Dr David Duffy
Honorary Principal Fellow
School of Biomedical Sciences
Book Chapters
Duffy, David L. (2017). Analysis of quantitative trait loci. Bioinformatics Volume II: structure, function, and applications. (pp. 191-203) edited by Jonathan M. Keith. New York, NY United States: Humana Press. doi: 10.1007/978-1-4939-6613-4_11
Duffy, David (2015). Genetics of eye colour. eLS. (pp. 1-9) Chichester, United Kingdom: John Wiley & Sons. doi: 10.1002/9780470015902.a0024646
Duffy, D. (2000). Genetics of asthma. Understanding Asthma. A Management Companion. (pp. 39-43) edited by Ronald S. Walls and Christine R. Jenkins. Sydney: Maclennan & Petty.
Duffy, D. (2000). The co-twin control study. Advances in Twin and Sib-pair Analysis. (pp. 53-66) edited by Tim D. Spector, Harold Snieder and Alex J. MacGregor. London: Greenwich Medical Media Ltd.
Duffy, David Lorenzo (2000). The co-twin case-control study. Advances in twin and sib-pair analysis. (pp. 53-66) edited by Timothy Spector, Harald Snieder and Alex MacGregor. Oxford, United Kingdom: Oxford University Press.
Duffy, David L. (2000). Understanding asthma. A management companion. Understanding asthma. A management companion. (pp. 5.1-5.5) edited by Ronald S. Walls and Christine R. Jenkins. Sydney, Australia: Maclennan and Petty.
Journal Articles
Sturm, Richard A., Smit, Darren J., Duffy, David L., McLean, Catriona, Scolyer, Richard A., McArthur, Grant A., Papenfuss, Anthony T., Stark, Mitchell S., Soyer, H. Peter and Mar, Victoria J. (2024). Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma. British Journal of Dermatology ljae336. doi: 10.1093/bjd/ljae336
Stark, Mitchell S., Sturm, Richard A., Pan, Yan, Smit, Darren J., Kommajosyula, Varsha, Lee, Katie J., Jagirdar, Kasturee, McLean, Catriona, Duffy, David L., Soyer, H. Peter and Mar, Victoria J. (2024). Assessing the genetic risk of nodular melanoma using a candidate gene approach. British Journal of Dermatology, 190 (2), 199-206. doi: 10.1093/bjd/ljad365
Mbarek, Hamdi, Gordon, Scott D., Duffy, David L., Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J., Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V., Actkins, Ky’Era V., Gerring, Zachary F., Van Dongen, Jenny, Ehli, Erik A., Iacono, William G., Mcgue, Matt, Chasman, Daniel I., Gallagher, C. Scott, Schilit, Samantha L. P., Morton, Cynthia C., Paré, Guillaume, Willemsen, Gonneke, Whiteman, David C., Olsen, Catherine M., Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert ... Martin, Nicholas G. (2024). Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human Reproduction, 39 (1), 240-257. doi: 10.1093/humrep/dead247
Ingold, N., Zhu, G., Duffy, D. L., Mothershaw, A., Martin, N. G., MacGregor, S. and Law, M. H. (2023). Counting nevi on the outer arm provides an accurate and feasible alternative to total body nevus count. Journal of the European Academy of Dermatology and Venereology, 37 (11), e1302-e1304. doi: 10.1111/jdv.19279
Wallingford, Courtney K., Demeshko, Anastassia, Krishnakripa, Asha Krishnankutty, Smit, Darren J., Duffy, David L., Betz-Stablein, Brigid, Pflugfelder, Annette, Jagirdar, Kasturee, Holland, Elizabeth, Mann, Graham J., Primiero, Clare A., Yanes, Tatiane, Malvehy, Josep, Badenas, Cèlia, Carrera, Cristina, Aguilera, Paula, Olsen, Catherine M., Ward, Sarah V., Haass, Nikolas K., Sturm, Richard A., Puig, Susanna, Whiteman, David C., Law, Matthew H., Cust, Anne E., Potrony, Miriam, Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). The MC1R r allele does not increase melanoma risk in MITF E318K carriers. British Journal of Dermatology, 188 (6), 770-776. doi: 10.1093/bjd/ljad041
Duffy, David L. and Martin, Nicholas G. (2022). The heritability of twinning in seven large historic pedigrees. Twin Research and Human Genetics, 25 (2), 1-4. doi: 10.1017/thg.2022.14
Pflugfelder, Annette, Yong, Xuan Ling Hilary, Jagirdar, Kasturee, Eigentler, Thomas K., Soyer, H. Peter, Sturm, Richard A., Flatz, Lukas and Duffy, David L. (2022). Genome-wide association study suggests the variant rs7551288*A within the DHCR24 gene is associated with poor overall survival in melanoma patients. Cancers, 14 (10) 2410, 2410. doi: 10.3390/cancers14102410
Ingold, Nathan, Dusingize, Jean Claude, Neale, Rachel E., Olsen, Catherine M., Whiteman, David C., Duffy, David L., MacGregor, Stuart and Law, Matthew H. (2022). Examining evidence for a causal association between telomere length and nevus count. Journal of Investigative Dermatology, 142 (5), 1502-1505.e6. doi: 10.1016/j.jid.2021.09.021
Oungsakul, Patharee, Perez-Guaita, David, Shah, Alok K., Duffy, David, Wood, Bayden R., Bielefeldt-Ohmann, Helle and Hill, Michelle M. (2021). Addressing delicate and variable cancer morphology in spectral histopathology using canine visceral hemangiosarcoma. Analytical Chemistry, 93 (36), 12187-12194. doi: 10.1021/acs.analchem.0c05190
Simcoe, Mark, Valdes, Ana, Liu, Fan, Furlotte, Nicholas A., Evans, David M., Hemani, Gibran, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Vuckovic, Dragana, Girotto, Giorgia, Sala, Cinzia, Catamo, Eulalia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex, Wu, Wenting, Kraft, Peter, Hammond, Christopher J., Shi, Yuan, Chen, Yan ... the International Visible Trait Genetics Consortium (2021). Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. Science Advances, 7 (11) abd1239, eabd1239. doi: 10.1126/sciadv.abd1239
Oungsakul, Patharee, Choi, Eunju, Shah, Alok K., Mohamed, Ahmed, O’Leary, Caroline, Duffy, David, Hill, Michelle M. and Bielefeldt-Ohmann, Helle (2021). Candidate glycoprotein biomarkers for canine visceral hemangiosarcoma and validation using semi-quantitative lectin/immunohistochemical assays. Veterinary Sciences, 8 (3) 38, 1-18. doi: 10.3390/vetsci8030038
McMeniman, E. K., McInerney-Leo, A. M., Peach, E., Lee, K. J., Yanes, T., Jagirdar, K., Stark, M. S., Soyer, H. P., Duffy, D. L. and Sturm, R. A. (2020). CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk. Journal of the European Academy of Dermatology and Venereology, 34 (12) jdv.16627, e797-e798. doi: 10.1111/jdv.16627
Mangantig, Ernest, MacGregor, Stuart, Iles, Mark M., Scolyer, Richard A., Cust, Anne E., Hayward, Nicholas K., Montgomery, Grant W., Duffy, David L., Thompson, John F., Henders, Anjali, Bowdler, Lisa, Rowe, Casey, Cadby, Gemma, Mann, Graham J., Whiteman, David C., Long, Georgina V., Ward, Sarah V., Khosrotehrani, Kiarash, Barrett, Jennifer H. and Law, Matthew H. (2020). Germline variants are associated with increased primary melanoma tumor thickness at diagnosis. Human Molecular Genetics, 29 (21), 3578-3587. doi: 10.1093/hmg/ddaa222
Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali ... Medland, Sarah E. (2020). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5 (1), 59-70. doi: 10.1038/s41562-020-00956-y
Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter and Sturm, Richard A. (2020). Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants. PLoS ONE, 15 (9) e0238529, e0238529. doi: 10.1371/journal.pone.0238529
