The University of Queensland

Analysis of quantitative trait loci

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

Genetics of eye colour

Duffy, David (2015). Genetics of eye colour. eLS. (pp. 1-9) Chichester, United Kingdom: John Wiley & Sons. doi: 10.1002/9780470015902.a0024646

Genetics of asthma

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.

The co-twin case-control study

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.

The co-twin control study

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.

Understanding asthma. A management companion

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.

Assessing the genetic risk of nodular melanoma using a candidate gene approach

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

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

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 (2023). 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

Counting nevi on the outer arm provides an accurate and feasible alternative to total body nevus count

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

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

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

The heritability of twinning in seven large historic pedigrees

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

Genome-wide association study suggests the variant rs7551288*A within the DHCR24 gene is associated with poor overall survival in melanoma patients

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

Examining evidence for a causal association between telomere length and nevus count

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

Addressing delicate and variable cancer morphology in spectral histopathology using canine visceral hemangiosarcoma

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

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

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

Candidate glycoprotein biomarkers for canine visceral hemangiosarcoma and validation using semi-quantitative lectin/immunohistochemical assays

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

CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

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

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis

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

Genome-wide association study identifies 48 common genetic variants associated with handedness

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

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants

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

Multiplex melanoma families are enriched for polygenic risk

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

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

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

Gene discovery using twins

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

Genes determining nevus count and dermoscopic appearance in Australian melanoma cases and controls

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

Overlapping genetic architecture between Parkinson disease and melanoma

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

Genetics and gene-environment interactions in childhood and adult onset asthma

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

The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls

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

Naevus count and MC1R R alleles contribute to melanoma risk

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

Variation at DENND1B and Asthma on the Island of Tristan da Cunha

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

IRF4 rs12203592*T/T genotype is associated with nodular melanoma

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

Genome-Wide Association Studies Identify Multiple Genetic Loci Influencing Eyebrow Color Variation in Europeans

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

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

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

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

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

Noncoding variations in the gene encoding ceramide synthase 6 are associated with type 2 diabetes in a large Indigenous Australian pedigree

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

High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk

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

Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

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

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

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

Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

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

‘Mind your Moles’ study: protocol of a prospective cohort study of melanocytic naevi

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

The relationship between personality and somatic and psychological distress: a comparison of Chinese and Australian adolescents

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

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

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

Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study

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

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

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

Towards the full spectrum of genes for human skin colour

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

Accuracy of inferred APOE genotypes for a range of genotyping arrays and imputation reference panels

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

Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: A cross-sectional study

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

Classifying dermoscopic patterns of naevi in a case-control study of melanoma

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

Genome-Wide Association shows that pigmentation genes play a role in skin aging

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

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

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

GSTP1 does not modify MC1R effects on melanoma risk

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

Cysteinyl leukotrienes pathway genes, atopic asthma and drug response: from population isolates to large genome-wide association studies

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

Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53

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

Variation in latent classes of adult attention–deficit hyperactivity disorder by sex and environmental adversity

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

Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: A cross-sectional study

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

Head motion and inattention/hyperactivity share common genetic influences: Implications for fMRI studies of ADHD

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

Genetic factors explain variation in the age at onset of psoriasis: a population-based twin study

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

Potential modifying loci associated with primary lens luxation, pedal hyperkeratosis, and ocular phenotypes in miniature bull terriers

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

Meta-analysis identifies seven susceptibility loci involved in the atopic March

Marenholz, Ingo, Esparza-Gordillo, Jorge, Ruschendorf, Franz, Bauerfeind, Anja, Strachan, David P., Spycher, Ben D., Baurecht, Hansjorg, Margaritte-Jeannin, Patricia, Saaf, Annika, Kerkhof, Marjan, Ege, Markus, Baltic, Svetlana, Matheson, Melanie C., Li, Jin, Michel, Sven, Ang, Wei Q., McArdle, Wendy, Arnold, Andreas, Homuth, Georg, Demenais, Florence, Bouzigon, Emmanuelle, Soderhall, Cilla, Pershagen, Goran, De Jongste, Johan C., Postma, Dirkje S., Braun-Fahrlander, Charlotte, Horak, Elisabeth, Ogorodova, Ludmila M., Puzyrev, Valery P. ... Lee, Young Ae (2015). Meta-analysis identifies seven susceptibility loci involved in the atopic March. Nature Communications, 6 (1) 8804, 8804.1-8804.8. doi: 10.1038/ncomms9804

The prognostic significance of the 2014 International Society of Urological Pathology (ISUP) grading system for prostate cancer

Samaratunga, Hemamali, Delahunt, Brett, Gianduzzo, Troy, Coughlin, Geoff, Duffy, David, LeFevre, Ian, Johannsen, Shulammite, Egevad, Lars and Yaxley, John (2015). The prognostic significance of the 2014 International Society of Urological Pathology (ISUP) grading system for prostate cancer. Pathology, 47 (6), 515-519. doi: 10.1097/PAT.0000000000000315

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Law, Matthew H., Bishop, D. Timothy, Lee, Jeffrey E., Brossard, Myriam, Martin, Nicholas G., Moses, Eric K., Song, Fengju, Barrett, Jennifer H., Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Taylor, John C., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Franoise, Azizi, Esther, Scarra, Giovanna Bianchi, Brown, Kevin M., Debniak, Tadeusz, Duffy, David L., Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola ... Iles, Mark M. (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47 (9), 987-995. doi: 10.1038/ng.3373

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

Liu, Fan, Visser, Mijke, Duffy, David L., Hysi, Pirro G., Jacobs, Leonie C., Lao, Oscar, Zhong, Kaiyin, Walsh, Susan, Chaitanya, Lakshmi, Wollstein, Andreas, Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Mangino, Massimo, Glass, Daniel, Bataille, Veronique, Sturm, Richard A., Rivadeneira, Fernando, Hofman, Albert, van IJcken, Wilfred F. J., Uitterlinden, André G., Palstra, Robert-Jan T. S., Spector, Timothy D., Martin, Nicholas G., Nijsten, Tamar E. C. and Kayser, Manfred (2015). Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Human Genetics, 134 (8), 823-835. doi: 10.1007/s00439-015-1559-0

Contrast Effects and Sex Influence Maternal and Self-Report Dimensional Measures of Attention-Deficit Hyperactivity Disorder

Ebejer, J. L., Medland, S. E., van der Werf, J., Wright, M. J., Henders, A. K., Gillespie, N. A., Hickie, I. B., Martin, N. G. and Duffy, D. L. (2015). Contrast Effects and Sex Influence Maternal and Self-Report Dimensional Measures of Attention-Deficit Hyperactivity Disorder. Behavior Genetics, 45 (1), 35-50. doi: 10.1007/s10519-014-9670-x

Early life environmental predictors of asthma age-of-onset

Ferry, Olivia R., Duffy, David L. and Ferreira, Manuel A. R. (2014). Early life environmental predictors of asthma age-of-onset. Immunity, Inflammation and Disease, 2 (3), 141-151. doi: 10.1002/iid3.27

Identification of a melanoma susceptibility locus and somatic mutation in TET2

Song, Fengju, Amos, Christopher I., Lee, Jeffrey E., Lian, Christine G., Fang, Shenying, Liu, Hongliang, MacGregor, Stuart, Iles, Mark M., Law, Matthew H., Lindeman, Neal I., Montgomery, Grant W., Duffy, David L., Cust, Anne E., Jenkins, Mark A., Whiteman, David C., Kefford, Richard F., Giles, Graham G., Armstrong, Bruce K., Aitken, Joanne F., Hopper, John L., Brown, Kevin M., Martin, Nicholas G., Mann, Graham J., Bishop, D. Timothy, Bishop, Julia A. Newton, Kraft, Peter, Qureshi, Abrar A., Kanetsky, Peter A., Hayward, Nicholas K. ... Han, Jiali (2014). Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis, 35 (9) bgu140, 2097-2101. doi: 10.1093/carcin/bgu140

Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits

Jagirdar, Kasturee, Smit, Darren J., Ainger, Stephen A., Lee, Katie J., Brown, Darren L., Chapman, Brett, Zhao, Zhen Zhen, Montgomery, Grant W., Martin, Nicholas G., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2014). Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. Pigment Cell and Melanoma Research, 27 (4), 552-564. doi: 10.1111/pcmr.12253

