ, Weeks DE, Bennett ST, Carey A, Ewen-White KR, Duffy DL, O'connor DT, Barlow DH, Martin NG, Kennedy SH (2005). Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. American Journal of Human Genetics 77: 365-376.
  97. Henderson J, Withford-Cave JM, Duffy DL, Cole SJ, Sawyer NA, Gulbin JP, Hahn A, Trent RJ, Yu B (2005). The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. Hum Genet 118: 416-423.
  98. Birley AJ, Whitfield JB, Neale MC, Duffy DL, Heath AC, Boomsma DI, Martin NG (2005). Genetic time-series analysis identifies a major QTL for in vivo alcohol metabolism not predicted by in vitro studies of structural protein polymorphism at the ADH1B or ADH1C loci. Behavior Genetics 35: 509-524.
  99. Medland SE, Duffy DL, Spurdle AB, Wright MJ, Geffen GM, Montgomery GW, Martin NG (2005). Opposite Effects of Androgen Receptor CAG Repeat Length on Increased Risk of Left-Handedness in Males and Females. Behavior Genetics 35: 735-744.
  100. Ferreira MAR, O'Gorman L, Le Souëf P, Burton PR, Toelle BG, Robertson CF, Visscher PM, Martin NG, Duffy DL. Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. American Journal of Human Genetics 77: 1075-1085.
  101. James MR, Roth RB, Shi MM, Kammerer S, Nelson MR, Stark MS, Dumenil T, Montgomery GW, Hayward NK, Martin NG, Braun S, Duffy DL (2005). BRAF Polymorphisms and Risk of Melanocytic Neoplasia. Journal of Investigative Dermatology 125: 1252­1258.
  102. Shekar SN, Luciano M, Duffy DL, Martin NG (2005). Genetic and environmental influences on skin pattern deterioration. J Invest Dermatol 125: 1119-1129.
  103. Cornes BK, Medland SE, Ferreira MA, Morley KI, Duffy DL, Heijmans BT, Montgomery GW, Martin NG (2005). Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families. Twin Res Hum Genet. 8: 616-632.
  104. Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung T, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J. (2005). Systematic review and meta-analysis of the association between beta2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol 162: 201-211.
  105. Luciano M, Wright MJ, Duffy DL, Wainwright MA, Zhu G, i Evans DM, Geffen GM, Montgomery GW, Martin NG (2006). Genome-wide Scan of IQ Finds Significant Linkage to a Quantitative Trait Locus on 2q. Behav Genet 36: 45-55.
  106. Hansell NK, Medland SE, Ferreira MA, Geffen GM, Zhu G, Montgomery GW, Duffy DL, Wright MJ, Martin NG (2006). Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task. Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task. Behav Genet 36: 29-44.
  107. Visscher PM, Duffy DL (2006). The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits. Genetic Epidemiology 30: 30-36.
  108. Ferreira MAR, O'Gorman L, Le Souëf P, Burton PR, Toelle BG, Robertson CF, Visscher PM, Martin NG, Duffy DL (2006). Variance components analyses of multiple asthma traits in a large sample of Australian families ascertained through a twin proband. Allergy 61:245-253.
  109. Thomsen SF, Ulrik CS, Kyvik KO, Larsen K, Skadhauge LR, Steffensen IE, Duffy DL, Backer V (2006). Risk factors for asthma in young adults: a co-twin control study Allergy 61:229-233.
  110. Duffy DL (2006). An integrated genetic map for linkage analysis. Behav Genet 36:4-6.
  111. Shekar SN, Duffy DL, Montgomery GW, Martin NG (2006). A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31. J Invest Dermatol 126: 277-282.
  112. Medland SE, Duffy DL, Wright MJ, Geffen GM, Martin NG (2006). Handedness in twins: joint analysis of data from 35 samples. Twin Res Hum Genet 9: 46-53.
  113. James MR, Dumeni T, Stark MS, Duffy DL, Montgomery GW, Martin NG, Hayward NK. Rapid Screening of 4000 Individuals for Germ-line Variations in the BRAF Gene. Clin Chem 52: 1675-1678.
  114. Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S (2006). Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. Am J Hum Genet 79: 155-162.
  115. Hansell NK, James MR, Duffy DL, Birley AJ, Luciano M, Geffen GM, Wright MJ, Montgomery GW, Martin NG (2007). Effect of the BDNF V166M polymorphism on working memory in healthy adolescents. Genes Brain Behav 6: 260-268.
  116. Ferreira MA, Visscher PM, Martin NG, Duffy DL (2006). A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits. Eur J Hum Genet 14: 953-962.
  117. Luciano M, Hine E, Wright MJ, Duffy DL, Macmillan J, Martin NG. Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 11; [Epub ahead of print]
  118. Leary CA, Duffy D, Biros I, Corley S, Seddon JM. Linkage analysis excludes the involvement of the canine PKD2 homologue in bull terrier polycystic kidney disease. Anim Genet 37: 527-528.
  119. O'Leary, C. A., Duffy, D., Biros, I., Corley, S. (2009). Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease.. Anim Genet 40: 543-546.
  120. Kedda MA, Duffy DL, Bradley B, O'Hehir RE, Thompson PJ (2006). ADAM33 haplotypes are associated with asthma in a large Australian population. Eur J Hum Genet 14: 1027-1036.
  121. Palmer JS, Zhao ZZ, Hoekstra C, Hayward NK, Webb PM, Whiteman DC, Martin NG, Boomsma DI, Duffy DL, Montgomery GW (2006). Novel variants in Growth Differentiation Factor 9 in mothers of dizygotic twins. J Clin Endocrinol Metab 91: 4713-4716.
  122. Montgomery GW, Zhu G, Hottenga JJ, Duffy DL, Heath AC, Boomsma DI, Martin NG, Visscher PM (2006). HLA and genomewide allele sharing in dizygotic twins. Am J Hum Genet. 79: 1052-1058.
  123. Zhu G, Montgomery GW, James MR, Trent JM, Hayward NK, Martin NG, Duffy DL (2007). A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions. Eur J Hum Genet. 15: 94-102.
  124. Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA (2007). A three-SNP haplotype in the first intron of OCA2 explains most human eye color variation. Am J Hum Genet. 80: 241-252.
  125. Iliadou A, Evans DM, Zhu G, Duffy DL, Frazer IH, Montgomery GW, Martin NG (2007). Genomewide scans of red cell indices suggest linkage on chromosome 6q23-24. J Med Genet 44: 24-30.
  126. Tenesa A, Navarro P, Hayes BJ, Duffy DL, Clarke GM, Goddard ME, Visscher PM (2007). Recent human effective population size estimated from linkage disequilibrium. Genome Res 17: 520-526.