Law, Matthew H., Aoude, Lauren G., Duffy, David L., Long, Georgina V., Johansson, Peter A., Pritchard, Antonia L., Khosrotehrani, Kiarash, Mann, Graham J., Montgomery, Grant W., Iles, Mark M., Cust, Anne E., Palmer, Jane M., Melanoma GWAS Consortium, Shannon, Kerwin F., Spillane, Andrew J., Stretch, Jonathan R., Thompson, John F., Saw, Robyn P. M., Scolyer, Richard A., Martin, Nicholas G., Hayward, Nicholas K. and MacGregor, Stuart (2020). Multiplex melanoma families are enriched for polygenic risk. Human Molecular Genetics, 29 (17), 2976-2985. doi: 10.1093/hmg/ddaa156
Landi, Maria Teresa, GenoMEL Consortium, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew ... MelaNostrum Consortium (2020). Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics, 52 (5), 494-504. doi: 10.1038/s41588-020-0611-8
Duffy, David, Sturm, Rick, Zhu, Gu and MacGregor, Stuart (2020). Gene discovery using twins. Twin Research and Human Genetics, 23 (2), 90-93. doi: 10.1017/thg.2020.38
Duffy, David L., Jagirdar, Kasturee, Lee, Katie J., McWhirter, Seamus R., McMeniman, Erin K., De’Ambrosis, Brian, Pflugfelder, Annette, Rayner, Jenna E., Whiteman, David C., Brown, Matthew A., Martin, N.G., Smithers, B.M., Schaider, Helmut, Soyer, H. Peter and Sturm, Richard A. (2020). Genes determining nevus count and dermoscopic appearance in Australian melanoma cases and controls. Journal of Investigative Dermatology, 140 (2), 498-501.e17. doi: 10.1016/j.jid.2019.05.032
Dube, Umber, Ibanez, Laura, Budde, John P., Benitez, Bruno A., Davis, Albert A., Harari, Oscar, Iles, Mark M., Law, Matthew H., Brown, Kevin M., Cruchaga, Carlos, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah ... Iles, M. M. (2019). Overlapping genetic architecture between Parkinson disease and melanoma. Acta Neuropathologica, 139 (2), 347-364. doi: 10.1007/s00401-019-02110-z
Morales, Eva and Duffy, David (2019). Genetics and gene-environment interactions in childhood and adult onset asthma. Frontiers in Pediatrics, 7. doi: 10.3389/fped.2019.00499
McMeniman, E. K., Duffy, D. L., Jagirdar, K., Lee, K. J., Peach, E., McInerney-Leo, A. M., De'Ambrosis, B., Rayner, J. E., Smithers, B. M., Soyer, H. P. and Sturm, R. A. (2019). The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology, 183 (2) bjd.18777, 357-366. doi: 10.1111/bjd.18777
Duffy, D. L., Lee, K. J., Jagirdar, K., Pflugfelder, A., Stark, M. S., McMeniman, E. K., Soyer, H. P. and Sturm, R. A. (2019). Naevus count and MC1R R alleles contribute to melanoma risk. British Journal of Dermatology, 181 (5), e119-e119. doi: 10.1111/bjd.18487
Duffy, David L, Siminovitch, Katherine A, Zamel, Ricardo, Chapman, Kenneth R, Martin, Nicholas G and Zamel, Noe (2019). Variation at DENND1B and Asthma on the Island of Tristan da Cunha. Twin research and human genetics : the official journal of the International Society for Twin Studies, 22 (5), 1-6. doi: 10.1017/thg.2019.82
Rayner, Jenna E., McMeniman, Erin K., Duffy, David L., De'Ambrosis, Brian, Smithers, B Mark, Jagirdar, Kasturee, Lee, Katie J., Soyer, H Peter and Sturm, Richard A. (2019). IRF4 rs12203592*T/T genotype is associated with nodular melanoma. Melanoma Research, 29 (4), 445-446. doi: 10.1097/CMR.0000000000000596
Peng, Fuduan, Zhu, Gu, Hysi, Pirro G., Eller, Ryan J., Chen, Yan, Li, Yi, Hamer, Merel A., Zeng, Changqing, Hopkins, Racquel L., Jacobus, Case L., Wallace, Paige L., Uitterlinden, André G., Ikram, M. Arfan, Nijsten, Tamar, Duffy, David L., Medland, Sarah E., Spector, Timothy D., Walsh, Susan, Martin, Nicholas G., Liu, Fan and Kayser, Manfred (2019). Genome-Wide Association Studies Identify Multiple Genetic Loci Influencing Eyebrow Color Variation in Europeans. Journal of Investigative Dermatology, 139 (7), 1601-1605. doi: 10.1016/j.jid.2018.12.029
Rayner, J. E., McMeniman, E. K., Duffy, D. L., De'Ambrosis, B., Smithers, B. M., Jagirdar, K., Lee, K. J., Soyer, H. P. and Sturm, R. A. (2019). Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology, 33 (6) jdv.15446, 1076-1083. doi: 10.1111/jdv.15446
Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan ... Spector, Timothy D. (2019). Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 51 (7), 1190-1190. doi: 10.1038/s41588-019-0446-3
Good, David A., Duffy, David L., Good, Manuela, Xia Guo, Cheng, Busfield, Frances, Shaw, Anthony and Shaw, Joanne T. E. (2019). Noncoding variations in the gene encoding ceramide synthase 6 are associated with type 2 diabetes in a large Indigenous Australian pedigree. Twin Research and Human Genetics, 22 (2), 79-87. doi: 10.1017/thg.2019.13
Duffy, D. L., Lee, K. J., Jagirdar, K., Pflugfelder, A., Stark, M. S., McMeniman, E. K., Soyer, H. P. and Sturm, R. A. (2019). High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk. British Journal of Dermatology, 181 (5) bjd.17833, 1009-1016. doi: 10.1111/bjd.17833
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2019). Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 10 (1) 299, 299. doi: 10.1038/s41467-018-08078-w
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2018). Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 9 (1) 4774, 4774. doi: 10.1038/s41467-018-06649-5
Zhang, Tongwu, Choi, Jiyeon, Kovacs, Michael A., Shi, Jianxin, Xu, Mai, Melanoma Meta-Analysis Consortium, Goldstein, Alisa M., Trower, Adam J., Bishop, D. Timothy, Iles, Mark M., Duffy, David L., MacGregor, Stuart, Amundadottir, Laufey T., Law, Matthew H., Loftus, Stacie K., Pavan, William J., Brown, Kevin M., Barnabas, Beatrice B., Bouffard, Gerard G., Brooks, Shelis Y., Coleman, Holly, Dekhtyar, Lyudmila, Guan, Xiaobin, Han, Joel, Ho, Shi-Ling, Legaspi, Richelle, Maduro, Quino L., Masiello, Catherine A., McDowell, Jennifer C. ... NISC Comparative Sequencing Program (2018). Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. Genome Research, 28 (11), 1621-1635. doi: 10.1101/gr.233304.117
Koh, Uyen, Janda, Monika, Aitken, Joanne F., Duffy, David L., Menzies, Scott, Sturm, Richard A., Schaider, Helmut, Betz-Stablein, Brigid, Prow, Tarl, Soyer, H. Peter and Green, Adele C. (2018). ‘Mind your Moles’ study: protocol of a prospective cohort study of melanocytic naevi. BMJ Open, 8 (9) e025857, e025857. doi: 10.1136/bmjopen-2018-025857
Liu, Yangyang, Gillespie, Nathan A., Ye, Lin, Zhu, Gu, Duffy, David L. and Martin, Nicholas G. (2018). The relationship between personality and somatic and psychological distress: a comparison of Chinese and Australian adolescents. Behavior Genetics, 48 (4), 315-322. doi: 10.1007/s10519-018-9905-3
Visconti, Alessia, Duffy, David L., Liu, Fan, Zhu, Gu, Wu, Wenting, Chen, Yan, Hysi, Pirro G., Zeng, Changqing, Sanna, Marianna, Iles, Mark M., Kanetsky, Peter A., Demenais, Florence, Hamer, Merel A., Uitterlinden, Andre G., Ikram, M. Arfan, Nijsten, Tamar, Martin, Nicholas G., Kayser, Manfred, Spector, Tim D., Han, Jiali, Bataille, Veronique and Falchi, Mario (2018). Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. Nature Communications, 9 (1) 1684. doi: 10.1038/s41467-018-04086-y
Laino, A. M., Berry, E. G., Jagirdar, K., Lee, K. J., Duffy, D. L., Soyer, H. P. and Sturm, R. A. (2018). Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study. British Journal of Dermatology, 178 (5), 1119-1127. doi: 10.1111/bjd.16323
Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan ... Spector, Timothy D. (2018). Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 50 (5), 652-656. doi: 10.1038/s41588-018-0100-5