Distribution analyses of acquired melanocytic naevi on the trunk

Blake T., McClenahan P., Duffy D., Schaider H., McEniery E. and Soyer H.P. (2014). Distribution analyses of acquired melanocytic naevi on the trunk. Dermatology, 228 (3), 269-275. doi: 10.1159/000358217

Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients

Sturm, Richard A., Fox, Carly, McClenahan, Phil, Jagirdar, Kasturee, Ibarrola-Villava, Maider, Banan, Parastoo, Abbott, Nicola C., Ribas, Gloria, Gabrielli, Brian, Duffy, David L. and Soyer, H. Peter (2014). Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. Journal of Investigative Dermatology, 134 (1), 141-149. doi: 10.1038/jid.2013.272

The inheritance of extra-hepatic portosystemic shunts and elevated bile acid concentrations in Maltese dogs

O'Leary, C. A., Parslow, A., Malik, R., Hunt, G. B., Hurford, R. I., Tisdall, P. L. C. and Duffy, D. L. (2014). The inheritance of extra-hepatic portosystemic shunts and elevated bile acid concentrations in Maltese dogs. Journal of Small Animal Practice, 55 (1), 14-21. doi: 10.1111/jsap.12156

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

Ferreira, Manuel A. R., Matheson, Melanie C., Tang, Clara S., Granell, Raquel, Ang, Wei., Hui, Jennie, Kiefer, Amy K., Duffy, David L., Baltic, Svetlana, Danoy, Patrick, Bui, Minh, Price, Loren, Sly, Peter D., Eriksson, Nicholas, Madden, Pamela A., Abraham, Michael J. A., Holt, Patrick G., Heath, p Andrew C., Hunter, Michael, Musk, Bill, Robertson, Colin F., Le Souef, Peter, Montgomery, Grant W., Henderson, A. John, Tung, Joyce Y., Dharmage, Shyamali C., Brown, Matthew A., James, Alan, Thompson, Philip J. ... Australian Asthma Genetics Consortium Collaborators (2013). Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. Journal of Allergy And Clinical Immunology, 133 (6), 1564-1571. doi: 10.1016/j.jaci.2013.10.030

Investigation of diabetes mellitus in Burmese cats as an inherited trait: a preliminary study

O'Leary, C. A., Duffy, D. L., Gething, M. A., McGuckin, C. and Rand, J. S. (2013). Investigation of diabetes mellitus in Burmese cats as an inherited trait: a preliminary study. New Zealand Veterinary Journal, 61 (6), 354-358. doi: 10.1080/00480169.2013.817295

A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk

Revez, J. A., Bain, L., Chapman, B., Powell, J. E., Jansen, R., Duffy, D. L., Tung, J. Y., AAGC Collaborators, Penninx, B. W., Visscher, P. M., De Geus, E. J. C., Boomsma, D. I., Hinds, D. A., Martin, N. G., Montgomery, G. W., Ferreira, M. A. R., Danoy, Patrick and Brown, Matthew A. (2013). A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk. Genes and Immunity, 14 (7), 441-446. doi: 10.1038/gene.2013.38

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Bønnelykke, Klaus, Matheson, Melanie C., Pers, Tune H., Granell, Raquel, Strachan, David P., Alves, Alexessander Couto, Linneberg, Allan, Curtin, John A., Warrington, Nicole M., Standl, Marie, Kerkhof, Marjan, Jonsdottir, Ingileif, Bukvic, Blazenka K., Kaakinen, Marika, Sleimann, Patrick, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Schramm, Katharina, Baltic, Svetlana, Kreiner-Møller, Eskil, Simpson, Angela, St Pourcain, Beate, Coin, Lachlan, Hui, Jennie, Walters, Eugene H., Tiesler, Carla M. T., Duffy, David L., Jones, Graham, Ring, Susan M. ... Brown, Matthew A. (2013). Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nature Genetics, 45 (8), 902-906. doi: 10.1038/ng.2694

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

Keating, Brendan, Bansal, Aruna T., Walsh, Susan, Millman, Jonathan, Newman, Jonathan, Kidd, Kenneth, Budowle, Bruce, Eisenberg, Arthur, Donfack, Joseph, Gasparini, Paolo, Budimlija, Zoran, Henders, Anjali K., Chandrupatla, Hareesh, Duffy, David L., Gordon, Scott D., Hysi, Pirro, Liu, Fan, Medland, Sarah E., Rubin, Laurence, Martin, Nicholas G., Spector, Timothy D. and Kayser, Manfred (2013). 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. International Journal of Legal Medicine, 127 (3), 559-572. doi: 10.1007/s00414-012-0788-1

Correction: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA (PLoS ONE)

Ramasamy, Adaikalavan, Kuokkanen, Mikko, Vedantam, Sailaja, Gajdos, Zofia K., Alves, Alexessander Couto, Lyon, Helen N., Ferreira, Manuel A. R., Strachan, David P., Zhao, Jing Hua, Abramson, Michael J., Brown, Matthew A., Coin, Lachlan, Dharmage, Shyamali C., Duffy, David L., Haahtela, Tari, Heath, Andrew C., Janson, Christer, Kähönen, Mika, Khaw, Kay-Tee, Laitinen, Jaana, Souef, Peter Le, Lehtimäki, Terho, Madden, Pamela A. F., Marks, Guy B., Martin, Nicholas G., Matheson, Melanie C., Palmer, Cameron D., Palotie, Aarno, Pouta, Anneli ... Hirschhorn, Joel N. (2013). Correction: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA (PLoS ONE). PLoS ONE, 8 (3), 1-1. doi: 10.1371/annotation/9630862b-4676-4b82-9869-8d8fbb2a2e65

Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits

Ebejer, Jane L., Duffy, David L., van der Werf, Julius, Wright, Margaret J., Montgomery, Grant, Gillespie, Nathan A., Hickie, Ian B., Martin, Nicholas G. and Medland, Sarah E. (2013). Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Twin Research and Human Genetics, 16 (2), 560-574. doi: 10.1017/thg.2013.12

Human pigmentation: Painting by numbers or ancestry?

Sturm, Richard A. and Duffy, David L. (2013). Human pigmentation: Painting by numbers or ancestry?. Pigment Cell and Melanoma Research, 26 (5), 605-606. doi: 10.1111/pcmr.12135

Attention deficit hyperactivity disorder in Australian adults: prevalence, persistence, conduct problems and disadvantage

Ebejer, Jane L., Medland, Sarah E., van der Werf, Julius, Gondro, Cedric, Henders, Anjali K., Lynskey, Michael, Martin, Nicholas G. and Duffy, David L. (2012). Attention deficit hyperactivity disorder in Australian adults: prevalence, persistence, conduct problems and disadvantage. Plos One, 7 (10) e47404, e47404. doi: 10.1371/journal.pone.0047404

Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

Ramasamy, Adaikalavan, Kuokkanen, Mikko, Vedantam, Sailaja, Gajdos, Zofia K., Alves, Alexessander Couto, Lyon, Helen N., Ferreira, Manuel A. R., Strachan, David P., Zhao, Jing Hua, Abramson, Michael J., Brown, Matthew A., Coin, Lachlan, Dharmage, Shyamali C., Duffy, David L., Haahtela, Tari, Heath, Andrew C., Janson, Christer, Kahonen, Mika, Khaw, Kay-Tee, Laitinen, Jaana, Le Souef, Peter, Lehtimaki, Terho, Madden, Pamela A. F., Marks, Guy B., Martin, Nicholas G., Matheson, Melanie C., Palmer, Cameron D., Palotie, Aarno, Pouta, Anneli ... Hirschhorn, Joel N. (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 Article No. e44008) e44008, e44008-1-e44008-10. doi: 10.1371/journal.pone.0044008

Human pigmentation genes under environmental selection

Sturm, Richard A. and Duffy, David L. (2012). Human pigmentation genes under environmental selection. Genome Biology, 13 (9) 248, 248.1-248.15. doi: 10.1186/gb-2012-13-9-248

Atopic dermatitis in West Highland white terriers is associated with a 1.3-Mb region on CFA 17

Roque, Joana B., O'Leary, Caroline A., Duffy, David L., Kyaw-Tanner, Myat, Gharahkhani, Puya, Vogelnest, Linda, Mason, Kenneth, Shipstone, Michael and Latter, Melanie (2012). Atopic dermatitis in West Highland white terriers is associated with a 1.3-Mb region on CFA 17. Immunogenetics, 64 (3), 209-217. doi: 10.1007/s00251-011-0577-x