  127. Johnatty SE, Spurdle AB, Beesley J, Chen X, Hopper JL, Duffy DL, Chenevix-Trench G; The Kathleen Cuningham Consortium for Research in Familial Breast Cancer (2007). Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Res Treat 2007 Jun 26 [Epub ahead of print].
  128. Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC (2007). A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry 62: 811-817.
  129. Beaumont KA, Shekar SL, Newton RA, James MR, Stow JL, Duffy DL, Sturm RA (2007). Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum Mol Genet 2007 Jul 5 [Epub ahead of print].
  130. Anderson CA, Duffy DL, Martin NG, Visscher PM (2007). Estimation of Variance Components for Age at Menarche in Twin Families. Behav Genet 37: 668-677.
  131. Whitfield JB, Dy V, McQuilty R, Zhu G, Montgomery GW, Ferreira MA, Duffy DL, Neale MC, Heijmans BT, Heath AC, Martin NG (2007). Evidence of genetic effects on blood lead concentration. Environ Health Perspect 115: 1224-1230.
  132. Samaratunga H, Yaxley J, Kerr K, McClymont K, Duffy D (2007). Significance of minute focus of adenocarcinoma on prostate needle biopsy. Urology 70: 299-302.
  133. Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 82: 424-431
  134. Condon J, Shaw JE, Luciano M, Kyvik KO, Martin NG, Duffy DL (2008). A study of diabetes mellitus within a large sample of Australian twins. Twin Res Hum Genet 11: 28-40.
  135. Duffy DL (2007). Genetic determinants of diabetes are similarly associated with other immune-mediated diseases. Curr Opin Allergy Clin Immunol 7: 468-474.
  136. Shekar SN, Duffy DL, Frudakis T, Montgomery GW, James MR, Sturm RA, Martin NG (2008). Spectrophotometric Methods for Quantifying Pigmentation in Human Hair-Influence of MC1R Genotype and Environment. Photochem Photobiol 84: 719-726.
  137. Baxter AJ, Hughes MC, Kvaskoff M, Siskind V, Shekar S, Aitken JF, Green AC, Duffy DL, Hayward NK, Martin NG, Whiteman DC (2008). The Queensland Study of Melanoma: Environmental and Genetic Associations (Q-MEGA); Study Design, Baseline Characteristics, and Repeatability of Phenotype and Sun Exposure Measures. Twin Res Hum Genet. 11: 183-196.
  138. Keith JM, McRae A, Duffy D, Mengersen K, Visscher PM (2008). Calculation of IBD probabilities with dense SNP or sequence data. Genet Epidemiol 2008 Mar 20. [Epub ahead of print]
  139. Jeske YW, So A, Kelemen L, Sukor N, Willys C, Bulmer B, Gordon RD, Duffy D, Stowasser M (2008). Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. Clin Exp Pharmacol Physiol 35: 380-385.
  140. Shekar SN, Duffy DL, Frudakis T, Sturm RA, Zhao ZZ, Montgomery GW, Martin NG (2008). Linkage and Association Analysis of Spectrophotometrically Quantified Hair Color in Australian Adolescents: the Effect of OCA2 and HERC2. J Invest Dermatol. 128: 2807-2814.
  141. Shi J, Misso NL, Kedda MA, Horn J, Welch MD, Duffy DL, Williams C, Thompson PJ (2008). Cyclooxygenase-2 gene polymorphisms in an Australian population: association of the -1195G > A promoter polymorphism with mild asthma. Clin Exp Allergy 38:913-20. Epub 2008 Apr 11.
  142. Spurdle AB, Deans AJ, Duffy D, Goldgar DE, Chen X, Beesley J; kConFaB, Easton DF, Antoniou AC, Peock S, Cook M; EMBRACE Study Collaborators, Nathanson KL, Domchek SM, Macarthur GA, Chenevix-Trench G (2008). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2008 Jun 10. [Epub ahead of print]
  143. Brown KM, MacGregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, K Henders A, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK (2008). Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet. 2008 May 18; [Epub ahead of print]
  144. Red hair is the null phenotype of MC1R (2008). Beaumont KA, Shekar SN, Cook AL, Duffy DL, Sturm RA. Hum Mutat. 2008 May 16; [Epub ahead of print]
  145. Cook AL, Chen W, Thurber AE, Smit DJ, Smith AG, Bladen TG, Brown DL, Duffy DL, Pastorino L, Bianchi-Scarra G, Leonard JH, Stow JL, Sturm RA (2009). Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. J Invest Dermatol. 129: 392-405. Epub 2008 Jul 24.
  146. Sukor N, Mulatero P, Gordon RD, So A, Duffy D, Bertello C, Kelemen L, Jeske Y, Veglio F, Stowasser M (2008). Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. J Hypertens. 26: 1577-1582.
  147. Zhao ZZ, Painter JN, Palmer JS, Webb PM, Hayward NK, Whiteman DC, Boomsma DI, Martin NG, Duffy DL, Montgomery GW (2008). Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning. Hum Reprod. 23: 2372-2379. Epub 2008 Jul 9.
  148. Oldmeadow C, Wood I, Mengersen K, Visscher PM, Martin NG, Duffy DL (2008). Investigation of the relationship between smoking and appendicitis in Australian twins. Ann Epidemiol. 18: 631-636.
  149. Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ (2008). A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 16;4(5):e1000074.
  150. Medland SE, Duffy DL, Wright MJ, Geffen GM, Hay DA, Levy F, van-Beijsterveldt CE, Willemsen G, Townsend GC, White V, Hewitt AW, Mackey DA, Bailey JM, Slutske WS, Nyholt DR, Treloar SA, Martin NG, Boomsma DI (2008). Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families. Neuropsychologia. 2008 Sep 9. [Epub ahead of print]
  151. Lose F, Duffy DL, Kay GF, Kedda MA, Spurdle AB; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Australian Ovarian Cancer Study Management Group (2008). Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1. J Natl Cancer Inst. 2008 Nov 5;100(21):1519-29. Epub 2008 Oct 28.
  152. O'Leary CA, He X, Bolton JA, Gobe G, Duffy DL (2009). Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Anim Genet. 40: 252-253.
  153. Zhao ZZ, Duffy DL, Thomas SA, Martin NG, Hayward NK, Montgomery GW (2009). Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma. Melanoma Res. 2009 Feb 9. [Epub ahead of print]
  154. Shekar SN, Duffy DL, Youl P, Baxter AJ, Kvaskoff M, Whiteman DC, Green AC, Hughes MC, Hayward NK, Coates M, Martin NG (2009). A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability. J Invest Dermatol. 2009 Apr 9. [Epub ahead of print]
  155. Oldmeadow C, Mengersen K, Martin N, Duffy DL (2009). Heritability and linkage analysis of appendicitis utilizing age at onset. Twin Res Hum Genet. 2009 Apr;12(2):150-7.