Sturm, Richard A. and Duffy, David L. (2018). Towards the full spectrum of genes for human skin colour. Pigment Cell and Melanoma Research, 31 (4), 457-458. doi: 10.1111/pcmr.12691
Lupton, Michelle K., Medland, Sarah E., Gordon, Scott D., Goncalves, Tabatha, MacGregor, Stuart, Mackey, David A., Young, Terri L., Duffy, David L., Visscher, Peter M., Wray, Naomi R., Nyholt, Dale R., Bain, Lisa, Ferreira, Manuel A., Henders, Anjali K., Wallace, Leanne, Montgomery, Grant W., Wright, Margaret J. and Martin, Nicholas G. (2018). Accuracy of inferred APOE genotypes for a range of genotyping arrays and imputation reference panels. Journal of Alzheimer's Disease, 64 (1), 49-54. doi: 10.3233/JAD-171104
Li, Xiaohong, Lee, Katie J., Duffy, David L., Xu, Dandan, Rao Basude, Madhur Eshwar, Hu, Ying, Zhang, Hang, Jagirdar, Kasturee, Soyer, H. Peter, Dong, Huiting and Sturm, Richard A. (2017). Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: A cross-sectional study. PeerJ, 5 (12) e4168, e4168. doi: 10.7717/peerj.4168
McWhirter, Seamus R, Duffy, David L, Lee, Katie J, Wimberley, Glen, McClenahan, Philip, Ling, Natalie, Ardigo, Marco, Schaider, Helmut, Soyer, H Peter and Sturm, Richard A (2017). Classifying dermoscopic patterns of naevi in a case-control study of melanoma. PloS One, 12 (10) e0186647, 1-10. doi: 10.1371/journal.pone.0186647
Law, Matthew H., Medland, Sarah E., Zhu, Gu, Yazar, Seyhan, Vinuela, Ana, Wallace, Leanne, Shekar, Sri Niranjan, Duffy, David L., Bataille, Veronique, Glass, Dan, Spector, Tim D., Wood, Diane, MuTHER Consortium, Gordon, Scott D., Barbour, Julie M., Henders, Anjali K., Hewitt, Alex W., Montgomery, Grant W., Sturm, Richard A., Mackey, David A., Green, Adele C., Martin, Nicholas G. and MacGregor, Stuart (2017). Genome-Wide Association shows that pigmentation genes play a role in skin aging. Journal of Investigative Dermatology, 137 (9), 1887-1894. doi: 10.1016/j.jid.2017.04.026
Fang, Jun, Jia, Jinping, Makowski, Matthew, Xu, Mai, Wang, Zhaoming, Zhang, Tongwu, Hoskins, Jason W., Choi, Jiyeon, Han, Younghun, Zhang, Mingfeng, Thomas, Janelle, Kovacs, Michael, Collins, Irene, Dzyadyk, Marta, Thompson, Abbey, O'Neill, Maura, Das, Sudipto, Lan, Qi, Koster, Roelof, Stolzenberg-Solomon, Rachael S., Kraft, Peter, Wolpin, Brian M., Jansen, Pascal W.T.C., Olson, Sara, McGlynn, Katherine A., Kanetsky, Peter A., Chatterjee, Nilanjan, Barrett, Jennifer H., Dunning, Alison M. ... Yang, Xiaohong R. (2017). Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148. Nature Communications, 8 (1) 15034, 15034. doi: 10.1038/ncomms15034
Daley, G. M., Duffy, D. L., Pflugfelder, A., Jagirdar, K., Lee, K. J., Yong, X. L., Eigentler, T. K., Weide, B., Smithers, B. M., Martin, N. G., Garbe, C., Soyer, H. P. and Sturm, R. A. (2017). GSTP1 does not modify MC1R effects on melanoma risk. Experimental Dermatology, 26 (8), 730-733. doi: 10.1111/exd.13114
Thompson, Miles D., Capra, Valerie, Clunes, Mark T., Rovati, G. E., Stankova, Jana, Maj, Mary C. and Duffy, David L. (2016). Cysteinyl leukotrienes pathway genes, atopic asthma and drug response: from population isolates to large genome-wide association studies. Frontiers in Pharmacology, 7 (DEC) 299, 299. doi: 10.3389/fphar.2016.00299
Duffy, David L., McDonald, Stephen P., Hayhurst, Beverley, Panagiotopoulos, Sianna, Smith, Trudy J., Wang, Xing L., Wilcken, David E., Duarte, Natalia L., Mathews, John and Hoy, Wendy E. (2016). Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. BMC Nephrology, 17 (183) 183, 1-10. doi: 10.1186/s12882-016-0396-2
Ebejer, Jane L., Medland, Sarah E., van der Werf, Julius, Lynskey, Michael, Martin, Nicholas G. and Duffy, David L. (2016). Variation in latent classes of adult attention–deficit hyperactivity disorder by sex and environmental adversity. Journal of Attention Disorders, 20 (11), 934-945. doi: 10.1177/1087054713506261
Lee, S., Duffy, D.L., Mcclenahan, P., Lee, K. J., McEniery, E., Burke, B., Jagirdar, K., Martin, N.G., Sturm, R.A., Soyer, H.P. and Schaider, H. (2016). Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: A cross-sectional study. British Journal of Dermatology, 174 (2), 356-363. doi: 10.1111/bjd.14291
Couvy-Duchesne, Baptiste, Ebejer, Jane L., Gillespie, Nathan A., Duffy, David L., Hickie, Ian B., Thompson, Paul M., Martin, Nicholas G., de Zubicaray, Greig I., McMahon, Katie L., Medland, Sarah E. and Wright, Margaret J. (2016). Head motion and inattention/hyperactivity share common genetic influences: Implications for fMRI studies of ADHD. PLoS One, 11 (1) e0146271, 1-19. doi: 10.1371/journal.pone.0146271
Lønnberg, Ann Sophie, Skov, Lone, Duffy, David Lorenzo, Skytthe, Axel, Kyvik, Kirsten Ohm, Pedersen, Ole Birger and Thomsen, Simon Francis (2016). Genetic factors explain variation in the age at onset of psoriasis: a population-based twin study. Acta dermato-venereologica, 96 (1), 35-8. doi: 10.2340/00015555-2171
Gharahkhani, Puya, O' Leary, Caroline A., Duffy, David L. and Kyaw-Tanner, Myat (2015). Potential modifying loci associated with primary lens luxation, pedal hyperkeratosis, and ocular phenotypes in miniature bull terriers. Investigative Ophthalmology and Visual Science, 56 (13), 8288-8296. doi: 10.1167/iovs.15-18074
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Gharahkhani, Puya, O’Leary, Caroline A., Kyaw-Tanner, Myat, Sturm, Richard A. and Duffy, David L. (2011). A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. Plos One, 6 (7) e22455, Article number e22455. doi: 10.1371/journal.pone.0022455
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Ranaweera, Matheesha, Samaratunga, Hemamali, Duffy, David, Klopfer, Kiara, Brunelli, Matteo, Martignoni, Guido and Delahunt, Brett (2011). Tertiary Gleason pattern 5 on needle biopsy predicts greater tumour volume on radical prostatectomy. Pathology, 43 (7), 693-696. doi: 10.1097/PAT.0b013e32834ba487
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Samaratunga, Hemamali, Duffy, David, Yaxley, John and Delahunt, Brett (2010). Any proportion of ductal adenocarcinoma in radical prostatectomy specimens predicts extraprostatic extension. Human Pathology, 41 (2), 281-285. doi: 10.1016/j.humpath.2009.08.010
Bouzigon, Emmanuelle, Forabosco, Paola, Koppelman, Gerard H., Cookson, William O. C. M., Dizier, Marie-Helene, Duffy, David L., Evans, David M., Ferreira, Manuel A. R., Kere, Juha, Laitinen, Tarja, Malerba, Giovanni, Meyers, Deborah A., Moffatt, Miriam, Martin, Nicholas G, Ng, Mandy Y., Pignatti, Pier Franco, Wjst, Mathias, Kauffmann, Francine, Demenais, Florence and Lewis, Cathryn M. (2010). Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy. European Journal of Human Genetics, 18 (6), 700-706. doi: 10.1038/ejhg.2009.224
Medland, S, Nyholt, D, Painter, JN, McEnvoy, BP, Allan McRae, Zhu, G, Gordon, SD, Ferreira, MAR, Wright, MJ, Henders, AK, Campbell MJ, Duffy, D, Hansell, N K, Macgregor, S, Slutske, WS, Heath, AC, Montgomery, GW and Martin, NG (2009). Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans. American Journal of Human Genetics, 85 (5), 750-755. doi: 10.1016/j.ajhg.2009.10.009
Ferreira, M. A. R., Zhao, Z. Z., Thomsen, S. F., James, M., Evans, D. M., Postmus, P. E., Kyvik, K. O., Backer, V., Boomsma, D. I., Martin, N. G., Montgomery, G. W. and Duffy, D. L. (2009). Association and interaction analyses of eight genes under asthma linkage peaks. Allergy, 64 (11), 1623-1628. doi: 10.1111/j.1398-9995.2009.02091.x