Primary Lens Luxation in Australian Tenterfield and Miniature Bull Terriers is due to an old ADAMTS17 mutation and is an additive trait

Gharahkhani, Puya, O’Leary, Caroline, Duffy, David, Bernays, Michael and Kyaw-Tanner, Myat (2012). Primary Lens Luxation in Australian Tenterfield and Miniature Bull Terriers is due to an old ADAMTS17 mutation and is an additive trait. The Open Genomics Journal, 5 (1), 7-13. doi: 10.2174/1875693X01205010007

PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers

Roque, Joana Barros, O'Leary, Caroline A., Kyaw-Tanner, Myat, Duffy, David L., Gharahkhani, Puya, Vogelnest, Linda, Mason, Kenneth and Shipstone, Michael (2011). PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers. BMC Research Notes, 4 (1) 571, 571.1-571.6. doi: 10.1186/1756-0500-4-571

Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression

Schoof, Nils, Iles, Mark M., Bishop, D. Timothy, Newton-Bishop, Julia A., Barrett, Jennifer H., GenoMEL consortium and Duffy, David (2011). Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. PLoS ONE, 6 (12) e29451, e29451. doi: 10.1371/journal.pone.0029451

Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: A pilot study

Roque, Joana Barros, O'Leary, Caroline A., Kyaw-Tanner, Myat, Duffy, David L. and Shipstone, Michael (2011). Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: A pilot study. BMC Research Notes, 4 (554) 554, 1-7. doi: 10.1186/1756-0500-4-554

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Yokoyama, Satoru, Woods, Susan L., Boyle, Glen M., Aoude, Lauren G., MacGregor, Stuart, Zismann, Victoria, Gartside, Michael, Cust, Anne E., Haq, Rizwan, Harland, Mark, Taylor, John C., Duffy, David L., Holohan, Kelly, Dutton-Regester, Ken, Palmer, Jane M., Bonazzi, Vanessa, Stark, Mitchell S., Symmons, Judith, Law, Matthew H., Schmidt, Christopher, Lanagan, Cathy, O'Connor, Linda, Holland, Elizabeth A., Schmid, Helen, Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Jenkins, Mark A., Kefford, Richard F. ... Brown, Kevin M. (2011). A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature, 480 (7375), 99-103. doi: 10.1038/nature10630

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

Amos, Christopher I., Wang, Li-E, Lee, Jeffrey E., Gershenwald, Jeffrey E., Chen, Wei V., Fang, Shenying, Kosoy, Roman, Zhang, Mingfeng, Qureshi, Abrar A., Vattathil, Selina, Schacherer, Christopher W., Gardner, Julie M., Wang, Yuling, Bishop, D. Tim, Barrett, Jennifer H., MacGregor, Stuart, Hayward, Nicholas K., Martin, Nicholas G., Duffy, David L., Mann, Graham J., Cust, Anne, Hopper, John, Brown, Kevin M., Grimm, Elizabeth A., Xu, Yaji, Han, Younghun, Jing, Kaiyan, McHugh, Caitlin, Laurie, Cathy C. ... Wei, Qingyi (2011). Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Human Molecular Genetics, 20 (24) ddr415, 5012-5023. doi: 10.1093/hmg/ddr415

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

MacGregor, Stuart, Montgomery, Grant W., Liu, Jimmy Z., Zhao, Zhen Zhen, Henders, Anjali K., Stark, Mitchell, Schmid, Helen, Holland, Elizabeth A., Duffy, David L., Zhang, Mingfeng, Painter, Jodie N., Nyholt, Dale R., Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Cust, Anne E., Jenkins, Mark A., Whiteman, David C., Olsson, Hakan, Puig, Susana, Bianchi-Scarra, Giovanna, Hansson, Johan, Demenais, Florence, Landi, Maria Teresa, Debniak, Tadeusz, Mackie, Rona, Azizi, Esther, Bressac-de Paillerets, Brigitte, Goldstein, Alisa M. ... Hayward, Nicholas K. (2011). Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics, 43 (11), 1114-1118. doi: 10.1038/ng.958

Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma

Kvaskoff, Marina, Whiteman, David C., Zhao, Zhen Z., Montgomery, Grant W., Martin, Nicholas G., Hayward, Nicholas K. and Duffy, David L. (2011). Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma. Twin Research and Human Genetics, 14 (5), 422-432. doi: 10.1375/twin.14.5.422

Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning

Luong, Hein T. T., Chaplin, Justin, McRae, Allan F., Medland, Sarah E., Willemsen, Gonneke, Nyholt, Dale R., Henders, Anjali K., Hoekstra, Chantal, Duffy, David L., Martin, Nicholas G., Boomsma, Dorret I., Montgomery, Grant W. and Painter, Jodie N. (2011). Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning. Twin Research and Human Genetics, 14 (5), 408-416. doi: 10.1375/twin.14.5.408

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

Ferreira, Manuel A. R., Matheson, Melanie C., Duffy, David L., Marks, Guy B., Hui, Jennie, Le Souef, Peter, Danoy, Patrick, Baltic, Svetlana, Nyholt, Dale R., Jenkins, Mark, Hayden, Catherine, Willemsen, Gonneke, Ang, Wei, Kuokkanen, Mikko, Beilby, John, Cheah, Faang, de Geus, Eco J.C., Ramasamy, Adaikalavan, Vedantam, Sailaka, Salomaa, Veikko, Madden, Pamela A., Heath, Andrew C., Hopper, John L., Visscher, Peter M., Musk, Bill, Leeder, Stephen R., Jarvelin, Marjo-Riitta, Pennell, Craig, Boomsma, Dorret I. ... Wright, Margaret J. (2011). Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet, 378 (9795), 1006-1014. doi: 10.1016/S0140-6736(11)60874-X

GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development

Larsson, Mats, Duffy, David L., Zhu, Gu, Liu, Jimmy Z., Macgregor, Stuart, McRae, Allan F., Wright, Margaret J., Sturm, Richard A., Mackey, David A., Montgomery, Grant W., Martin, Nicholas G. and Medland, Sarah E. (2011). GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics, 89 (2), 334-343. doi: 10.1016/j.ajhg.2011.07.011

A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers

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

High allergen-specific serum immunoglobulin E levels in nonatopic West Highland white terriers

Roque, Joana B., O'Leary, Caroline A., Kyaw-Tanner, Myat, Latter, Melanie, Mason, Kenneth, Shipstone, Michael, Vogelnest, Linda and Duffy, David (2011). High allergen-specific serum immunoglobulin E levels in nonatopic West Highland white terriers. Veterinary Dermatology, 22 (3), 257-266. doi: 10.1111/j.1365-3164.2010.00939.x

Relationship between type 1 diabetes and atopic diseases in a twin population: type 1 diabetes and atopic diseases in twins

Thomsen, S. F., Duffy, D. L., Kyvik, K. O., Skytthe, A. and Backer, V. (2011). Relationship between type 1 diabetes and atopic diseases in a twin population: type 1 diabetes and atopic diseases in twins. Allergy, 66 (5), 645-647. doi: 10.1111/j.1398-9995.2010.02517.x

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

Ferreira, Manuel A. R., McRae, Allan F., Medland, Sarah E., Nyholt, Dale R., Gordon, Scott D., Wright, Margaret J., Henders, Anjali K., Madden, Pamela A., Visscher, Peter M., Wray, Naomi R., Heath, Andrew C., Montgomery, Grant W., Duffy, David L. and Martin, Nicholas G. (2011). Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. European Journal of Human Genetics, 19 (4), 458-464. doi: 10.1038/ejhg.2010.191

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families

Duffy, David L., Antill, Yoland C., Stewart, Colin J., Young, Joanne R. and Spurdle, Amanda B. (2011). Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families. Twin Research and Human Genetics, 14 (2), 111-118. doi: 10.1375/twin.14.2.111

Risk of asthma in adult twins with type 2 diabetes and increased body mass index

Thomsen, S. F., Duffy, D. L., Kyvik, K. O., Skytthe, A. and Backer, V. (2011). Risk of asthma in adult twins with type 2 diabetes and increased body mass index. Allergy, 66 (4), 562-568. doi: 10.1111/j.1398-9995.2010.02504.x