  156. Thomsen SF, Sluis SV, Stensballe LG, Posthuma D, Skytthe A, Kyvik KO, Duffy DL, Backer V, Bisgaard H (2009). Exploring The Association Between Severe Respiratory Syncytial Virus Infection and Asthma: a Registry-Based Twin Study. Am J Respir Crit Care Med. 2009 Jun 15;179(12):1091-7. Epub 2009 Mar 12.
  157. Byrne EM, McRae AF, Duffy DL, Zhao ZZ, Martin NG, Wright MJ, Montgomery GW, Visscher PM (2009). Association Study of Common Mitochondrial Variants and Cognitive Ability. Behav Genet. 2009 May 16.
  158. Barros Roque J, O'Leary CA, Kyaw-Tanner M, Latter M, Mason K, Shipstone M, Vogelnest L, Duffy DL (2009). Haplotype sharing excludes canine orthologous Filaggrin locus in atopy in West Highland White Terriers. Anim Genet. 40: 793-794.
  159. Falchi M, Bataille V, Hayward NK, Duffy DL, Newton Bishop JA, Pastinen T, Cervino A, Zhao ZZ, Deloukas P, Soranzo N, Elder DE, Barrett JE, Martin NG, Bishop DT, Montgomery GW, Spector TD (2009). Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genet 41: 915-919.
  160. Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW (2010). Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma. J Invest Dermatol. 130: 520-8.
  161. Ferreira MA, Oates NA, van Vliet J, Zhao ZZ, Ehrich M, Martin NG, Montgomery GW, Whitelaw E, Duffy DL (2009). Characterization of the methylation patterns of MS4A2 in atopic cases and controls. Allergy. 2009 Sep 1. [Epub ahead of print]
  162. Ferreira MA, Zhao ZZ, Thomsen SF, James M, Evans DM, Postmus PE, Kyvik KO, Backer V, Boomsma DI, Martin NG, Montgomery GW, Duffy DL (2009). Association and interaction analyses of eight genes under asthma linkage peaks.  Allergy 64: 1623-1628.
  163. Byrne EM, McRae AF, Duffy DL, Zhao ZZ, Martin NG, Whitfield JB, Visscher PM, Montgomery GW. Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents. Diabetologia. 2009 Sep 4. [Epub ahead of print]
  164. Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG. Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet. 2009 Nov;85(5):750-5. Epub 2009 Nov 5.
  165. Fogarty GB, Muddle R, Sprung CN, Chen W, Duffy D, Sturm RA, McKay MJ (2009). Unexpectedly Severe Acute Radiotherapy Side Effects Are Associated With Single Nucleotide Polymorphisms of the Melanocortin-1 Receptor. Int J Radiat Oncol Biol Phys. 2009 Nov 23. [Epub ahead of print]
  166. Samaratunga H, Duffy D, Yaxley J, Delahunt B (2010). Any proportion of ductal adenocarcinoma in radical prostatectomy specimens predicts extraprostatic extension. Hum Pathol 41(2):281-5
  167. Bouzigon E, Forabosco P, Koppelman GH, Cookson WO, Dizier MH, Duffy DL, Evans DM, Ferreira MA, Kere J, Laitinen T, Malerba G, Meyers DA, Moffatt M, Martin NG, Ng MY, Pignatti PF, Wjst M, Kauffmann F, Demenais F, Lewis CM (2010). Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy. Eur J Hum Genet. 2010 Jan 13. [Epub ahead of print].
  168. Painter JN, Willemsen G, Nyholt D, Hoekstra C, Duffy DL, Henders AK, Wallace L, Healey S, Cannon-Albright LA, Skolnick M, Martin NG, Boomsma DI, Montgomery GW (2010). A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins. Hum Reprod. 2010 Apr 8. [Epub ahead of print]
  169. Summers KM, Bokil NJ, Lu FT, Low JT, Baisden JM, Duffy D, Radford DJ (2010). Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing. Am J Med Genet A. 152A(3): 613-21.
  170. Liu F, Wollstein A, Hysi PG, Ankra-Badu GA, Spector TD, Park D, Zhu G, Larsson M, Duffy DL, Montgomery GW, Mackey DA, Walsh S, Lao O, Hofman A, Rivadeneira F, Vingerling JR, Uitterlinden AG, Martin NG, Hammond CJ, Kayser M (2010). Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 2010 May 6;6:e1000934.
  171. Johnatty SE, Beesley J, Chen X, Macgregor S, Duffy DL, Spurdle AB, deFazio A, Gava N, Webb PM, Rossing MA, Doherty JA, Goodman MT, Lurie G, Thompson PJ, Wilkens LR, Ness RB, Moysich KB, Chang-Claude J, Wang-Gohrke S, Cramer DW, Terry KL, Hankinson SE, Tworoger SS, Garcia-Closas M, Yang H, Lissowska J, Chanock SJ, Pharoah PD, Song H, Whitemore AS, Pearce CL, Stram DO, Wu AH, Pike MC, Gayther SA, Ramus SJ, Menon U, Gentry-Maharaj A, Anton-Culver H, Ziogas A, Hogdall E, Kjaer SK, Hogdall C, Berchuck A, Schildkraut JM, Iversen ES, Moorman PG, Phelan CM, Sellers TA, Cunningham JM, Vierkant RA, Rider DN, Goode EL, Haviv I, Chenevix-Trench G; Ovarian Cancer Association Consortium; Australian Ovarian Cancer Study Group; Australian Cancer Study (Ovarian Cancer). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". PLoS Genet. 2010 Jul 8;6(7):e1001016.
  172. Duffy DL, Iles MM, Glass D, Zhu G, Barrett JH, Höiom V, Zhao ZZ, Sturm RA, Soranzo N, Hammond C, Kvaskoff M, Whiteman DC, Mangino M, Hansson J, Newton-Bishop JA; GenoMEL, Bataille V, Hayward NK, Martin NG, Bishop DT, Spector TD, Montgomery GW. IRF4 variants have age-specific effects on nevus count and predispose to melanoma. Am J Hum Genet. 2010 Jul 9;87(1):6-16. Epub 2010 Jun 17.
  173. Thomsen SF, Duffy DL, Kyvik KO, Backer V (2010). Genetic influence on the age at onset of asthma: a twin study. J Allergy Clin Immunol. 126: 626-630.