Roque, J.B., O'Leary, C.A., Kyaw-Tanner, M., Latter, M., Mason, K., Shipstone, M., Vogelnest, L. and Duffy, D.L. (2009). Haplotype sharing excludes canine orthologous Filaggrin locus in atopy in West Highland White Terriers. Animal Genetics, 40 (5), 793-794. doi: 10.1111/j.1365-2052.2009.01915.x
E. M. Byrne, A. F. McRae, D. L. Duffy, Z. Z. Zhao, N. G. Martin, J. B. Whitfield, P. M. Visscher and G. W. Montgomery (2009). Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents. Diabetologia, 52 (11), 2359-2368. doi: 10.1007/s00125-009-1510-9
Byrne, EM, McRae, AF, Duffy, DL, Zhao, ZZ, Martin, NG, Wright, MJ, Montgomery, GW and Visscher, PM (2009). Association Study of Common Mitochondrial Variants and Cognitive Ability. BEHAVIOR GENETICS, 39 (5), 504-512. doi: 10.1007/s10519-009-9276-x
Shekar, SN, Duffy, DL, Youl, P, Baxter, AJ, Kvaskoff, M, Whiteman, DC, Green, AC, Hughes, MC, Hayward, NK, Coates, M and Martin, NG (2009). A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability. Journal of Investigative Dermatology, 129 (9), 2211-2219. doi: 10.1038/jid.2009.48
O'Leary, C. A., Duffy, D., Biros, I. and Corley, S. (2009). Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. Animal Genetics, 40 (4), 543-546. doi: 10.1111/j.1365-2052.2009.01863.x
Falchi, M, Bataille, V, Hayward, NK, Duffy, DL, Bishop, JAN, Pastinen, T, Cervino, A, Zhao, ZZ, Deloukas, P, Soranzo, N, Elder, DE, Barrett, JH, Martin, NG, Bishop, DT, Montgomery, GW and Spector, TD (2009). Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics, 41 (8), 915-919. doi: 10.1038/ng.410
Thomsen, Simon Francia, van der Sluis, Sophie, Stensballe, Lone G, Posthuma, Danielle, Skytthe, Axel, Kyvik, Kirsten O, Duffy, David L, Backer, Vibeke and Bisgaard, Hans (2009). Exploring the association between severe respiratory syncytial virus infection and asthma: A registry-based twin study. American Journal of Respiratory and Critical Care Medicine, 179 (12), 1091-1097. doi: 10.1164/rccm.200809-1471OC
Spurdle, Amanda B., Deans, AJ, Duffy, David and Georgia Chenevix-Trench (2009). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 115 (2), 307-313. doi: 10.1007/s10549-008-0083-5
Christopher Oldmeadow, Kerrie Mengersen, Nicholas Martin and David L. Duffy (2009). Heritability and Linkage Analysis of Appendicitis Utilizing Age at Onset. Twin Research and Human Genetics, 12 (2), 150-157. doi: 10.1375/twin.12.2.150
Zhao, ZZ, Duffy, DL, Thomas, SA, Martin, NG, Hayward, NK and Montgomery, GW (2009). Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma. Melanoma Research, 19 (2), 80-85. doi: 10.1097/CMR.0b013e328322fc45
O'Leary, C. A., He, X., Bolton, J. A., Gobe, G and Duffy, D (2009). Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Animal Genetics, 40 (2), 252-253. doi: 10.1111/j.1365-2052.2008.01829.x
Cook, Anthony L., Chen, Wei, Thurber, Amy E., Smit, Darren J., Smith, Aaron G., Bladen, Timothy G., Brown, Darren L., Duffy, David L., Pastorino, Lorenza, Bianchi-Scarra, Giovanna, Leonard, J. Helen, Stow, Jennifer L. and Sturm, Richard A. (2009). Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. Journal of Investigative Dermatology, 129 (2), 392-405. doi: 10.1038/jid.2008.211
Medland, Sarah E., Duffy, David L., Wright, Margaret J., Geffen, Gina M., Hay, David A., Levy, Florence, Van-Beijsterveldt, Catherina E.M., Willemsen, Gonneke, Townsend, Grant C., White, Vicki, Hewitt, Alex W., Mackey, David A., Bailey, J. Michael, Slutske, Wendy S., Nyholt, Dale R., Treloar, Susan A., Martin, Nicholas G. and Boomsma, Dorret I. (2009). Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families. Neuropsychologia, 47 (2), 330-337. doi: 10.1016/j.neuropsychologia.2008.09.005
Lose, Felicity, Duffy, David L., Kay, Graham F., Cuningham, Kathleen, Kedda, Mary A. and Spurdle, Amanda B. (2008). Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1. Journal of the National Cancer Institute, 100 (21), 1519-1529. doi: 10.1093/jnci/djn345
Zhao, Zhen Zhen, Painter, Jodie N., Palmer, James S., Webb, Penelope M., Hayward, Nicholas K., Whiteman, David C., Boomsma, Dorret I., Martin, Nicholas G., Duffy, David L. and Montgomery, Grant W. (2008). Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning. Human Reproduction, 23 (10), 2372-2379. doi: 10.1093/humrep/den268
Keith, Jonathan M., McRae, Allan, Duffy, David, Mengersen, Kerrie and Visscher, Peter M. (2008). Calculation of IBD probabilities with dense SNP or sequence data. Genetic Epidemiology, 32 (6), 513-519. doi: 10.1002/gepi.20324
Oldmeadow, Chris, Wood, Ian, Mengersen, Kerrie, Visscher, Peter M., Martin, Nicholas G. and Duffy, David L. (2008). Investigation of the relationship between smoking and appendicitis in Australian twins. Annals of Epidemiology, 18 (8), 631-636. doi: 10.1016/j.annepidem.2008.04.004
Sukor, Norlela, Mulatero, Paolo, Gordon, Richard D., So, Albertina, Duffy, David, Bertello, Chiara, Kelemen, Livia, Jeske, Yvette, Veglio, Franco and Stowasser, Michael (2008). Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. Journal of Hypertension, 26 (8), 1577-1582. doi: 10.1097/HJH.0b013e3283028352
Beaumont, Kimberley A., Shekar, Sri N., Cook, Anthony L., Duffy, David L. and Sturm, Richard A. (2008). Red hair is the null phenotype of MC1R. Human Mutation, 29 (8), E88-E94. doi: 10.1002/humu.20788
Shi, J., Misso, N. L., Kedda, M.-A., Horn, J., Welch, M. D., Duffy, D. L., Williams, C. and Thompson, P. J. (2008). Cyclooxygenase-2 gene polymorphisms in an Australian population: association of the −1195G>A promoter polymorphism with mild asthma. Clinical & Experimental Allergy, 38 (6), 913-920. doi: 10.1111/j.1365-2222.2008.02986.x
Shekar, Sri N., Duffy, David L., Frudakis, Tony, Montgomery, Grant W., James, Michael R., Sturm, Richard A. and Martin, Nicholas G. (2008). Spectrophotometric methods for quantifying pigmentation in human hair - influence of MC1R genotype and environment. Photochemistry and Photobiology, 84 (3), 719-726. doi: 10.1111/j.1751-1097.2007.00237.x
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S.E., Hu, F.B., Duffy, D., Zhao, Z.Z., Martin, N. G., Montgomery, G., Hayward, N., Thomas, G., Hoover, R.N., Chanock, S. and Hunter, D.J. (2008). A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Plos Genetics, 4 (5) e1000074, e1000074. doi: 10.1371/journal.pgen.1000074
Johnatty, Sharon E., Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Hopper, John L., Duffy, David L. and Chenevix-Trench, Georgia (2008). Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Research and Treatment, 109 (1), 91-99. doi: 10.1007/s10549-007-9627-3
Shekar, Sri N., Duffy, David L., Frudakis, Tony, Sturm, Richard A., Zhao, Zhen Z., Montgomery, Grant W. and Martin, Nicholas G. (2008). Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: The effects of OCA2 and HERC2. Journal of Investigative Dermatology, 128 (12), 2807-2814. doi: 10.1038/jid.2008.147
Sturm, Richard A., Duffy, David L., Zhao, Zhen Zhen, Leite, Fabio P.N., Stark, Mitchell S., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour. The American Journal of Human Genetics, 82 (2), 424-431. doi: 10.1016/j.ajhg.2007.11.005