Genome-wide association study identifies three new melanoma susceptibility loci

Barrett, Jennifer H., Iles, Mark M., Harland, Mark, Taylor, John C., Aitken, Joanne F., Andresen, Per Arne, Akslen, Lars A., Armstrong, Bruce K., Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Corda, Eve, Cust, Anne E., Dębniak, Tadeusz, Duffy, David, Dunning, Alison M., Easton, Douglas F., Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Giles, Graham G., Hansson, Johan, Hocevar, Marko, Höiom, Veronica ... Bishop, D. Timothy (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nature Genetics, 43 (11), 1108-1113. doi: 10.1038/ng.959

Tertiary Gleason pattern 5 on needle biopsy predicts greater tumour volume on radical prostatectomy

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

Genetic influence on the age at onset of asthma: A twin study

Thomsen, Simon Francis, Duffy, David Lorenzo, Kyvik, Kirsten Ohm and Backer, Vibeke (2010). Genetic influence on the age at onset of asthma: A twin study. Journal of Allergy and Clinical Immunology, 126 (3), 626-630. doi: 10.1016/j.jaci.2010.06.017

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot"

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Macgregor, Stuart, Duffy, David L., Spurdle, Amanda B., deFazio, Anna, Gava, Natalie, Webb, Penelope M., Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Rossing, Mary Anne, Doherty, Jennifer Anne, Goodman, Marc T., Lurie, Galina, Thompson, Pamela J., Wilkens, Lynne R., Ness, Roberta B., Moysich, Kirsten B., Chang-Claude, Jenny, Wang-Gohrke, Shan, Cramer, Daniel W., Terry, Kathryn L., Hankinson, Susan E., Tworoger, Shelley S., Garcia-Closas, Montserrat, Yang, Hannah, Lissowska, Jolanta, Chanock, Stephen J. ... Ovarian Cancer Association Consortium (2010). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot". PLoS Genetics, 6 (7), e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

Duffy, David L., Iles, Mark M., Glass, Dan, Zhu, Gu, Barrett, Jennifer H., Hoiom, Veronica, Zhao, Zhen Z., Sturm, Richard A., Soranzo, Nicole, Hammond, Chris, Kvaskoff, Marina, Whiteman, David C., Mangino, Massimo, Hansson, Johan, Newton-Bishop, Julia A., Bataille, Veronique, Hayward, Nicholas K., Martin, Nicholas G., Bishop, D. Timothy, Spector, Timothy D. and Montgomery, Grant W. (2010). IRF4 variants have age-specific effects on nevus count and predispose to melanoma. American Journal of Human Genetics, 87 (1), 6-16. doi: 10.1016/j.ajhg.2010.05.017

Unexpectedly severe acute radiotherapy side effects are associated with single nucleotide polymorphisms of the melanocortin-1 receptor

Fogarty, Gerald B., Muddle, Rory, Sprung, Carl N., Chen, Wei, Duffy, David, Sturm, Richard A. and McKay, Michael J. (2010). Unexpectedly severe acute radiotherapy side effects are associated with single nucleotide polymorphisms of the melanocortin-1 receptor. International Journal of Radiation: Oncology - Biology - Physics, 77 (5), 1486-1492. doi: 10.1016/j.ijrobp.2009.07.1690

A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins

Painter, Jodie N., Willemsen, Gonneke, Nyholt, Dale, Hoekstra, Chantal, Duffy, David L., Henders, Anjali K., Wallace, Leanne, Healey, Sue, Cannon-Albright, Lisa A., Skolnick, Mark, Martin, Nicholas G., Boomsma, Dorret I. and Montgomery, Grant W. (2010). A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins. Human Reproduction, 25 (6), 1569-1580. doi: 10.1093/humrep/deq084

Digital quantification of human eye color highlights genetic association of three new loci

Liu, Fan, Wollstein, Andreas, Hysi, Pirro G., Ankra-Badu, Georgina A., Spector, Timothy D., Park, Daniel, Zhu, Gu, Larsson, Mats, Duffy, David L., Montgomery, Grant W., Mackey, David A., Walsh, Susan, Lao, Oscar, Hofman, Albert, Rivadeneira, Fernando, Vingerling, Johannes R., Uitterlinden, Andrew G., Martin, Nicholas G., Hammond, Christopher J. and Kayser, Manfred (2010). Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genetics, 6 (5), e1000934-1-e1000934-15. doi: 10.1371/journal.pgen.1000934

Characterization of the methylation patterns of MS4A2 in atopic cases and controls

M. A. R. Ferreira, N. A. Oates, J. van Vliet, Z. Z. Zhao, M. Ehrich, N. G. Martin, G. W. Montgomery, E. Whitelaw and D. L. Duffy (2010). Characterization of the methylation patterns of MS4A2 in atopic cases and controls. ALLERGY, 65 (3), 333-337. doi: 10.1111/j.1398-9995.2009.02135.x

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing

Summers, Kim M., Bokil, Nilesh J., Lu, Foong Teng, Low, Jiun Tsuen, Baisden, John M., Duffy, David and Radford, Dorothy J. (2010). Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing. American Journal of Medical Genetics. Part A, 152A (3), 613-621. doi: 10.1002/ajmg.a.33274

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

Duffy, David L., Zhao, Zhen Z., Sturm, Richard A., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2010). Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Journal of Investigative Dermatology, 130 (2), 520-528. doi: 10.1038/jid.2009.258

Any proportion of ductal adenocarcinoma in radical prostatectomy specimens predicts extraprostatic extension

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

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

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

Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

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

Association and interaction analyses of eight genes under asthma linkage peaks

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

Haplotype sharing excludes canine orthologous Filaggrin locus in atopy in West Highland White Terriers

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

Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents

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

A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability

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

Association Study of Common Mitochondrial Variants and Cognitive Ability

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

Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease

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

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

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

Exploring the association between severe respiratory syncytial virus infection and asthma: A registry-based twin study

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

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

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

Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers

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

Heritability and Linkage Analysis of Appendicitis Utilizing Age at Onset

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

Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma

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

Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci

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

Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families

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

Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1

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

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning

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

Calculation of IBD probabilities with dense SNP or sequence data

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

Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families

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

Investigation of the relationship between smoking and appendicitis in Australian twins

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

Red hair is the null phenotype of MC1R

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

Cyclooxygenase-2 gene polymorphisms in an Australian population: association of the −1195G>A promoter polymorphism with mild asthma

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

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

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

Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies

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

Spectrophotometric methods for quantifying pigmentation in human hair - influence of MC1R genotype and environment

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

Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: The effects of OCA2 and HERC2

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

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour

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

A study of diabetes mellitus within a large sample of Australian twins

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

The Queensland study of melanoma:Environmental and genetic associations (Q_MEGA): study design, baseline characteristics, and repeatability of phenotype and sun exposure measures

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

Genetic determinants of diabetes are similarly associated with other immune-mediated diseases

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

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles (vol 16, pg 2249, 2007)

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

The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits (vol 30, pg 30, 2006)

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

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability

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

Estimation of variance components for age at menarche in twin families

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

Significance of minute focus of adenocarcinoma on prostate needle biopsy

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

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

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

Evidence of genetic effects on blood lead concentration

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

Effect of the BDNF V166M polymorphism on working memory in healthy adolescents

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

A genome-wide scan for naevus count: Linkage to CDKN2A and to other chromosome regions

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

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

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

Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins

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

Genomewide scans of red cell indices suggest linkage on chromosome 6q23

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

Recent human effective population size estimated from linkage disequilibrium

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

No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II

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

Linkage analysis excludes the involvement of the canine PKD2 homologue in bull terrier polycystic kidney disease

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

A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits

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

Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly

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

ADAM33 haplotypes are associated with asthma in a large Australian population

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

Erratum: A sex-limited genome scan for body mass index in an unselected sample (Twin Research and Human Genetics (2005) 8, 6 (616-632))

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

Handedness in twins: Joint analysis of data from 35 samples

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

Risk factors for asthma in young adults: A co-twin control study

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

A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31

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

An integrated genetic map for linkage analysis

Duffy, David L. (2006). An integrated genetic map for linkage analysis. Behavior Genetics, 36 (1), 4-6. doi: 10.1007/s10519-005-9015-x

Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q

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

HLA and Genomewide Allele Sharing in Dizygotic Twins

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

Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task

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

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins

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

Rapid screening of 4000 individuals for germ-line variations in the BRAF gene

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

The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits

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

Variance components analyses of multiple asthma traits in a large sample of Australian families ascertained through a twin proband