  174. Demenais F, Mohamdi H, Chaudru V, Goldstein AM, Newton Bishop JA, Bishop DT, Kanetsky PA, Hayward NK, Gillanders E, Elder DE, Avril MF, Azizi E, van Belle P, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Carrera C, Hansson J, Harland M, Hogg D, Höiom V, Holland EA, Ingvar C, Landi MT, Lang JM, Mackie RM, Mann GJ, Ming ME, Njauw CJ, Olsson H, Palmer J, Pastorino L, Puig S, Randerson-Moor J, Stark M, Tsao H, Tucker MA, van der Velden P, Yang XR, Gruis N (2010). Melanoma Genetics Consortium. Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst 102: 1568-1583

    The participants of the Melanoma Genetics Consortium - GenoMEL - in Brisbane, Australia: The Principal Investigators of the Queensland study of Melanoma: Environmental and Genetic Associations (Q-MEGA): Nicholas G. Martin, Grant W. Montgomery, David L. Duffy, David C. Whiteman, Stuart MacGregor, Nicholas K. Hayward (Oncogenomics Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia).
  175. Thomsen SF, Duffy DL, Kyvik KO, Skytthe A, Backer V (2010). Risk of asthma in adult twins with type 2 diabetes and increased body mass index. Allergy. Epub 2010 Nov 17.
  176. Thomsen SF, Duffy DL, Kyvik KO, Skytthe A, Backer V (2010). Relationship between type 1 diabetes and atopic diseases in a twin population. Allergy. Epub 2010 Dec 1.
  177. Ferreira MA, McRae AF, Medland SE, Nyholt DR, Gordon SD, Wright MJ, Henders AK, Madden PA, Visscher PM, Wray NR, Heath AC, Montgomery GW, Duffy DL, Martin NG (2010). Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. Eur J Hum Genet. Epub 2010 Dec 8.
  178. Kvaskoff M, Whiteman DC, Zhao ZZ, Montgomery GW, Martin NG, Hayward NK, Duffy DL (2011). Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma. Twin Res Hum Genet 14: 422-432.
  179. Luong HT, Chaplin J, McRae AF, Medland SE, Willemsen G, Nyholt DR, Henders AK, Hoekstra C, Duffy DL, Martin NG, Boomsma DI, Montgomery GW, Painter JN (2011). Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning. Twin Res Hum Genet 14: 408-416.
  180. Roque JB, O'Leary CA, Kyaw-Tanner M, Latter M, Mason K, Shipstone M, Vogelnest L, Duffy D (2011). High allergen-specific serum immunoglobulin-E levels in nonatopic West Highland white terriers. Vet Dermatol. Epub 2011 Jan 26.
  181. Duffy DL, Antill YC, Stewart CJ, Young JP, kConFab, Spurdle AB (2011). Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families. Twin Res Hum Genet. 2011 14: 111-118.
  182. Ranaweera M, Samaratunga H, Duffy D, Klopfer K, Brunelli M, Martignoni G, Delahunt B (2011). Tertiary Gleason pattern 5 on needle biopsy predicts greater tumour volume on radical prostatectomy. Pathology 43:693-6.
  183. Larsson M, Duffy DL, Zhu G, Liu JZ, Macgregor S, McRae AF, Wright MJ, Sturm RA, Mackey DA, Montgomery GW, Martin NG, Medland SE (2011). GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. Am J Hum Genet 89: 334-343.
  184. Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM (2011). A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 480:99-103.
  185. Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, D\u0119bniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jönsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubi\u0144ski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT; GenoMEL Consortium (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43:1108-13.
  186. Roque JB, O'Leary CA, Duffy DL, Kyaw-Tanner M, Latter M, Mason K, Vogelnest L, Shipstone M (2011). IgE responsiveness to Dermatophagoides farinae in West Highland white terrier dogs is associated with region on CFA35. J Hered 102 Suppl 1:S74-80.
  187. Roque JB, O'Leary CA, Kyaw-Tanner M, Duffy DL, Gharahkhani P, Vogelnest L, Mason K, Shipstone M (2011). PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers. BMC Res Notes 4:571.
  188. Roque JB, O'Leary CA, Kyaw-Tanner M, Duffy DL, Shipstone M (2011). Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: a pilot study. BMC Res Notes 4:554.
  189. Gharahkhani P, O'Leary CA, Kyaw-Tanner M, Sturm RA, Duffy DL (2011). A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS One Epub 2011 Jul 27.
  190. Macgregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, Schmid H, Holland EA, Duffy DL, Zhang M, Painter JN, Nyholt DR, Maskiell JA, Jetann J, Ferguson M, Cust AE, Jenkins MA, Whiteman DC, Olsson H, Puig S, Bianchi-Scarrà G, Hansson J, Demenais F, Landi MT, D\u0119bniak T, Mackie R, Azizi E, Bressac-de Paillerets B, Goldstein AM, Kanetsky PA, Gruis NA, Elder DE, Newton-Bishop JA, Bishop DT, Iles MM, Helsing P, Amos CI, Wei Q, Wang LE, Lee JE, Qureshi AA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Han J, Hopper JL, Trent JM, Brown KM, Martin NG, Mann GJ, Hayward NK (2011). Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nat Genet 43: 1114-1118.
  191. Amos CI, Wang LE, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH; GenoMEL Investigators, MacGregor S, Hayward NK, Martin NG, Duffy DL; Q-Mega Investigators, Mann GJ, Cust A, Hopper J; AMFS Investigators, Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q (2011). Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet. 2011 Dec 15;20(24):5012-23
  192. Paternoster L, Standl M, Chen CM, Ramasamy A, Bønnelykke K, Duijts L, Ferreira MA, Alves AC, Thyssen JP, Albrecht E, Baurecht H, Feenstra B, Sleiman PM, Hysi P, Warrington NM, Curjuric I, Myhre R, Curtin JA, Groen-Blokhuis MM, Kerkhof M, Sääf A, Franke A, Ellinghaus D, Fölster-Holst R, Dermitzakis E, Montgomery SB, Prokisch H, Heim K, Hartikainen AL, Pouta A, Pekkanen J, Blakemore AI, Buxton JL, Kaakinen M, Duffy DL, Madden PA, Heath AC, Montgomery GW, Thompson PJ, Matheson MC, Le Souëf P; Australian Asthma Genetics Consortium (AAGC), Pourcain BS, Smith GD, Henderson J, Kemp JP, Timpson NJ, Deloukas P, Ring SM, Wichmann HE, Müller-Nurasyid M, Novak N, Klopp N, Rodríguez E, McArdle W, Linneberg A, Menné T, Nohr EA, Hofman A, Uitterlinden AG, van Duijn CM, Rivadeneira F, de Jongste JC, van der Valk RJ, Wjst M, Jogi R, Geller F, Boyd HA, Murray JC, Kim C, Mentch F, March M, Mangino M, Spector TD, Bataille V, Pennell CE, Holt PG, Sly P, Tiesler CM, Thiering E, Illig T, Imboden M, Nystad W, Simpson A, Hottenga JJ, Postma D, Koppelman GH, Smit HA, Söderhäll C, Chawes B, Kreiner-Møller E, Bisgaard H, Melén E, Boomsma DI, Custovic A, Jacobsson B, Probst-Hensch NM, Palmer LJ, Glass D, Hakonarson H, Melbye M, Jarvis DL, Jaddoe VW, Gieger C; The Genetics of Overweight Young Adults (GOYA) Consortium, Strachan DP, Martin NG, Jarvelin MR, Heinrich J, Evans DM; the EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Weidinger S (2011). Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet. 44:187-192.