Condon, Julianne, Shaw, Joanne E., Luciano, Michelle, Kyvik, Kirsten O., Martin, Nicholas G. and Duffy, David L. (2008). A study of diabetes mellitus within a large sample of Australian twins. Twin Research and Human Genetics, 11 (1), 28-40. doi: 10.1375/twin.11.1.28
Baxter, A.J., Hughes, M.C., Kvaskoff, M, Siskind, V., Shekar, S., Aitken, J. F., Green, A. C., Duffy, D., Hayward, N., Martin, N. G. and Whiteman, D. C. (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 Research and Human Genetics, 11 (2), 183-196. doi: 10.1375/twin.11.2.183
Duffy, David L. (2007). Genetic determinants of diabetes are similarly associated with other immune-mediated diseases. Current Opinion in Allergy and Clinical Immunology, 7 (6), 468-474. doi: 10.1097/ACI.0b013e3282f1dc99
Beaumont, Kimberley A., Shekar, Sri N., Newton, Richard A., James, Michael R., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2007). Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles (vol 16, pg 2249, 2007). Human Molecular Genetics, 16 (23), 2988-2988. doi: 10.1093/hmg/ddm268
Visscher, Peter M. and Duffy, David L. (2007). The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits (vol 30, pg 30, 2006). Genetic Epidemiology, 31 (7), 801-801. doi: 10.1002/gepi.20268
Luciano, Michelle, Lind, Penelope A., Duffy, David L., Castles, Anne, Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G. and Bates, Timothy C. (2007). A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biological Psychiatry, 62 (7), 811-817. doi: 10.1016/j.biopsych.2007.03.007
Anderson, Carl A., Duffy, David L., Martin, Nicholas G. and Visscher, Peter M. (2007). Estimation of variance components for age at menarche in twin families. Behavior Genetics, 37 (5), 668-677. doi: 10.1007/s10519-007-9163-2
Samaratunga, Hemamali, Yaxley, John, Kerr, Kris, McClymont, Kelly and Duffy, David (2007). Significance of minute focus of adenocarcinoma on prostate needle biopsy. Urology, 70 (2), 299-302. doi: 10.1016/j.urology.2007.03.068
Beaumont, Kimberley A., Shekar, Sri L., Newton, Richard A., James, Michael R., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2007). Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Human Molecular Genetics, 16 (18), 2249-2260. doi: 10.1093/hmg/ddm177
Whitfield, John B., Dy, Veronica, McQuilty, Robert, Zhu, Gu, Montgomery, Grant W., Ferreira, Manuel A. R., Duffy, David L., Neale, Michael C., Heijmans, Bas T., Heath, Andrew C. and Martin, Nicholas G. (2007). Evidence of genetic effects on blood lead concentration. Environmental Health Perspectives, 115 (8), 1224-1230. doi: 10.1289/ehp.8847
Hansell, N. K., James, M. R., Duffy, D. L., Birley, A. J., Luciano, M., Geffen, G. M., Wright, M. J., Montgomery, G. W. and Martin, N. G. (2007). Effect of the BDNF V166M polymorphism on working memory in healthy adolescents. Genes, Brain and Behavior, 6 (3), 260-268. doi: 10.1111/j.1601-183X.2006.00254.x
Luciano, M, Hine, E., Wright, M. J., Duffy, D. L., MacMillan, J. and Martins, N. G. (2007). Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 144B (1), 95-100. doi: 10.1002/ajmg.b.30413
Zhu, Gu, Montgomery, Grant W., James, Michael R., Trent, Jeff M., Hayward, Nicholas K., Martin, Nicholas G. and Duffy, David L. (2007). A genome-wide scan for naevus count: Linkage to CDKN2A and to other chromosome regions. European Journal of Human Genetics, 15 (1), 94-102. doi: 10.1038/sj.ejhg.5201729
Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2007). A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80 (2), 241-252. doi: 10.1086/510885
Iliadou, A., Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2007). Genomewide scans of red cell indices suggest linkage on chromosome 6q23. Journal of Medical Genetics, 44 (1), 24-30. doi: 10.1136/jmg.2006.043521
Tenesa, Albert, Navarro, Pau, Hayes, Ben J., Duffy, David L., Clarke, Geraldine M., Goddard, Mike E. and Visscher, Peter M. (2007). Recent human effective population size estimated from linkage disequilibrium. Genome Research, 17 (4), 520-526. doi: 10.1101/gr.6023607
So, Albertina, Jeske, Yvette W.A., Gordon, Richard D., Duffy, David, Kelemen, Livia and Stowasser, Michael (2006). No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. Clinical Endocrinology, 65 (6), 829-831. doi: 10.1111/j.1365-2265.2006.02674.x
O'Leary, C. A., Duffy, D., Biros, I., Corley, S. and Seddon, J. M. (2006). Linkage analysis excludes the involvement of the canine PKD2 homologue in bull terrier polycystic kidney disease. Animal genetics, 37 (5), 527-528. doi: 10.1111/j.1365-2052.2006.01517.x
Ferreira, Manuel A. R., Visscher, Peter M., Martin, Nicholas G. and Duffy, David L. (2006). A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits. European Journal of Human Genetics, 14 (8), 953-962. doi: 10.1038/sj.ejhg.5201646
Oates, N. A., van Vliet, J., Duffy, D. L., Kroes, H. Y., Martin, N. G., Boomsma, D. I., Campbell, M., Coulthard, M. G., Whitelaw, E. and Chong, S. (2006). Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly. American Journal of Human Genetics, 79 (1), 155-162. doi: 10.1086/505031
Kedda, Mary-Anne, Duffy, David L., Bradley, Bernadette, O’Hehir, Robyn E. and Thompson, Philip J. (2006). ADAM33 haplotypes are associated with asthma in a large Australian population. European Journal of Human Genetics, 14 (9), 1027-1036. doi: 10.1038/sj.ejhg.5201662
Cornes, B. K., Medland, S. E., Ferreira, M. A.R., Morley, K. I., Duffy, D. L., Heijmans, B. T., Montgomery, G. W. and Martin, N. G. (2006). Erratum: A sex-limited genome scan for body mass index in an unselected sample (Twin Research and Human Genetics (2005) 8, 6 (616-632)). Twin Research and Human Genetics, 9 (3) doi: 10.1375/twin.9.3.ii
Medland, Sarah E., Duffy, David L., Wright, Margaret J., Geffen, Gina M. and Martin, Nicholas G. (2006). Handedness in twins: Joint analysis of data from 35 samples. Twin Research and Human Genetics, 9 (1), 46-53. doi: 10.1375/183242706776402885
Thomsen, S. F., Ulrik, C. S., Kyvik, K. O., Larsen, K., Skadhauge, L. R., Steffensen, I. E., Duffy, D. L. and Backer, V. (2006). Risk factors for asthma in young adults: A co-twin control study. Allergy, 61 (2), 229-233. doi: 10.1111/j.1398-9995.2006.01004.x
James, Michael R., Dumeni, Troy, Stark, Mitchell S., Duffy, David L., Montgomery, Grant W., Martin, Nicholas G. and Hayward, Nicholas K. (2006). Rapid screening of 4000 individuals for germ-line variations in the BRAF gene. Clinical Chemistry, 52 (9), 1675-1678. doi: 10.1373/clinchem.2006.070169
Montgomery, Grant W., Zhu, Gu, Hottenga, Jouke J., Duffy, David L., Heath, Andrew C., Boomsma, Dorret I., Martin, Nicholas G. and Visscher, Peter M. (2006). HLA and Genomewide Allele Sharing in Dizygotic Twins. American Journal of Human Genetics, 79 (6), 1052-1058. doi: 10.1086/510136
Palmer, J. S., Zhao, Z. Z., Hoekstra, C., Hayward, N. K., Webb, P. M., Whiteman, D. C., Martin, N. G., Boomsma, D. I., Duffy, D. L. and Montgomery, G. W. (2006). Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Journal of Clinical Endocrinology And Metabolism, 91 (11), 4713-4716. doi: 10.1210/jc.2006-0970
Luciano, M., Wright, M. J., Duffy, D. L., Wainwright, M. A., Zhu, G., Evans, D. M., Geffen, G. M., Montgomery, G. W. and Martin, N. G. (2006). Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q. Behavior Genetics, 36 (1), 45-55. doi: 10.1007/s10519-005-9003-1