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

BRAF Polymorphisms and Risk of Melanocytic Neoplasia

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

Genetic and environmental influences on skin pattern deterioration

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

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

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

Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families

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

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females

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

A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women

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

Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity

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

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review

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

BRAF polymorphisms and the risk of ovarian cancer of low malignant potential

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

A method for meta-analysis of molecular association studies

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

New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes

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

A polymorphism in the promoter region of the human interleukin-16 gene is not associated with asthma or atopy in an Australian population

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

Polymorphisms in the 5-lipoxygenase activating protein (ALOX5AP) gene are not associated with asthma in an Australian population

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

The CD14 C-159T polymorphism is not associated with asthma or asthma severity in an Australian adult population

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

Association between polymorphisms in the progesterone receptor gene and endometriosis

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

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

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

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

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

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers

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-R183. doi: 10.1186/bcr971

A functional polymorphism in the promoter region of the cyclooxygenase-2 gene is not associated with asthma and atopy in an Australian population

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

Major quantitative trait locus for eosinophil count is located on chromosome 2q

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

A simulation study concerning the effect of varying the residual phenotypic correlation on the power of bivariate quantitative trait loci linkage analysis

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

A deletion mutation in GDF9 in sisters with spontaneous DZ twins

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

A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q

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

A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11

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

CCR5-Delta 32 mutation is strongly associated with primary sclerosing cholangitis

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

Characterization of two polymorphisms in the leukotriene C4 synthase gene in an Australian population of subjects with mild, moderate, and severe asthma

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

Epidermal Growth Factor Gene (EGF) Polymorphism and Risk of Melanocytic Neoplasiay

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

Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees

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

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

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

Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities

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

Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q

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

Ocular melanoma is not associated with CDKN2A or MC1R variants - a population-based study

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

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes

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

Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes

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

Linkage and Association Analysis of Radiation Damage Repair Genes XRCC3 and XRCC5 with Nevus Density in Adolescent Twins

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

Special twin environments, genetic influences and their effects on the handedness of twins and their siblings

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

The Korean Twin Registry - methods, current stage, and interim results

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

Evidence for the genetic control of immunoglobulin E reactivity to the allergens of Alternaria alternata

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

Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23

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.

A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians

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

Linkage of Paget disease of bone to a novel region on human chromosome 18q23

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

Applying statistical approaches in the dissection of genes versus environment for asthma and allergic disease

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.

Variation in Alcohol Pharmacokinetics as a Risk Factor for Alcohol Dependence

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

Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB

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

Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning

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

Natural selection and quantitative genetics of life-history traits in Western women: A twin study

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

Natural selection and quantitative genetics of life-history traits in Western women: a twin study

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

Applying statistical approaches in the dissection of genes versus environment for asthma and allergic disease

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.

Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree

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

Familial Paget's disease of bone: Nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree

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

IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers

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

Increasing the response rate to a mailed questionnaire by including more stamps on the return envelope: A cotwin control study

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

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

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

Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma

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

Dizygotic Twinning Is Not Linked to Variation at the {alpha}-Inhibin Locus on Human Chromosome 2

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

Genetic analysis of the age at menopause by using estimating equations and Bayesian random effects models

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

Effects of HFE C282Y and H63D Polymorphisms and Polygenic Background on Iron Stores in a Large Community Sample of Twins

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

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

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

Genetic studies on atopy and helminthiasis

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

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

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

Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy

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

No common major gene for apolipoprotein A-I and HDL3-C levels: Evidence from bivariate segregation analysis

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

CDKN2A variants in a population-based sample of Queensland families with melanoma

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

Hazard and density estimation from bivariate censored data

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.

Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q

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

Genetic influences of chromosomes 5q31-q33 and 11q13 on specific IgE responsiveness to common inhaled allergens among African American families

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

Genetic regulation of Dermatophagoides pteronyssinus–specific IgE responsiveness: A genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs

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

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

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

A factor analysis of associations among self-reported immune related symptoms in a large twin sample

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

Allergens, IgE, mediators, inflammatory mechanisms: Immunoblotting analysis of twin sera provides evidence for limited genetic control of specific IgE to house dust mite allergens

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

Genetic and environmental risk factors for asthma - A cotwin-control study

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

Genetic and environmental risk factors for asthma : A Cotwin-control study

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

A methodological appraisal of the impact of different classification procedures used in three different phases of the australian rheumatoid arthritis twin survey

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

Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models

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

Evidence for linkage of chromosome 12q15-q24.1 markers to high total serum IgE concentrations in children of the German Multicenter Allergy Study

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

Is fragile X syndrome a risk factor for dizygotic twinning?

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

Genetic effects on variation in red-blood-cell folate in adults: Implications for the familial aggregation of neural tube defects

Mitchell, LE, Duffy, DL, Duffy, P, Bellingham, G and 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 (2), 433-438.

A comprehensive analysis of complex traits in problem 2A

Juo, S.H., Beaty, T.H., Duffy, D.L., Maestri, N.E., Prenger, V.L., Zeiger, J., Lei, H.H. and Coresh, J. (1997). A comprehensive analysis of complex traits in problem 2A. Genetic Epidemiology, 14 (6), 815-820. doi: 10.1002/(sici)1098-2272(1997)14:6<815::aid-gepi42>3.0.co;2-q

Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: Evidence from Afro-Caribbean and Caucasian populations

Barnes, Kathleen C., Neely, John D., Duffy, David L., Freidhoff, Linda R., Breazeale, Daniel R., Schou, Carsten, Naidu, Raana P., Levett, Paul N., Renault, Beatrice, Kucherlapati, Raju, Iozzino, Sebastiano, Ehrlich, Eva, Beaty, Terri H. and Marsh, David G. (1996). Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: Evidence from Afro-Caribbean and Caucasian populations. Genomics, 37 (1), 41-50. doi: 10.1006/geno.1996.0518

Evidence of linkage disequilibrium between schizophrenia and the SCa1 CAG repeat on chromosome 6p23

Wang, S., Detera-Wadleigh, S. D., Coon, H., Sun, C. E., Goldin, L. R., Duffy, D. L., Byerley, W. F., Gershon, E. S. and Diehl, S. R. (1996). Evidence of linkage disequilibrium between schizophrenia and the SCa1 CAG repeat on chromosome 6p23. American Journal of Human Genetics, 59 (3), 731-736.

Atopy in Australia

Duffy, David L., Healey, Sue C., Chenevix-Trench, Georgia, Martin, Nick G., Weger, John and Lichter, Jay (1995). Atopy in Australia. Nature Genetics, 10 (3), 260-260. doi: 10.1038/ng0795-260a

A psychometric evaluation of the Short Interpersonal Reactions Inventory (SIRI) in an Australian twin sample

Roberts, Leonard J., Duffy, David L. and Martin, Nicholas G. (1995). A psychometric evaluation of the Short Interpersonal Reactions Inventory (SIRI) in an Australian twin sample. Personality and Individual Differences, 18 (3), 307-320. doi: 10.1016/0191-8869(94)00158-O

Screening a 2 cM genetic map for allelic association: a simulated oligogenic trait

Duffy, David L. (1995). Screening a 2 cM genetic map for allelic association: a simulated oligogenic trait. Genetic Epidemiology, 12 (6), 595-600. doi: 10.1002/gepi.1370120612

Type A personality in Australian twins

Duffy, David L., Manicavasagar, Vijaya, O'Connell, Dianne, Silove, Derrick, Tennant, Chris and Langelludecke, Pauline (1994). Type A personality in Australian twins. Behavior Genetics, 24 (5), 469-475. doi: 10.1007/bf01076182

Biometrical genetic analysis of the cotwin control design

Duffy, David L. (1994). Biometrical genetic analysis of the cotwin control design. Behavior Genetics, 24 (4), 341-344. doi: 10.1007/bf01067535

Psoriasis in Australian twins

Duffy, D. L., Spelman, L. S. and Martin, N. G. (1993). Psoriasis in Australian twins. Journal of the American Academy of Dermatology, 29 (3), 428-434. doi: 10.1016/0190-9622(93)70206-9

Twin studies in medical research

Duffy, D. L. (1993). Twin studies in medical research. Lancet, 341 (8857), 1418-1419. doi: 10.1016/0140-6736(93)90992-P

Lower respiratory tract symptoms in Queensland schoolchildren: Risk factors for wheeze, cough and diminished ventilatory function

Duffy, D. L., Mitchell, C. A. and Duffy, D. L. (1993). Lower respiratory tract symptoms in Queensland schoolchildren: Risk factors for wheeze, cough and diminished ventilatory function. Thorax, 48 (10), 1021-1024. doi: 10.1136/thx.48.10.1021

A population-based study of bronchial asthma in adult twin pairs

Duffy, David L. (1992). A population-based study of bronchial asthma in adult twin pairs. Chest, 102 (2), 654-655. doi: 10.1378/chest.102.2.654

The standard error of Cohen's kappa by J. Barry Garner, Statistics in Medicine, 10, 767-775 (1991)

Duffy, D. L. (1992). The standard error of Cohen's kappa by J. Barry Garner, Statistics in Medicine, 10, 767-775 (1991). Statistics in Medicine, 11 (11), 1530-2.