  193. Ferreira MA, Matheson MC, Duffy DL, Marks GB, Hui J, Le Souëf P, Danoy P, Baltic S, Nyholt DR, Jenkins M, Hayden C, Willemsen G, Ang W, Kuokkanen M, Beilby J, Cheah F, de Geus EJ, Ramasamy A, Vedantam S, Salomaa V, Madden PA, Heath AC, Hopper JL, Visscher PM, Musk B, Leeder SR, Jarvelin MR, Pennell C, Boomsma DI, Hirschhorn JN, Walters H, Martin NG, James A, Jones G, Abramson MJ, Robertson CF, Dharmage SC, Brown MA, Montgomery GW, Thompson PJ; Australian Asthma Genetics Consortium (2011). Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet 378:1006-1014.
  194. Roque JB, O'Leary CA, Duffy DL, Kyaw-Tanner M, Gharahkhani P, Vogelnest L, Mason K, Shipstone M, Latter M (2012). Atopic dermatitis in West Highland white terriers is associated with a 1.3-Mb region on CFA 17. Immunogenetics 64:209-17
  195. Schoof N, Iles MM, Bishop DT, Newton-Bishop JA, Barrett JH; Genomel Consortium (Collaborators: Mann GJ, Hopper JL, Aitken JF, Armstrong BK, Giles GG, Kefford RF, Cust A, Jenkins M, Aguilera P, Badenas C, Carrera C, Cuellar F, Gabriel D, Martinez E, Gonzalez M, Iglesias P, Malvehy J, Marti-Laborda R, Mila M, Ogbah Z, Butille JA, Puig S, Alós L, Arance A, Arguís P, Campo A, Castel T, Conill C, Palou J, Rull R, Sánchez M, Vidal-Sicart S, Vilalta A, Vilella R, Martin NG, Montgomery GW, Duffy D, Whiteman D, MacGregor S, Hayward NK, Whiteman D, Webb P, Parsons P, Purdie D, Hayward N, Landi MT, Calista D, Landi G, Minghetti P, Arcangeli F, Bertazzi PA, Bianchi-Scarra G, Ghiorzo P, Pastorino L, Bruno W, Battistuzzi L, Gargiulo S, Nasti S, Gliori S, Origone P, Queirolo P, Mackie R, Lang J, Bishop JA, Affleck P, Barrett JH, Bishop DT, Harrison J, Iles MM, Randerson-Moor J, Harland M, Taylor JC, Whittaker L, Kukalizch K, Leake S, Karpavicius B, Haynes S, Mack T, Chan M, Taylor Y, Davies J, King P, Gruis NA, van Nieuwpoort FA, Out C, van der Drift C, Bergman W, Kukutsch N, Bavinck JN, Bakker B, van der Stoep N, ter Huurne J, van der Rhee H, Bekkenk M, Snels D, van Praag M, Brochez L, Gerritsen R, Crijns M, Vasen H, Olsson H, Ingvar C, Jönsson G, Borg Å, Måsbäck A, Lundgren L, Baeckenhorn K, Nielsen K, Casslén AS, Helsing P, Andresen PA, Rootwelt H, Akslen LA, Molven A, Avril MF, Bressac-de Paillerets B, Chaudru V, Chateigner N, Corda E, Jeannin P, Lesueur F, de Lichy M, Maubec E, Mohamdi H, Demenais F, Andry-Benzaquen P, Bachollet B, Bérard F, Berthet P, Boitier F, Bonadona V, Bonafé JL, Bonnetblanc JM, Cambazard F, Caron O, Caux F, Chevrant-Breton J, Chompret A, Dalle S, Demange L, Dereure O, Doré MX, Doutre MS, Dugast C, Faivre L, Grange F, Humbert P, Joly P, Kerob D, Lasset C, Leccia MT, Lenoir G, Leroux D, Levang J, Lipsker D, Mansard S, Martin L, Martin-Denavit T, Mateus C, Michel JL, Morel P, Olivier-Faivre L, Perrot JL, Robert C, Ronger-Savle S, Sassolas B, Souteyrand P, Stoppa-Lyonnet D, Thomas L, Vabres P, Wierzbicka E, Elder D, Kanetsky P, Knorr J, Ming M, Mitra N, Ruffin A, Van Belle P, Debniak T, Lubinski J, Mirecka A, Ertmanski S, Novakovic S, Hocevar M, Peric B, Cerkovnik P, Höiom V, Hansson J, Mann GJ, Kefford RF, Schmid H, Holland EA, Azizi E, Galore-Haskel G, Friedman E, Baron-Epel O, Scope A, Pavlotsky F, Yakobson E, Cohen-Manheim I, Laitman Y, Milgrom R, Shimoni I, Kozlovaa E) (2011). Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. PLoS One 6(12):e29451.
  196. Wan YI, Shrine NR, Soler Artigas M, Wain LV, Blakey JD, Moffatt MF, Bush A, Chung KF, Cookson WO, Strachan DP, Heaney L, Al-Momani BA, Mansur AH, Manney S, Thomson NC, Chaudhuri R, Brightling CE, Bafadhel M, Singapuri A, Niven R, Simpson A, Holloway JW, Howarth PH, Hui J, Musk AW, James AL; Australian Asthma Genetics Consortiumi, Brown MA, Baltic S, Ferreira MA, Thompson PJ, Tobin MD, Sayers I, Hall IP (2012). Genome-wide association study to identify genetic determinants of severe asthma. Thorax 67(9):762-8.