Shekar, Sri Niranjan, Duffy, David L., Montgomery, Grant W. and Martin, Nicholas G. (2006). A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31. Journal of Investigative Dermatology, 126 (2), 277-282. doi: 10.1038/sj.jid.5700067
Ferreira, M. A. R., OGorman, L., Souef, P. L., Burton, P. R., Toelle, B. G., Robertson, C. F., Martin, N. G. and Duffy, D. L. (2006). Variance components analyses of multiple asthma traits in a large sample of Australian families ascertained through a twin proband. Allergy, 61 (2), 245-253. doi: 10.1111/j.1398-9995.2005.00954.x
Visscher, PM and Duffy, DL (2006). The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits. Genetic Epidemiology, 30 (1), 30-36. doi: 10.1002/gepi.20124
Duffy, David L. (2006). An integrated genetic map for linkage analysis. Behavior Genetics, 36 (1), 4-6. doi: 10.1007/s10519-005-9015-x
Hansell, N. K., Medland, S. E., Ferreira, A. R., Geffen, G. M., Zhu, G., Montgomery, G. W., Duffy, D. L., Wright, M.J. and Martin, N. G. (2006). Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task. Behavior Genetics, 36 (1), 29-44. doi: 10.1007/s10519-005-9002-2
James, Michael R., Roth, Richard B., Shi, Michael M., Kammerer, Stefan, Nelson, Matthew R., Stark, Mitchell S., Dumenil, Troy, Montgomery, Grant W., Hayward, Nicholas K., Martin, Nicholas G., Braun, Andreas and Duffy, David L. (2005). BRAF Polymorphisms and Risk of Melanocytic Neoplasia. Journal of Investigative Dermatology, 125 (6), 1252-1258. doi: 10.1111/j.0022-202X.2005.23937.x
Shekar, Sri Niranjan, Luciano, Michelle, Duffy, David L. and Martin, Nicholas G. (2005). Genetic and environmental influences on skin pattern deterioration. Journal of Investigative Dermatology, 125 (6), 1119-1129. doi: 10.1111/j.0022-202X.2005.23961.x
Cornes, BK, Medland, SE, Ferreira, MAR, Morley, KI, Duffy, DL, Heijmans, BT, Montgomery, GW and Martin, NG (2005). Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families. Twin Research and Human Genetics, 8 (6), 616-632. doi: 10.1375/183242705774860240
Ferreira, MAR, O'Gorman, L, Le Souef, P, Burton, PR, Toelle, BG, Robertson, CF, Visscher, PM, Martin, NG and Duffy, DL (2005). 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 (6), 1075-1085. doi: 10.1086/497997
Medland, Sarah E., Duffy, David L., Spurdle, Amanda B., Wright, Margaret J., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2005). Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females. Behavior Genetics, 35 (6), 735-744. doi: 10.1007/s10519-005-6187-3
So, A, Duffy, DL, Gordon, RD, Jeske, YWA, Lin-Su, K, New, MI and Stowasser, M (2005). Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. Journal of Hypertension, 23 (8), 1477-1484. doi: 10.1097/01.hjh.0000174299.66369.26
Lose, F., Thompson, P. J., Duffy, D., Stewart, G. A. and Kedda, M. -A. (2005). A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women. Thorax, 60 (8), 623-628. doi: 10.1136/thx.2004.026930
Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, Thompson, John, Hall, Ian, Kaufman, Joel, Leung, Ting-Fan, Helms, Peter Joseph, Hakonarson, Hakon, Halpi, Eva, Navon, Ruth and Attia, John (2005). Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. American Journal of Epidemiology, 162 (3), 201-211. doi: 10.1093/aje/kwi184
Kelemen, Livia, James, Michael, Spurdle, Amanda, Campbell, Ian, Chang-Claude, Jenny, Peel, David, Anton-Culver, Hoda, Berchuck, Andrew, Schildkraut, Joellen, Whittemore, Alice, McGurie, Valerie, DiCioccio, Richard A., Duffy, David and Chenevix-Trench, Georgia (2005). BRAF polymorphisms and the risk of ovarian cancer of low malignant potential. Gynecologic Oncology, 97 (3), 807-812. doi: 10.1016/j.ygyno.2005.03.007
Thakkinstian, Ammarin, McElduff, Patrick, D'Este, Catherine, Duffy, David and Attia, John (2005). A method for meta-analysis of molecular association studies. Statistics in Medicine, 24 (9), 1291-306. doi: 10.1002/sim.2010
Wicks, Jacqueline, Treloar, Susan A., Martin, Nicholas G and Duffy, David L. (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 (2), 95-100. doi: 10.1375/1832427053738737
Kedda, M-A., Lose, F., Duffy, D., Bell, E., Thompson, P. J. and Upham, J. (2005). The CD14 C-159T polymorphism is not associated with asthma or asthma severity in an Australian adult population. Thorax, 60 (3), 211-214. doi: 10.1136/thx.2004.028449
Kedda, M.-A., Worsley, P., Shi, J., Phelps, S., Duffy, D. and Thompson, P. J. (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), 332-338. doi: 10.1111/j.1365-2222.2005.02188.x
Akesson, L. S., Duffy, D. L., Phelps, S. C., Thompson, P. J. and 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, 35 (3), 327-331. doi: 10.1111/j.1365-2222.2005.02189.x
Treloar, Susan A., Zhao, Zhen Zhen, Armitage, Trudi, Duffy, David L., Wicks, Jacqueline, O'Connor, Daniel T., Martin, Nicholas G. and Montgomery, Grant W. (2005). Association between polymorphisms in the progesterone receptor gene and endometriosis. Molecular Human Reproduction, 11 (9), 641-647. doi: 10.1093/molehr/gah221
Treloar, Susan A., Wicks, Jacqueline, Nyholt, Dale R., Montgomery, Grant W., Bahlo, Melanie, Smith, Vicki, Dawson, Gary, Mackay, Ian J., Weeks, Daniel E., Bennett, Simon T., Carey, Alisoun, Ewen-White, Kelly R., Duffy, David L., O'Connor, Daniel T., Barlow, David H., Martin, Nicholas G. and Kennedy, Stephen H. (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 (3), 365-376. doi: 10.1086/432960
Birley, A. J., Whitfield, J. B., Neale, M. C., Duffy, D. L., Heath, A. C., Boomsma, D. I. and Martin, N. G. (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 (5), 509-524. doi: 10.1007/s10519-005-3851-6
Spurdle, Amanda B., Antoniou, Antonis C., Duffy, David L., Pandeya, Nirmala, Kelemen, Livia, Chen, Xiaoqing, Peock, Susan, Cook, Margaret R., Smith, Paula L., Purdie, David M., Newman, Beth, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Giles, Graham G., Hopper, John L., kConFaB, EMBRACE Study Collaborators, ABCFS, AJBCS, Chenevix-Trench, Georgia and Easton, Douglas F. (2005). The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research, 7 (2) R176, R176-R183. doi: 10.1186/bcr971
Shi, J., Misso, N. L., Duffy, D. L., Thompson, P. J. and Kedda, M.-A. (2004). A functional polymorphism in the promoter region of the cyclooxygenase-2 gene is not associated with asthma and atopy in an Australian population. Clinical and Experimental Allergy, 34 (11), 1714-1718. doi: 10.1111/j.1365-2222.2004.02094.x
Evans, DM, Zhu, G, Duffy, DL, Montgomery, GW, Frazer, IH and Martin, NG (2004). Major quantitative trait locus for eosinophil count is located on chromosome 2q. Journal of Allergy And Clinical Immunology, 114 (4), 826-830. doi: 10.1016/j.jaci.2004.05.060
Evans, David M. and Duffy, David L. (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 (2), 135-141. doi: 10.1023/B:BEGE.0000013727.15845.f8
Eri, R, Jonsson, JR, Pandeya, N, Purdie, DM, Clouston, AD, Martin, N, Duffy, D, Powell, EE, Fawcett, J, Florin, THJ and Radford-Smith, GL (2004). CCR5-Delta 32 mutation is strongly associated with primary sclerosing cholangitis. Genes And Immunity, 5 (6), 444-450. doi: 10.1038/sj.gene.6364113