Genetic control of the renal clearance of urate: A study of twins

Emmerson B.T., Nagel S.L., Duffy D.L. and Martin N.G. (1992). Genetic control of the renal clearance of urate: A study of twins. Annals of the Rheumatic Diseases, 51 (3), 375-377. doi: 10.1136/ard.51.3.375

Informativeness of twin-nuclear family and nuclear family designs for segregation analysis

Duffy, David L., Eaves, Lindon J. and Vogler, G. P. (1991). Informativeness of twin-nuclear family and nuclear family designs for segregation analysis. Genetic Epidemiology, 8 (4), 231-235. doi: 10.1002/gepi.1370080404

Appendectomy in Australian twins

Duffy, David L., Martin, Nicholas G. and Mathews, John D. (1990). Appendectomy in Australian twins. American Journal of Human Genetics, 47 (3), 590-592.

IRF4 rs12203592*T/T genotype is associated with nodular melanoma

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. ASDR Annual Scientific Meeting 2019, Melbourne, VIC, Australia, 16-17 May 2019.

The Importance of the Gene Locus DHCR24 for the Overall Survival of Melanoma Patients - Results of a genome-wide Association Study (GWAS)

Pflugfelder, A., Yong, X. L. H., Jagirdar, K., Eigentler, T., Soyer, H. P., Sturm, R. A., Garbe, C. and Duffy, D. L. (2019). The Importance of the Gene Locus DHCR24 for the Overall Survival of Melanoma Patients - Results of a genome-wide Association Study (GWAS). Deutschen Hautkrebskongresses (ADO–Jahrestagung), Ludwigshafen, Germany, 11–14 September 2019. Hoboken, NJ United States: Wiley-Blackwell.

Overview of melanoma genetics for dermatologists and results of a genetic analysis of multiple primary melanoma patients

MoMeniman, E., Sturm, R., Duffy, D., Jagirdar, K., Lee, K., Finnane, A., De'Ambrosis, B., Smithers, M. and Soyer, H. P. (2018). Overview of melanoma genetics for dermatologists and results of a genetic analysis of multiple primary melanoma patients. Australasian College of Dermatologists, 51st Annual Scientific Meeting, Gold Coast, Australia, 19–22 May 2018. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/ajd.14_12815

Phenotypic and genotypic analysis of amelanotic melanoma patients drawn from a Queensland case-control study

Rayner, J., Duffy, D., McMeniman, E. K., Jagirdar, K., Lee, K., Soyer, H. P. and Sturm, R. A. (2018). Phenotypic and genotypic analysis of amelanotic melanoma patients drawn from a Queensland case-control study. Australasian College of Dermatologists, 51st Annual Scientific Meeting, Gold Coast, Australia, 19–22 May 2018. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/ajd.10_12815

Iris freckling as a marker of melanoma risk

Laino, A., Berry, E., Jagirdar, K., Lee, K., Duffy, D., Soyer, P. and Sturm, R. (2017). Iris freckling as a marker of melanoma risk. Australasian College of Dermatologists 50th Annual Scientific Meeting, Darling Harbour, New South Wales, Australia, 6–9 May 2017. Richmond, VIC., Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.20_12652

HIGH INCIDENCE OF THE SEGMENTAL BRONCHIAL ANATOMY VARIATIONS OBSERVED DURING BRONCHOSCOPY IN AN AUSTRALIAN POPULATION

Galt, L., Pahoff, C., Ritchie, A., Duffy, D. and Fielding, D. (2016). HIGH INCIDENCE OF THE SEGMENTAL BRONCHIAL ANATOMY VARIATIONS OBSERVED DURING BRONCHOSCOPY IN AN AUSTRALIAN POPULATION. HOBOKEN: WILEY-BLACKWELL.

INTER-OBSERVER VARIABILITY IN THE RECOGNITION OF BRONCHIAL SEGMENTAL ANATOMICAL VARIATIONS BETWEEN EXPERIENCED AND TRAINING BRONCHOSCOPISTS

Galt, L., Pahoff, C., Ritchie, A., Duffy, D. and Fielding, D. (2016). INTER-OBSERVER VARIABILITY IN THE RECOGNITION OF BRONCHIAL SEGMENTAL ANATOMICAL VARIATIONS BETWEEN EXPERIENCED AND TRAINING BRONCHOSCOPISTS. HOBOKEN: WILEY-BLACKWELL.

A GWAS of cognitive impairment as a side effect of cytotoxic therapy

Beadle, Geoffrey, Duffy, David and Wright, Margaret (2016). A GWAS of cognitive impairment as a side effect of cytotoxic therapy. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, 20-23 June 2016. New York, NY United States: Springer .

A case-control study of the associations of PGC1 beta genotype with melanoma, skin reflectance, and naevus count

Ling, X., Yong, H., Pflugfelder, A., Duffy, D., Jagirdar, K., Lee, K., Garbe, C., Soyer, H. P. and Sturm, R. (2016). A case-control study of the associations of PGC1 beta genotype with melanoma, skin reflectance, and naevus count. Asia‐Pacific Combined Dermatology Research Conference 2016, Noosa, QLD, Australia, 25-28 August 2016. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12584

Ace and Tp53 Gene Variants Modulate Risk of Albuminuria in Aboriginal Australians

Hoy, W., Duffy, D. and McDonald, S. (2016). Ace and Tp53 Gene Variants Modulate Risk of Albuminuria in Aboriginal Australians. 15th Asian Pacific Congress of Nephrology (APCN) and 52nd ANZSN ASM, Perth Western Australia, 17–21 September 2016. Hoboken, NJ United States: Wiley-Blackwell. doi: 10.1111/nep.12887

Genome-wide association study unravels genetic determinants of the atopic march

Marenholz, I, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Michel, S., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W. ... Lee, Y-A (2016). Genome-wide association study unravels genetic determinants of the atopic march. Meeting of the European-Academy-of-Allergy-and-Clinical-Immunology, Vienna, Austria, 11-15 June 2016. HOBOKEN: WILEY-BLACKWELL.

Naevus endophenotypes and melanoma risk

McWhirter, S., Lee, K., Wimberley, G., Ong, N., Leikvold, A., Ashley, A., Jagirdar, K., Duffy, D., Soyer, H. P. and Sturm, R. (2016). Naevus endophenotypes and melanoma risk. -, -, -. HOBOKEN: WILEY-BLACKWELL.