  197. Sturm RA, Duffy DL (2012). Human pigmentation genes under environmental selection. Genome Biol 13(9):248. [Epub ahead of print]
  198. Ebejer JL, Medland SE, van der Werf J, Gondro C, Henders AK, Lynskey M, Martin NG, Duffy DL (2012). Attention deficit hyperactivity disorder in Australian adults: prevalence, persistence, conduct problems and disadvantage. PLoS One 7(10):e47404. doi: 10.1371/journal.pone.0047404.
  199. Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Couto Alves A, Lyon HN, Ferreira MA, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, Heath AC, Janson C, Kähönen M, Khaw KT, Laitinen J, Le Souef P, Lehtimäki T; Australian Asthma Genetics Consortium collaborators, Madden PA, Marks GB, Martin NG, Matheson MC, Palmer CD, Palotie A, Pouta A, Robertson CF, Viikari J, Widen E, Wjst M, Jarvis DL, Montgomery GW, Thompson PJ, Wareham N, Eriksson J, Jousilahti P, Laitinen T, Pekkanen J, Raitakari OT, O'Connor GT, Salomaa V, Jarvelin MR, Hirschhorn JN (2012). Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA. PLoS One 7(9):e44008. doi: 10.1371/journal.pone.0044008.
  200. Keating B, Bansal AT, Walsh S, Millman J, Newman J, Kidd K, Budowle B, Eisenberg A, Donfack J, Gasparini P, Budimlija Z, Henders AK, Chandrupatla H, Duffy DL, Gordon SD, Hysi P, Liu F, Medland SE, Rubin L, Martin NG, Spector TD, Kayser M; on behalf of the International Visible Trait Genetics (VisiGen) Consortium (2012). First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med. 2012 Nov 13. [Epub ahead of print]
  201. Revez JA, Bain L, Chapman B, Powell JE, Jansen R, Duffy DL, Tung JY; AAGC Collaborators, Matheson MC, Marks GB, Hui J, Le Souëf P, Danoy P, Baltic S, Nyholt DR, Jenkins M, Hayden C, Beilby J, Cheah F, Madden PA, Heath AC, Hopper JL, Musk B, Leeder SR, Walters EH, James A, Jones G, Abramson MJ, Robertson CF, Dharmage SC, Brown MA, Thompson PJ, Penninx BW, Visscher PM, De Geus EJ, Boomsma DI, Hinds DA, Martin NG, Montgomery GW, Ferreira MA (2013). A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk. Genes Immun. 2013 Aug 15. doi: 10.1038/gene.2013.38.
  202. O'Leary C, Duffy D, Gething M, McGuckin C, Rand J (2013). Investigation of diabetes mellitus in Burmese cats as an inherited trait: a preliminary study. N Z Vet J. 2013 Aug 5. [Epub ahead of print]
  203. Bønnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M, Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, Thorleifsson G, Thorsteinsdottir U, Schramm K, Baltic S, Kreiner-Møller E, Simpson A, St Pourcain B, Coin L, Hui J, Walters EH, Tiesler CM, Duffy DL, Jones G, Ring SM, McArdle WL, Price L, Robertson CF, Pekkanen J, Tang CS, Thiering E, Montgomery GW, Hartikainen AL, Dharmage SC, Husemoen LL, Herder C, Kemp JP, Elliot P, James A, Waldenberger M, Abramson MJ, Fairfax BP, Knight JC, Gupta R, Thompson PJ, Holt P, Sly P, Hirschhorn JN, Blekic M, Weidinger S, Hakonarsson H, Stefansson K, Heinrich J, Postma DS, Custovic A, Pennell CE, Jarvelin MR, Koppelman GH, Timpson N, Ferreira MA, Bisgaard H, Henderson AJ; Australian Asthma Genetics Consortium (AAGC); EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium (2013). Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nat Genet. 45(8):902-6.
  204. Sturm RA, Fox C, McClenahan P, Jagirdar K, Ibarrola-Villava M, Banan P, Abbott NC, Ribas G, Gabrielli B, Duffy DL, Soyer HP (2013). Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients. J Invest Dermatol. 2013 Jun 17. doi: 10.1038/jid.2013.272. [Epub ahead of print]
  205. Ebejer JL, Duffy DL, van der Werf J, Wright MJ, Montgomery G, Gillespie NA, Hickie IB, Martin NG, Medland SE (2013). Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Twin Res Hum Genet. 16(2):560-74.
  206. Ebejer JL, Medland SE, van der Werf J, Lynskey M, Martin NG, Duffy DL (2016). Variation in Latent Classes of Adult Attention-Deficit Hyperactivity Disorder by Sex and Environmental Adversity. J Atten Disord. 20: 934-45.
  207. O'Leary CA, Parslow A, Malik R, Hunt GB, Hurford RI, Tisdall PL, Duffy DL (2014). The inheritance of extra-hepatic portosystemic shunts and elevated bile acid concentrations in Maltese dogs. J Small Anim Pract. 2014 Jan;55(1):14-21. doi: 10.1111/jsap.12156. Epub 2013 Dec 2.
  208. Ferreira MA, Matheson MC, Tang CS, Granell R, Ang W, Hui J, Kiefer AK, Duffy DL, Baltic S, Danoy P, Bui M, Price L, Sly PD, Eriksson N, Madden PA, Abramson MJ, Holt PG, Heath AC, Hunter M, Musk B, Robertson CF, Le Souëf P, Montgomery GW, Henderson AJ, Tung JY, Dharmage SC, Brown MA, James A, Thompson PJ, Pennell C, Martin NG, Evans DM, Hinds DA, Hopper JL; Australian Asthma Genetics Consortium Collaborators (2014). Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol. 2014 Jun;133(6):1564-71. doi: 10.1016/j.jaci.2013.10.030. Epub 2013 Dec 31.
  209. Jagirdar K, Smit DJ, Ainger SA, Lee KJ, Brown DL, Chapman B, Zhen Zhao Z, Montgomery GW, Martin NG, Stow JL, Duffy DL, Sturm RA (2014). Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. Pigment Cell Melanoma Res. 2014 Jul;27(4):552-64. doi: 10.1111/pcmr.12253. Epub 2014 May 12.
  210. van Dongen J, Jansen R, Smit D, Hottenga JJ, Mbarek H, Willemsen G, Kluft C; AAGC Collaborators, Penninx BW, Ferreira MA, Boomsma DI, de Geus EJ (2014). The contribution of the functional IL6R polymorphism rs2228145, eQTLs and other genome-wide SNPs to the heritability of plasma sIL-6R levels. Behav Genet. 2014 Jul;44(4):368-82. doi: 10.1007/s10519-014-9656-8. Epub 2014 May 3
  211. Blake T, McClenahan P, Duffy D, Schaider H, McEniery E, Soyer HP (2014) Distribution analyses of acquired melanocytic naevi on the trunk Dermatology. 2014;228(3):269-75. doi: 10.1159/000358217. Epub 2014 Mar 27
  212. Song F, Amos CI, Lee JE, Lian CG, Fang S, Liu H, MacGregor S, Iles MM, Law MH, Lindeman NI, Montgomery GW, Duffy DL, Cust AE, Jenkins MA, Whiteman DC, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Brown KM, Martin NG, Mann GJ, Bishop DT, Bishop JA; GenoMEL consortium, Kraft P, Qureshi AA, Kanetsky PA, Hayward NK, Hunter DJ, Wei Q, Han J (2014). Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis. 35:2097-101.