Montgomery, G. W., Zhao, Z. Z., Marsh, A. J., Mayne, R., Treloar, S. A., James, M., Martin, N. G., Boomsma, D. I. and Duffy, D. L. (2004). A deletion mutation in GDF9 in sisters with spontaneous DZ twins. Twin Research, 7 (6), 548-555. doi: 10.1375/1369052042663823
Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M. and Martin, N. G. (2004). A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Research, 7 (2), 197-210. doi: 10.1375/136905204323016186
Kedda, MA, Shi, J, Duffy, D, Phelps, S, Yang, I, O'Hara, K, Fong, K and Thompson, PJ (2004). Characterization of two polymorphisms in the leukotriene C4 synthase gene in an Australian population of subjects with mild, moderate, and severe asthma. Journal of Allergy & Clinical Immunology, 113 (5), 889-895. doi: 10.1016/j.jaci.2004.02.008
Duffy, D. L., Box, N. F., Chen, W., Palmer, J. S., Montgomery, G. W., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2004). Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Human Molecular Genetics, 13 (4), 447-461. doi: 10.1093/hmg/ddh043
Nyholt, Dale R., Gillespie, Nathan G., Heath, Andrew C., Merikangas, Kathleen R., Duffy, David L. and Martin, Nicholas G. (2004). Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities. Genetic Epidemiology, 26 (3), 231-244. doi: 10.1002/gepi.10311
Evans, D. M., Zhu, G., Duffy, D. L., Montgomery, G. W., Frazer, IH and Martin, NG (2004). Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q. European Journal of Human Genetics, 12 (10), 835-842. doi: 10.1038/sj.ejhg.5201248
Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2004). A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11. Genes and Immunity, 5 (7), 548-552. doi: 10.1038/sj.gene.6364126
James, Michael R., Hayward, Nicholas K., Dumenil, Troy, Montgomery, Grant W., Martin, Nicholas G. and Duffy, David L. (2004). Epidermal Growth Factor Gene (EGF) Polymorphism and Risk of Melanocytic Neoplasiay. Journal of Investigative Dermatology, 123 (4), 760-762. doi: 10.1111/j.0022-202X.2004.23305.x
Good, David A., Busfield, Frances, Fletcher, Barbara H., Lovelock, Paul K., Duffy, David L., Kesting, Janine B., Andersen, John and Shaw, Joanne T. E. (2004). Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. Bone, 35 (1), 277-282. doi: 10.1016/j.bone.2004.01.010
Vajdic, C, Kricker, A, Duffy, DL, Aitken, JF, Stark, M, ter Huurne, JAC, Martin, NG, Armstrong, BK and Hayward, NK (2003). Ocular melanoma is not associated with CDKN2A or MC1R variants - a population-based study. Melanoma Research, 13 (4), 409-413. doi: 10.1097/01.cmr.0000056244.56735.28
Sturm, R. A., Duffy, D. L., Box, N. F., Chen, W., Smit, D. J., Brown, D. L., Stow, J. L., Leonard, J. H. and Martin, N. G. (2003). The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Research, 16 (3), 266-272. doi: 10.1034/j.1600-0749.2003.00041.x
Medland, S. E., Wright, M. J., Geffen, G. M., Hay, D. A., Levy, F., Martin, N. G. and Duffy, D. L. (2003). Special twin environments, genetic influences and their effects on the handedness of twins and their siblings. Twin Research, 6 (2), 119-130. doi: 10.1375/136905203321536245
Zhu, Gu, Duffy, David L., Turner, David R., Ewen, Kelly R., Montgomery, Grant W. and Martin, Nicholas G. (2003). Linkage and Association Analysis of Radiation Damage Repair Genes XRCC3 and XRCC5 with Nevus Density in Adolescent Twins. Twin Research, 6 (4), 315-321. doi: 10.1375/136905203322296683
Montgomery, Grant W., Zhao, Zhen Zehn, Morley, Katherine I., Marsh, Anna J., Boomsma, Dorret I., Martin, Nicholas G. and Duffy, David L. (2003). Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes. Human Reproduction, 18 (11), 2460-2464. doi: 10.1093/humrep/deg441
Sung, Joohon, Cho, Soo-Hun, Cho, Sung-Il, Duffy, David L., Kim, Jin-Hee, Kim, Ho, Park, Kyung Sook and Park, Sue Kyung (2002). The Korean Twin Registry - methods, current stage, and interim results. Twin Research, 5 (5), 394-400. doi: 10.1375/136905202320906165
Karihaloo, C., Tovey, E.R., Mitakakis, T.Z., Duffy, D.L. and Britton, W.J. (2002). Evidence for the genetic control of immunoglobulin E reactivity to the allergens of Alternaria alternata. Clinical And Experimental Allergy, 32 (9), 1316-1322. doi: 10.1046/j.1365-2745.2002.01447.x
Barbara H. Fletcher, David Good, David L. Duffy, Frances Busfield, Janine B. Kesting, Joanne Shaw and John Andersen (2002). Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23. American Journal of Human Genetics, 70 (2), 517-525.
Busfield, Frances, Duffy, David L., Kesting, Janine B., Walker, Shelley M., Lovelock, Paul K., Good, David, Tate, Heather, Watego, Denise, Marczak, Maureen, Hayman, Noel and Shaw, Joanne T. E. (2002). A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians. American Journal of Human Genetics, 70 (2), 349-357. doi: 10.1086/338626
Good, David A., Busfield, Frances, Fletcher, Barbara H., Duffy, David L., Kesting, Janine B., Andersen, John and Shaw, Joanne T. E. (2002). Linkage of Paget disease of bone to a novel region on human chromosome 18q23. American Journal of Human Genetics, 70 (2), 517-525. doi: 10.1086/338658
Duffy, D. L. (2001). Applying statistical approaches in the dissection of genes versus environment for asthma and allergic disease. Current Opinion in Allergy and Clinical Immunology, 1 (5), 431-434.
Whitfield, J. B., Zhu, Gu, Duffy, D. L., Birley, A. J., Madden, P. A. F., Heath, A. C. and Martin, N. G. (2001). Variation in Alcohol Pharmacokinetics as a Risk Factor for Alcohol Dependence. Alcoholism-clinical And Experimental Research, 25 (9), 1257-1263. doi: 10.1111/j.1530-0277.2001.tb02345.x
Duffy, David L., Montgomery, Grant W., Hall, Jeff, Mayne, Carol, Healey, Sue C., Brown, Joy, Boomsma, Dorret I. and Martin, Nicholas G. (2001). Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB. American Journal of Medical Genetics Part A, 100 (3), 182-186. doi: 10.1002/ajmg.1255
Montgomery, Grant W., Duffy, David L., Hall, Jeff, Kudo, Masataka, Martin, Nicholas G. and Hsueh, Aaron J. (2001). Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning. Lancet, 357 (9258), 773-774. doi: 10.1016/S0140-6736(00)04164-7
Kirk, K. M., Blomberg, S. P., Duffy, D. L., Heath, A. C., Owens, I. P. and Martin, N. G. (2001). Natural selection and quantitative genetics of life-history traits in Western women: A twin study. Evolution, 55 (2), 423-435. doi: 10.1554/0014-3820(2001)055[0423:NSAQGO]2.0.CO;2
Kirk, Katherine M., Blomberg, Simon P., Duffy, David L., Heath, Andrew C., Owens, Ian P. and Martin, Nick G. (2001). Natural selection and quantitative genetics of life-history traits in Western women: a twin study. Evolution, 55 (2), 423-435. doi: 10.1111/j.0014-3820.2001.tb01304.x
Box, N. F., Duffy, D. L., Chen, W., Stark, M., Martin, N. G., Sturm, R. A. and Hayward, N. K. (2001). MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. American Journal of Human Genetics, 69 (4), 765-773. doi: 10.1086/323412
Good, David, FRANCES BUSFIELD, Duffy, David, PAUL K. LOVELOCK, JANINE B. KESTING, DONALD P. CAMERON and Shaw, Joanne (2001). Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree. Journal of Bone and Mineral Research, 16 (1), 33-38. doi: 10.1359/jbmr.2001.16.1.33
Duffy, D. L. (2001). Applying statistical approaches in the dissection of genes versus environment for asthma and allergic disease. Current Opinion in Allergy & Clinical Immunology, 1 (5), 431-434.