The correlation of skin color with dermoscopic nevus patterns in a Queensland high risk melanoma cohort

Ong, Natalie, Duffy, David, Lee, Katie, McClenahan, Phil, Jagirdar, Kasturee, Sturm, Richard and Soyer, H. Peter (2015). The correlation of skin color with dermoscopic nevus patterns in a Queensland high risk melanoma cohort. American Academy of Dermatology 73rd Annual Meeting, San Francisco, CA, United States, 20-24 March 2015. New York, NY, United States: Elsevier . doi: 10.1016/j.jaad.2015.02.722

Glutathione S-transferase P1 Ile105Val polymorphism: phenotypic characteristics and melanoma risk

Daley, G. M., Lee, K. J., Jagirdar, K., Smithers, B. M., Duffy, D. L., Sturm, R. A. and Soyer, H. P. (2015). Glutathione S-transferase P1 Ile105Val polymorphism: phenotypic characteristics and melanoma risk. 48th Annual Scientific Meeting of the Australasian College of Dermatologists, Adelaide SA, Australia, 16 May 2015. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12337

Molecular profiles of reticular and globular naevus patterns: a pilot study

Ong, N., Duffy, D., Leikvold, A., Lee, K., Jagirdar, K., Lin, Lynlee L., Yamada, M., Sturm, R. A., Prow, T. W., Schaider, H. and Soyer, H. P. (2015). Molecular profiles of reticular and globular naevus patterns: a pilot study. 48th Annual Scientific Meeting of the Australasian College of Dermatologists, Adelaide SA, Australia, 16 May 2015. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12337

Nevus count and dermoscopic pattern associated with MC1R RHC-variant alleles in a case-control study of melanoma

McClenahan, Phil, Jagirdar, Kasturee, Lee, Katie, McEniery, Elizabeth, Beh, Sam, Burke, Brian, Duffy, David L., Soyer, H. Peter and Sturm, Richard A. (2015). Nevus count and dermoscopic pattern associated with MC1R RHC-variant alleles in a case-control study of melanoma. 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR), Philadelphia Pa, Apr 18-22, 2015. PHILADELPHIA: American Association for Cancer Research. doi: 10.1158/1538-7445.AM2015-5588

The Predictive Value of Lower Gfr On Risk for Future Incident Albuminuria: Towards a Renal Disease Model Based On Relative Oligonephropathy in Remote-Living Aboriginal People

Hoy, W. E., Duffy, D. L., Mathews, J. D., Mcdonald, S. P., Swanson, C. E., Hayhurst, B., Sharma, S. and Tipiloura, B. (2015). The Predictive Value of Lower Gfr On Risk for Future Incident Albuminuria: Towards a Renal Disease Model Based On Relative Oligonephropathy in Remote-Living Aboriginal People. 51st Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology, Canberra, ACT Australia, 7-9 September 2015. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/nep.12543

Dermoscopy, RCM and histopathology of a regressive melanoma in situ from an individual with a GSTP1 rs1695 polymorphism

Banan, P., McClenahan, P., Duffy, D., Sturm, R. and Soyer, H. P. (2014). Dermoscopy, RCM and histopathology of a regressive melanoma in situ from an individual with a GSTP1 rs1695 polymorphism. The Australasian College of Dermatologists 47th Annual Scientific Meeting, Melbourne Australia, 18–21 May 2014. Richmond Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12174

Naevus phenotypes in homozygous MC1R RHC-variant allele carriers

Sturm, R. A., McClenahan, P., Jagirdar, K., Sivakumaran, K., McEniery, E., Beh, S., Burke, B., Duffy, D. L. and Soyer, H. P. (2014). Naevus phenotypes in homozygous MC1R RHC-variant allele carriers. The Australasian College of Dermatologists 47th Annual Scientific Meeting, Melbourne Australia, 18–21 May 2014. Richmond Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12174

The correlation of skin colour with dermoscopic naevus patterns in a Queensland high risk melanoma cohort

Ong, N., Duffy, D., McEniery, E., McClenahan, P., Jagirdar, K., Sturm, R. and Soyer, H. P. (2014). The correlation of skin colour with dermoscopic naevus patterns in a Queensland high risk melanoma cohort. The Australasian College of Dermatologists 47th Annual Scientific Meeting, Melbourne Australia, 18–21 May 2014. Richmond Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12174

Clarification of varying genetic expression and structure within adolescent monozygotic and dizygotic twins discordant for high and low attention and activity

Ebejer, Jane, Medland, Sarah, Martin, Nick G., Wright, Margaret, Montgomery, Grant, Powell, Joseph, Visscher, Peter and Duffy, David (2013). Clarification of varying genetic expression and structure within adolescent monozygotic and dizygotic twins discordant for high and low attention and activity. 43rd Annual Meeting of the Behavior-Genetics-Association, Marseille France, 28 June-02 July 2013. New York, NY United States: Springer New York LLC. doi: 10.1007/s10519-013-9623-9

Quantifying the distribution of acquired melanocytic naevi on the trunk

Blake, T., McClenahan, P., Duffy, D., McEniery, E. and Soyer, H. P. (2013). Quantifying the distribution of acquired melanocytic naevi on the trunk. Biennial Spring Conference, Cairns, Queensland, 3–6 October 2013. Richmond Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12104

Dermoscopic naevus characterisation in 82 melanoma patients in Queensland

Douglas, N. C., Schulpen, J. M., McClenahan, P. J., Duffy, D. L. and Soyer, H. P. (2012). Dermoscopic naevus characterisation in 82 melanoma patients in Queensland. The Australasian College of Dermatologists 45th Annual Scientific Meeting, Brisbane, Australia, 20-23 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1440-0960.2012.00892.x

Heritability of SWAN-measured ADHD in adolescents and adults

Ebejer, Jane, Medland, Sarah, Eldridge, Ann, Grace, Marlene, Henders, Anjali, Martin, Nick, McAloney, Kerrie, Wright, Margie, Smyth, David and Duffy, David (2012). Heritability of SWAN-measured ADHD in adolescents and adults. 42nd Annual Meeting of the Behavior Genetics Association, Edinburgh, Scotland, 22-25 June, 2012. New York, NY, United States: Springer New York LLC.

IgE responsiveness to Dermatophagoides farinae in West Highland white terrier dogs is associated with region on CFA35

Roque, Joana Barros, O'Leary, Caroline Ann, Duffy, David Lorenzo, Kyaw-Tanner, Myat, Latter, Melanie, Mason, Kenneth, Vogelnest, Linda and Shipstone, Michael (2011). IgE responsiveness to Dermatophagoides farinae in West Highland white terrier dogs is associated with region on CFA35. Fifth International Conference on Advances in Canine and Feline Genomics and Inherited Diseases, Baltimore, MA, United States, 22-25 September 2010. Oxford, United Kingdom: Oxford University Press. doi: 10.1093/jhered/esr054

Correlation of Conventional and Modified Gleason Grading of Prostatic Adenocarcinoma after Radical Prostatectomy

Samaratunga, H., Delahunt, B., Duffy, D. and Yaxley, J. (2009). Correlation of Conventional and Modified Gleason Grading of Prostatic Adenocarcinoma after Radical Prostatectomy. 98th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology, Boston, MA, United States, Mar 07-13, 2009. NEW YORK: NATURE PUBLISHING GROUP.

Nucleotide polymorphisms in the gene encoding lass6 are strongly associated with type 2 diabetes

Good, David A., Duffy, David L., Good, Manuela, Guo, Chengxia, Cardinal, John, Wei, Ming Q., Busfield, Frances, Chan, Lionel C., Shaw, Andrew and Shaw, Joanne T. (2008). Nucleotide polymorphisms in the gene encoding lass6 are strongly associated with type 2 diabetes. 67th Annual Meeting of the American-Diabetes-Association, San Francicso Ca, Jun 06-10, 2008. ALEXANDRIA: AMER DIABETES ASSOC.

Anterior dominant prostate cancer compared with posterior cancers in a PSA non-screened population

Samaratunga, H., Delahunt, B., Duffy, D. and Yaxley, J. (2008). Anterior dominant prostate cancer compared with posterior cancers in a PSA non-screened population. 97th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology, Denver Co, Mar 01-07, 2008. NEW YORK: NATURE PUBLISHING GROUP.

Anterior dominant prostate cancer compared with posterior cancers in a PSA non-screened population

Samaratunga, H., Delahun, B., Duffy, D. and Yaxley, J. (2008). Anterior dominant prostate cancer compared with posterior cancers in a PSA non-screened population. 97th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology, Denver CO, United States, Mar 01-07, 2008. London, United Kingdom: Nature Publishing Group.

Any proportion of ductal adenocarcinoma of the prostate predicts higher stage disease

Samaratunga, H., Delahunt, B., Duffy, D., Brown, I. and Yaxley, J. (2008). Any proportion of ductal adenocarcinoma of the prostate predicts higher stage disease. 97th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology, Denver, CO, United States, Mar 01-07, 2008. NEW YORK: NATURE PUBLISHING GROUP.

Evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in families from Australia, South America and Italy

Sukor, N., Mulatero, P., Gordon, R., So, A., Duffy, D., Bertello, C., Kelemen, L., Jeske, Y., Veglio, F. and Stowasser, M. (2008). Evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in families from Australia, South America and Italy. 18th Annual Meeting of the European Society of Hypertension and 22nd Scientific Meeting of the International Society of Hypertension, Berlin, Germany, 14-19 June 2008. United States: Lippincott Williams & Wilkins.

Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II

Jeske, Y., So, A., Kelemen, L, Sukor, N., Willys, C., Bulmer, B. J., Gordon, R. D., Duffy, D. and Stowasser, M. (2008). Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. IVth Franco-Australian Meeting on Hypertension, Northern Territory, Australia, September 2007. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/j.1440-1681.2008.04882.x

Familial hyperaldosteronism type II - evidence for linkage at chromosome 7p22 in families from Australia, South America and Italy

Sukor, N., Stowasser, M., So, A., Duffy, D., Kelemen, L., Jeske, Y., Mulatero, P. and Gordon, R.D. (2008). Familial hyperaldosteronism type II - evidence for linkage at chromosome 7p22 in families from Australia, South America and Italy. 29th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Adelaide, Australia, 5-8 December 2007. United States: Lippincott Williams & Wilkins. doi: 10.1161/HYPERTENSIONAHA.108.009996

Genotyping and expression studies of 7p22 candidate genes in familial hyperaldosteronism type II

Jeske, Y.W., So, A., Kelemen, L., Sukor, N., Willys, C., Gordon, R.D., Duffy, D. and Stowasser, M. (2008). Genotyping and expression studies of 7p22 candidate genes in familial hyperaldosteronism type II. 29th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Adelaide, Australia, 5-8 December 2007. United States: Lippincott Williams & Wilkins. doi: 10.1161/HYPERTENSIONAHA.108.009996

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading ability

Luciano, Michelle, Lind, Penelope, Duffy, David, Castles, Anne, Wright, Margie, Montgomery, Grant, Martin, Nick and Bates, Tim (2007). A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading ability. 37th Annual Meeting of the Behavior Genetics Association, Amsterdam, Netherlands, June 3-8, 2007. New York, NY, United States: Springer New York LLC.

Examination of candidate genes at chromosome 7p22 in familial hyperaldosteronism type II

Jeske, YW, So, A, Kelemen, L, Bulmer, B, Gordon, RD, Duffy, D and Stowasser, M (2007). Examination of candidate genes at chromosome 7p22 in familial hyperaldosteronism type II. 28th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Brisbane, Australia, 7-8 December 2006. Baltimore, MD: Lippincott Williams & Wilkins for the American Heart Association. doi: 10.1161/HYPERTENSIONAHA.107.009421

Genetic basis of familial hyperaldosteronism type II: Further evidence of linkage at chromosome 7p22

So, A, Jeske, Y., Gordon, R. D., Duffy, D., Kelemen, L., Bulmer, B. and Stowasser, M. (2007). Genetic basis of familial hyperaldosteronism type II: Further evidence of linkage at chromosome 7p22. 28th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Brisbane, Australia, 7-8 December 2006. Baltimore, USA: Lippincott Williams & Wilkins for the American Heart Association. doi: 10.1161/HYPERTENSIONAHA.107.009421

Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions

So, A., Jeske, Y., Gordon, R. D., Duffy, D. L., Bulmer, B. J. and Stowasser, M. (2006). Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions. 27th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Melbourne, Australia, 7-9 December, 2006. Oxford, UK: Blackwell. doi: 10.1111/j.1440-1681.2006.04428.x

No evidence of mutations in RBAK and PMS2 in association with familial hyperaldosteronism type II

So, A., Jeske, Y., Gordon, R. D., Duffy, D., Kelemen, L. and Stowasser, M. (2006). No evidence of mutations in RBAK and PMS2 in association with familial hyperaldosteronism type II. 21st Scientific Meeting of the International Society of Hypertension, Fukuoka, Japan, 15 to 19 October 2006. Japan: International Society of Hypertension.

Familial hyperaldosteronism type II (FH-II): Further evidence for linkage at chromosome 7p22 but also for the predicted genetic heterogeneity

So, A., Stowasser, M., Gordon, R., Duffy, D. and Jeske, Y. (2005). Familial hyperaldosteronism type II (FH-II): Further evidence for linkage at chromosome 7p22 but also for the predicted genetic heterogeneity. The 26th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia Inc., Sydney, Australia, 24-26 November, 2004. Blackwell Scientific Publications: BLACKWELL PUBLISHING.

Further evidence of linkage at 7p22 with familial hyperaldosteronism type II

So, Albertina, Stowasser, Michael, Gordon, Richard, Duffy, David and Jeske, Yvette (2005). Further evidence of linkage at 7p22 with familial hyperaldosteronism type II. 20th Annual Scientific Meeting of the American Society of Hypertension, San Francisco, USA, 14-18 May 2005. Elsevier Inc: New York, USA. doi: 10.1016/j.amjhyper.2005.03.659

Lack of association in Australian patients with primary aldosteronism (PAL) of the aldosterone synthase CYP11B2 gene polymorphisms,-344C/T or intron2 conversion

Stowasser, M, Jeske, Y., So, A., Gordon, R. and Duffy, D. (2005). Lack of association in Australian patients with primary aldosteronism (PAL) of the aldosterone synthase CYP11B2 gene polymorphisms,-344C/T or intron2 conversion. The 26th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia Inc., Sydney, Australia, 24-26 November, 2004. Oxford: Blackwell Scientific Publications.

No association between primary aldosteronism and two CYP11B2 polymorphisms in a well-characterized Australian sample

Jeske, Y., So, A., Gordon, R. D., Duffy, D. and Stowasser, M. (2005). No association between primary aldosteronism and two CYP11B2 polymorphisms in a well-characterized Australian sample. 20th Annual Scientific Meeting of the American Society of Hypertension, San Francisco, U.S.A., 14-18 May 2005. New York, U.S.A.: Nature Publishing Group. doi: 10.1016/j.amjhyper.2005.03.012

The rebirth of primary aldosteronism

Stowasser, M., Gordon, R., Duffy, D., Rutherford, J., So, A. and Jeske, Y. (2004). The rebirth of primary aldosteronism. 12th International Congress of Endocrinology, Lisbon Portugal, August 31-September 4 2004. Bologna, Italy: Medimond.

Using multivariate linkage methods to locate QTLs for word recognition and IQ

Luciano, M., Wainwright, M., Wright, M. J., Geffen, G. M., Duffy, D. L and Martin, N. G. (2004). Using multivariate linkage methods to locate QTLs for word recognition and IQ. Behavior Genetics Association 34th Annual Meeting , Aix en Provence, France, June 2004. New York, NY United States: Springer.

Genetic association and cellular function of MC1R variant alleles in human pigmentation

Sturm, R. A., Duffy, D. L., Box, N. F., Newton, R. A., Shepherd, A. G., Chen, W., Marks, L. H., Leonard, J. H. and Martin, N. G. (2003). Genetic association and cellular function of MC1R variant alleles in human pigmentation. Fifth International Melanocortin Meeting, Sunriver, Oregon, August 25-28, 2002. New York, U.S.: The Academy. doi: 10.1111/j.1749-6632.2003.tb03199.x

Relationship between handedness and placentation in an Australian twin sample

Medland, S. E., Wright, M. J., Duffy, D. L., Geffen, G. M., Hay, D. A., Levy, F. and Martin, N. G. (2002). Relationship between handedness and placentation in an Australian twin sample. 8th National Conference of the APS College of Clinical Neuropsychologists, Maroochydore, QLD Australia, 3–6 October 2002. Oxford, United Kingdom: Wiley-Blackwell.

Novel susceptibility gene for NIDDM is localised to human chromosome 12q

Shaw, JTE, Lovelock, PK, Duffy, D, Cardinal, J, Berkholz, JR, Kesting, JB and Wainwright, B (1998). Novel susceptibility gene for NIDDM is localised to human chromosome 12q. NEW YORK: SPRINGER VERLAG.

Acquired Melanocytic Nevi Images documented with dermoscopy, pigmentation characteristics and MC1R genotypes in a Han Chinese population

Dong, Huiting, Soyer, H. Peter, Sturm, Richard A., Lee, Katie, Jagirdar, Kasturee and Duffy, David (2016). Acquired Melanocytic Nevi Images documented with dermoscopy, pigmentation characteristics and MC1R genotypes in a Han Chinese population. The University of Queensland. (Dataset) doi: 10.14264/uql.2017.109