  213. Ferry OR, Duffy DL, Ferreira MA (2014). Early life environmental predictors of asthma age-of-onset. Immun Inflamm Dis. 2:141-51.
  214. Ebejer JL1, Medland SE, van der Werf J, J Wright M, Henders AK, Gillespie NA, Hickie IB, Martin NG, Duffy DL (2015). Contrast Effects and Sex Influence Maternal and Self-Report Dimensional Measures of Attention-Deficit Hyperactivity Disorder. Behav Genet. 45:35-50.
  215. Lønnberg AS, Skov L, Duffy DL, Skytthe A, Kyvik KO, Pedersen OB, Thomsen SF. Genetic Factors Explain Variation in the Age at Onset of Psoriasis: A Population-based Twin Study (2015). Acta Derm Venereol. 2015 Jun 15. doi: 10.2340/00015555-2171.
  216. Samaratunga H, Delahunt B, Gianduzzo T, Coughlin G, Duffy D, LeFevre I, Johannsen S, Egevad L and Yaxley J (2015). The prognostic significance of the 2014 International Society of Urological Pathology (ISUP) grading system for prostate cancer. Pathology 47: 515-519
  217. Liu F, Visser M, Duffy DL, Hysi PG, Jacobs LC, Lao O, Zhong K, Walsh S, Chaitanya L, Wollstein A, Zhu G, Montgomery GW, Henders AK, Mangino M, Glass D, Bataille V, Sturm RA, Rivadeneira F, Hofman A, van IJcken WF, Uitterlinden AG, Palstra RJ, Spector TD, Martin NG, Nijsten TE, Kayser M (2015). Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet 134(8):823-35.
  218. Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril M-F, Azizi E, Scarrà GB, Brown KM, Dubniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Ho¿evar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV, null GELC, null E-HI, null SDHSG, null Q-MEGA, Investigators QTWIN, AMFS, ATHENSMSG, Landi MT, Lang J, Lathrop GM, Lubi¿ski J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novakovi¿ S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze H-J, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles, MM (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet 47: 987-995.
  219. Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA (2015). Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nat Commun. 2015 Nov 6;6:8804.
  220. Gharahkhani P, O'Leary CA,Duffy DL and Kyaw-Tanner M (2015). Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers. Invest Ophthalmol Vis Sci 56:8288-8296.
  221. Couvy-Duchesne B, Ebejer JL, Gillespie NA, Duffy DL, Hickie IB, Thompson PM, Martin NG, de Zubicaray GI, McMahon KL, Medland SE, Wright MJ (2016). Head Motion and Inattention/Hyperactivity Share Common Genetic Influences: Implications for fMRI Studies of ADHD. PLoS One 11: e0146271
  222. Lee S, Duffy DL, McClenahan P, Lee KJ, McEniery E, Burke B, Jagirdar K, Martin NG, Sturm RA, Soyer HP, Schaider H (2016). Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: a cross-sectional study. Br J Dermatol 174: 356-363
  223. Duffy DL, McDonald SP, Hayhurst B, Panagiotopoulos S, Smith TJ, Wang XL, Wilcken DE, Duarte NL, Mathews J, Hoy WE (2016). Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. BMC Nephrol.17:183.
  224. Thompson MD, Capra V, Clunes MT, Rovati GE, Stankova J, Maj MC, Duffy DL (2016). Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies. Front Pharmacol. 2016 Dec 1;7:299.
  225. Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium, Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT (2017). Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148. Nat Commun. 8: 15034.
  226. Daley GM, Duffy DL, Pflugfelder A, Jagirdar K, Lee KJ, Yong XLH, Eigentler TK, Weide B, Smithers BM, Martin NG, Garbe C, Soyer HP, Sturm RA (2017). GSTP1 does not modify MC1R effects on melanoma risk. Exp Dermatol. 26: 730-733.
  227. Law MH, Medland SE, Zhu G, Yazar S, Viñuela A, Wallace L, Shekar SN, Duffy DL, Bataille V, Glass D, Spector TD, Wood D; MuTHER Consortium, Gordon SD, Barbour JM, Henders AK, Hewitt AW, Montgomery GW, Sturm RA, Mackey DA, Green AC, Martin NG, MacGregor S (2017). Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. J Invest Dermatol. 137: 1887-1894.
  228. McWhirter SR, Duffy DL, Lee KJ, Wimberley G, McClenahan P, Ling N, Ardigo M, Schaider H, Soyer HP, Sturm RA (2017). Classifying dermoscopic patterns of naevi in a case-control study of melanoma. PLoS One. 2017 Oct 17;12(10):e0186647.
  229. Ferreira MA, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, van Dongen J, Lu Y, Rüschendorf F, Esparza-Gordillo J, Medway CW, Mountjoy E, Burrows K, Hummel O, Grosche S, Brumpton BM, Witte JS, Hottenga JJ, Willemsen G, Zheng J, Rodríguez Novak N, Schulz H, Karrasch S, Gieger C, Strauch K, Melles RB, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jansen R, Jorgenson E, Lee YA, Boomsma DI, Almqvist C, Karlsson R, Koppelman GH, Paternoster L (2017). Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. Nat Genet. 2017 Dec;49(12):1752-1757.
  230. Li X, Lee KJ, Duffy DL, Xu D, Basude MER, Hu Y, Zhang H, Jagirdar K, Soyer HP, Dong H, Sturm RA (2017). Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study. PeerJ. 2017 Dec 20;5:e4168.
  231. Sturm RA, Duffy DL (2018). Toward the full spectrum of genes for human skin colour. Pigment Cell Melanoma Res. 2018 Feb 8. doi: 10.1111/pcmr.12691
  232. Laino AM, Berry EG, Jagirdar K, Lee KJ, Duffy DL, Soyer HP, Sturm RA. Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study. Br J Dermatol. 2018 May;178(5):1119-1127. doi: 10.1111/bjd.16323. Epub 2018 Apr 6.