Duffy, D. L. and Martin, N. G. (2001). Increasing the response rate to a mailed questionnaire by including more stamps on the return envelope: A cotwin control study. Twin Research, 4 (2), 71-72. doi: 10.1375/twin.4.2.71
Duffy, David, Montgomery, Grant, Treloar, Susan, Birley, Andrew, Kirk, Katherine, Boomsma, Dorret, Beem, Leo, de Geus, Eco, Slagboom, Eline, Knighton, Joharna, Reed, Peter and Martin, Nicholas (2001). IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers. Nature Genetics, 28 (4), 315-315. doi: 10.1038/91074
Good, D, Busfield, F, Duffy, D, Lovelock, PK, Kesting, JB, Cameron, DP and Shaw, JTE (2001). Familial Paget's disease of bone: Nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. Journal of Bone And Mineral Research, 16 (1), 33-38. doi: 10.1359/jbmr.2001.16.1.33
Box, N. F., Duffy, D. L., Irving, R. E., Russell, A., Chen, W., Griffiths, L. R., Parsons, P. G., Green, A. C. and Sturm, R. A. (2001). Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. Journal of Investigative Dermatology, 116 (2), 224-229. doi: 10.1046/j.1523-1747.2001.01224.x
Montgomery, Grant W., Duffy, David L., Hall, Jeff, Haddon, Barbara R., Kudo, Masataka, McGee, Elizabeth A., Palmer, James S., Hsueh, Aaron J., Boomsma, Dorrett I. and Martin, Nicholas G. (2000). Dizygotic Twinning Is Not Linked to Variation at the {alpha}-Inhibin Locus on Human Chromosome 2. Journal of Clinical Endocrinology & Metabolism, 85 (9), 3391-3395. doi: 10.1210/jc.85.9.3391
Do, K. A., Broom, B. M., Kuhnert, P., Duffy, D. L., Todorov, A. A., Treloar, S. A. and Martin, N. G. (2000). Genetic analysis of the age at menopause by using estimating equations and Bayesian random effects models. Statistics in Medicine, 19 (9), 1217-1235. doi: 10.1002/(SICI)1097-0258(20000515)19:9<1217::AID-SIM421>3.3.CO;2-H
Whitfield, J. B., Cullen, L. M., Jazwinska, E. C., Powell, L. W., Heath, A. C., Zhu, Gu, Duffy, D. L. and Martin, N. G. (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 (4), 1246-1258. doi: 10.1086/302862
Palmer, JS, Duffy, DL, Box, NF, Aitken, JF, O'Gorman, LE, Green, AC, Hayward, NK, Martin, NG and Sturm, RA (2000). Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?. American Journal of Human Genetics, 66 (1), 176-186. doi: 10.1086/302711
Magnaval, J.-F. and Duffy, D. (1999). Genetic studies on atopy and helminthiasis. Allergy, 54 (10), 1120-1121. doi: 10.1034/j.1398-9995.1999.00382.x
Zhu, G, Duffy, DL, Eldridge, A, Grace, M, Mayne, C, O'Gorman, L, Aitken, JF, Neale, MC, Hayward, NK, Green, AC and 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 (2), 483-492. doi: 10.1086/302494
Barnes, Kathleen C., Freidhoff, Linda R., Nickel, Renate, Chiu, Yen-Feng, Juo, Suh-Hang, Hizawa, Nobuyuki, Naidu, Raana P., Ehrlich, Eva, Duffy, David L. and Schou, Carsten (1999). Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy. Journal of Allergy and Clinical Immunology, 104 (2), 485-491. doi: 10.1016/s0091-6749(99)70398-2
Juo, S.H.H., Beaty, T.H., Duffy, D.L., Coresh, J. and Kwiterovich, P.O. (1999). No common major gene for apolipoprotein A-I and HDL3-C levels: Evidence from bivariate segregation analysis. Genetic Epidemiology, 16 (1), 54-68. doi: 10.1002/(sici)1098-2272(1999)16:1<54::aid-gepi5>3.0.co;2-s
Aitken, J., Welch, J., Duffy, D., Milligan, A., Green, A., Martin, N. G. and Hayward, N. (1999). CDKN2A variants in a population-based sample of Queensland families with melanoma. Journal of the National Cancer Institute, 91 (5), 446-452. doi: 10.1093/jnci/91.5.446
Dabrowska, D. M., Duffy, D. L. and Zhang, Z. D. (1999). Hazard and density estimation from bivariate censored data. Journal of Nonparametric Statistics, 10 (1), 67-93.
Shaw, JTE, Lovelock, PK, Kesting, JB, Cardinal, J, Duffy, D, Wainwright, B and Cameron, DP (1998). Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q. Diabetes, 47 (11), 1793-1796. doi: 10.2337/diabetes.47.11.1793
Hizawa, Nobuyuki, Freidhoff, Linda R., Chiu b, Yen-Feng, Ehrlich, Eva, Luehr, Craig A., Andersonc, Jennifer L., Duffy, David L., Dunston, Georgia M., Weber, James L., Huang, Shau-Ku, Barnes, Kathleen C., Marsh, David G. and Beaty, Terri H. (1998). Genetic regulation of Dermatophagoides pteronyssinus–specific IgE responsiveness: A genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs. Journal of Allergy and Clinical Immunology, 102 (3), 436-442. doi: 10.1016/s0091-6749(98)70132-0
Hizawa, Nobuyuki, Freidhoff, Linda R., Ehrlich, Eva, Chiu b, Yen-Feng, Duffy, David L., Schou, Carsten, Dunston, Georgia M., Beaty, Terri H., Marsh, David G., Barnes, Kathleen C. and Huang, Shau-Ku (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 (3), 449-453. doi: 10.1016/s0091-6749(98)70134-4
Hizawa, Nobuyuki, Collins, Gary, Rafnar, Thorunn, Huang, Shau-Ku, Duffy, David L., Weber, James L., Freidhoff, Linda R., Ehrlich, Eva, Marsh, David G., Beaty, Terri H. and Barnes, Kathleen C. (1998). Linkage analysis of Dermatophagoides pteronyssinus–specific IgE responsiveness with polymorphic markers on chromosome 6p21 (HLA-D region) in Caucasian families by the transmission/disequilibrium test. Journal of Allergy and Clinical Immunology, 102 (3), 443-448. doi: 10.1016/s0091-6749(98)70133-2
Duffy, David L., Battistutta, Diana, Mathews, John D. and Martin, Nicholas G. (1998). A factor analysis of associations among self-reported immune related symptoms in a large twin sample. Twin Research, 1 (2), 71-77. doi: 10.1375/136905298320566375
Tovey, Euan R., Sluyter, Ronald, Duffy, David L. and Britton, Warwick J. (1998). Allergens, IgE, mediators, inflammatory mechanisms: Immunoblotting analysis of twin sera provides evidence for limited genetic control of specific IgE to house dust mite allergens. Journal of Allergy and Clinical Immunology, 101 (4), 491-497. doi: 10.1016/s0091-6749(98)70356-2
Duffy, DL, Mitchell, CA and Martin, NG (1998). Genetic and environmental risk factors for asthma - A cotwin-control study. American Journal of Respiratory and Critical Care Medicine, 157 (3), 840-845. doi: 10.1164/ajrccm.157.3.9702070
Duffy, David L., Mitchell, Charles A. and Martin, Nicholas G. (1998). Genetic and environmental risk factors for asthma : A Cotwin-control study. American Journal of Respiratory and Critical Care Medicine, 157 (3), 840-845. doi: 10.1164/ajrccm.157.3.9702070
Bellamy, N., Duffy, D. L., Sambrook, P., Buchanan, R. R., Brooks, P. M., Dunckley, H., Healey, S. C., Mason, S. and Martin, N. G. (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 (1), 81-9. doi: 10.1007/s10787-998-0009-1
Maestri, Nancy E., Beaty, Terri H., Hetmanski, Jacqueline, Smith, E. Anne, McIntosh, Iain, Wyszynski, Diego F., Liang, Kung-Yee, Duffy, David L. and VanderKolk, Craig (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 (3), 337-344. doi: 10.1002/(sici)1096-8628(19971219)73:3<337::aid-ajmg21>3.0.co;2-j
Nickel, Renate, Wahn, Ulrich, Hizawa, Nobuyuki, Maestri, Nancy, Duffy, David L., Barnes, Kathleen C., Beyer, Kirsten, Forster, Johannes, Bergmann, Renate, Zepp, Fred, Wahn, Volker and Marsh, David G. (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 (1), 159-162. doi: 10.1006/geno.1997.5013
Healey, S. C., Duffy, D. L., Martin, N. G. and Turner, G. (1997). Is fragile X syndrome a risk factor for dizygotic twinning?. American Journal of Medical Genetics, 72 (2), 245-246. doi: 10.1002/(sici)1096-8628(19971017)72:2<245::aid-ajmg24>3.0.co;2-m