  233. Hysi PG, Valdes AM, Liu F, Furlotte NA, Evans DM, Bataille V, Visconti A, Hemani G, McMahon G, Ring SM, Smith GD, Duffy DL, Zhu G, Gordon SD, Medland SE, Lin BD, Willemsen G, Jan Hottenga J, Vuckovic D, Girotto G, Gandin I, Sala C, Concas MP, Brumat M, Gasparini P, Toniolo D, Cocca M, Robino A, Yazar S, Hewitt AW, Chen Y, Zeng C, Uitterlinden AG, Ikram MA, Hamer MA, van Duijn CM, Nijsten T, Mackey DA, Falchi M, Boomsma DI, Martin NG, Hinds DA, Kayser M, Spector TD; International Visible Trait Genetics Consortium; International Visible Trait Genetics Consortium. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nat Genet. 2018 May;50(5):652-656. doi: 10.1038/s41588-018-0100-5. Epub 2018 Apr 16.
  234. Visconti A, Duffy DL, Liu F, Zhu G, Wu W, Chen Y, Hysi PG, Zeng C, Sanna M, Iles MM, Kanetsky PA, Demenais F, Hamer MA, Uitterlinden AG, Ikram MA, Nijsten T, Martin NG, Kayser M, Spector TD, Han J, Bataille V, Falchi M. Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. Nat Commun. 2018 May 8;9(1):1684. doi: 10.1038/s41467-018-04086-y.
  235. Lupton MK, Medland SE, Gordon SD, Goncalves T, MacGregor S, Mackey DA, Young TL, Duffy DL, Visscher PM, Wray NR, Nyholt DR, Bain L, Ferreira MA, Henders AK, Wallace L, Montgomery GW, Wright MJ, Martin NG. Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. J Alzheimers Dis. 2018;64(1):49-54. doi: 10.3233/JAD-171104.
  236. Liu Y, Gillespie NA, Ye L, Zhu G, Duffy DL, Martin NG. The Relationship Between Personality and Somatic and Psychological Distress: A Comparison of Chinese and Australian Adolescents. Behav Genet. 2018 Jun 5. doi: 10.1007/s10519-018-9905-3. [Epub ahead of print]
  237. Duffy DL, Zhu G, Li X, Sanna M, Iles MM, Jacobs LC, Evans DM, Yazar S, Beesley J, Law MH, Kraft P, Visconti A, Taylor JC, Lui F, Wright MJ, Henders AK,, Bowdler L, Glass D, Ikram AM, Uitterlinden AG, Madden PA, Heath AC, Nelson EC, Green AC,, Chanock S, Barrett JH, Brown MA, Hayward NK, MacGregor S, Sturm RA, Hewitt AW; Melanoma GWAS Consortium, Kayser M, Hunter DJ, Newton Bishop JA, Spector TD, Montgomery GW,, Mackey DA, Smith GD, Nijsten TE, Bishop DT, Bataille V, Falchi M, Han J, Martin NG. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nat Commun. 2018 Nov 14;9(1):4774. doi: 10.1038/s41467-018-06649-5

    Published Letters containing original/substantial results

  238. Duffy DL, Martin NG, Mathews JD (1990). Appendectomy in Australian twins [Letter]. American Journal of Human Genetics 47(3): 590-592.
  239. Duffy DL (1992). A population-based study of bronchial asthma in adult twin pairs [Letter]. Chest 102: 654-655.
  240. Duffy DL (1992). The standard error of Cohen's Kappa [Letter]. Statistics In Medicine 10:1530.
  241. Duffy DL (1993). Twin studies in medical research [Letter]. Lancet 341:1418-9.
  242. Duffy DL, Healey SC, Chenevix-Trench G, Martin NG, Weger J, Lichter J (1995). Atopy in Australia [Letter]. Nature Genetics 10:260.
  243. Wang S, Detera-Wadleigh SD, Coon H, Sun C-E, Goldin LR, Duffy DL, Byerley WF, Gershon E, Diehl SR (1996). Evidence of linkage disequilibrium between schizophrenia and the SCA1 CAG repeat on chromosome 6p23 [Letter]. American Journal of Human Genetics 59: 731-736.
  244. Healey SC, Duffy DL, Martin NG, Turner G (1997). Is Fragile X syndrome a risk factor for dizygotic twinning [Letter]? American Journal of Medical Genetics 72: 245-246.
  245. So A, Jeske YWA, Gordon RD, Duffy D, Kelemen L, Stowasser M (2006). No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II [Letter]. Clinical Endocrinology 65: 829-831.

    Other Letters

  246. Duffy DL (1997). Atopic disease and immunologic response [Letter]. Science 276: 17.
  247. Magnaval J-F, Duffy DL (1999). Genetic studies on atopy and helminthiasis [Letter]. Allergy 54: 1120-1121.

    Software development

  248. Duffy DL (1992). Mystat version 1.0. Brisbane, Australia.
  249. Duffy DL (1992). Loglin version 1.0. Brisbane, Australia.
  250. Duffy DL (1995-2011). Sib-pair version 1.00.b. Brisbane, Australia.
  251. Duffy DL (2006). gllm: Generalised log-linear model. R package version 0.31. Brisbane, Australia.
  252. Duffy DL (2005). lodplot: Plot a genome scan. R package version 1.0. Brisbane, Australia.

    Other publications

  253. Duffy DL (2001). Module 2. Understanding the disease (Part 2): How many genes are involved?. Course Notes for Genetic Epidemiology, Centre for Clinical Epidemiology and Biostatistics, The University of Newcastle, Australia.

Papers citing the use of the Sib-pair program have used a variety of forms (January 2010):

CitationNumber of times cited
Duffy DL (1995) Gconvert1
DUFFY DL (1995) SIB PAIR 0 98 8 PROG 1
DUFFY DL (1996) SIB PAIR V 0 93 1
DUFFY DL (1996) SIB PAIR V0 93 2
DUFFY DL (1996) SIB PAIR V 0 99 1
DUFFY DL (1997) Sib-pair: a program for non-parametric
linkage/association analysis.
American Journal of Human Genetics 61 (4): 1140 Suppl. S [Abstract]
DUFFY DL (1998) Gconvert 0.96.8 comp 1
DUFFY D (1999) SIB PAIR 0 98 8 COMP 1
DUFFY DL (2000) SIB PAIR REL 0 99 9 1
DUFFY DL (2000) SIB PAIR V 0 93 1
DUFFY DL (2000) Gconvert 0.99.9i 1
DUFFY DL (2001) SIB PAIR V 0 99 9 QU 1
DUFFY DL (2003) SIB PAIR VER 0 99 9 1
DUFFY DL (2004) SIB PAIR 0 99 9 PROG 1