Honorary Professor Stuart Macgregor
Honorary Professor
School of Biomedical Sciences
QIMR Berghofer
Journal Articles
Diaz-Torres, Santiago, He, Weixiong, Yu, Regina, IGGC International Glaucoma Genetics Consortium, Han, Xikun, Hamel, Andrew R., Young, Terri L., Lotery, Andrew J., Jorgenson, Eric, Choquet, Hélène, Hauser, Michael, Cooke Bailey, Jessica N., Nakazawa, Toru, Shiga, Yukihiro, Segrè, Ayellet V., Khawaja, Anthony P., Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Wu, Yeda, Kubo, Michiaki, Akiyama, Masato, Aung, Tin, Cheng, Ching-Yu, Khor, Chiea Chuen, Kraft, Peter, Kang, Jae H., Hewitt, Alex W., Mackey, David A. ... Gharahkhani, Puya (2024). Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma. Nature Communications, 15 (1) 9959. doi: 10.1038/s41467-024-54301-2
Diaz-Torres, Santiago, Lee, Samantha Sze-Yee, García-Marín, Luis M., Campos, Adrian I., Lingham, Garreth, Ong, Jue-Sheng, Mackey, David A., Burdon, Kathryn P., Hunter, Michael, Dong, Xianjun, MacGregor, Stuart, Gharahkhani, Puya and Rentería, Miguel E. (2024). Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis. Nature Communications, 15 (1) 9116, 1-10. doi: 10.1038/s41467-024-53212-6
Chaurasia, Abadh K., MacGregor, Stuart, Craig, Jamie E., Mackey, David A. and Hewitt, Alex W. (2024). Assessing the efficacy of synthetic optic disc images for detecting glaucomatous optic neuropathy using deep learning. Translational Vision Science and Technology, 13 (6) ARTN 1, 1-11. doi: 10.1167/tvst.13.6.1
Le, Ngoc-Quynh, He, Weixiong and MacGregor, Stuart (2024). Polygenic risk scores and genetically complex eye disease. Annual Review of Vision Science, 10 (1), 403-423. doi: 10.1146/annurev-vision-102122-103958
Keatley, Jay, Law, Matthew H., Seviiri, Mathias, Olsen, Catherine M., Pandeya, Nirmala, Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C. and Dusingize, Jean Claude (2024). Genetic predisposition to childhood obesity does not influence the risk of developing skin cancer in adulthood. Scientific Reports, 14 (1) 7854. doi: 10.1038/s41598-024-58418-8
He, Weixiong, Han, Xikun, Ong, Jue-Sheng, Wu, Yeda, Hewitt, Alex W., Mackey, David A., Gharahkhani, Puya and MacGregor, Stuart (2024). Genome-wide meta-analysis identifies novel loci and improves disease prediction of age-related macular degeneration. Ophthalmology, 131 (1), 16-29. doi: 10.1016/j.ophtha.2023.08.023
Dusingize, Jean Claude, Law, Matthew H., Seviiri, Mathias, Olsen, Catherine M., Pandeya, Nirmala, Landi, Maria Teresa, Iles, Mark M., Neale, Rachel E., Ong, Jue-Sheng, MacGregor, Stuart and Whiteman, David C. (2023). Genetic variants for smoking behaviour and risk of skin cancer. Scientific Reports, 13 (1) 16873, 1-9. doi: 10.1038/s41598-023-44144-0
Gharahkhani, Puya, He, Weixiong, Diaz Torres, Santiago, Wu, Yeda, Ingold, Nathan, Yu, Regina, Seviiri, Mathias, Ong, Jue-Sheng, Law, Matthew H., Craig, Jamie E., MacKey, David A., Hewitt, Alex W. and MacGregor, Stuart (2023). Study profile: the Genetics of Glaucoma Study. BMJ Open, 13 (8) e068811, e068811. doi: 10.1136/bmjopen-2022-068811
Diaz-Torres, Santiago, He, Weixiong, Thorp, Jackson, Seddighi, Sahba, Mullany, Sean, Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Khawaja, Anthony P., Hewitt, Alex W., Craig, Jamie E., Mackey, David A., Wiggs, Janey L., van Duijn, Cornelia, Lupton, Michelle K., Ong, Jue-Sheng, MacGregor, Stuart and Gharahkhani, Puya (2023). Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. eBioMedicine, 92 104615, 1-12. doi: 10.1016/j.ebiom.2023.104615
Dusingize, Jean Claude, Olsen, Catherine M., Law, Matthew H., Pandeya, Nirmala, Neale, Rachel E., MacGregor, Stuart, Whiteman, David C. and Ong, Jue- Sheng (2023). Cholesterol‐lowering genetic variants are not associated with risk of skin cancer. Journal of the European Academy of Dermatology and Venereology, 37 (6), e792-e795. doi: 10.1111/jdv.18886
Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L., Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H., Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F., Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S., Campbell, Archie, Cheuk, Cecilia S. K. ... The 23andMe Research Team (2023). The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 55 (3), 423-436. doi: 10.1038/s41588-023-01323-z
Marshall, Henry, Berry, Ella C, Torres, Santiago Diaz, Mullany, Sean, Schmidt, Joshua, Thomson, Daniel, Nguyen, Thi Thi, Knight, Lachlan SW, Hollitt, Georgina, Qassim, Ayub, Kolovos, Antonia, Ridge, Bronwyn, Schulz, Angela, Lake, Stewart, Mills, Richard A, Agar, Ashish, Galanopoulos, Anna, Landers, John, Healey, Paul R, Graham, Stuart L, Hewitt, Alex W, Casson, Robert J, MacGregor, Stuart, Siggs, Owen M and Craig, Jamie E (2023). Association between body mass index and primary open angle glaucoma in three cohorts. American Journal of Ophthalmology, 245, 126-133. doi: 10.1016/j.ajo.2022.08.006
Dusingize, Jean Claude, Law, Matthew H., Pandeya, Nirmala, Neale, Rachel E., Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C. and Olsen, Catherine M. (2022). Genetically determined cutaneous nevi and risk of cancer. International Journal of Cancer, 150 (6), 961-968. doi: 10.1002/ijc.33874
Dusingize, Jean Claude, Olsen, Catherine M., An, Jiyuan, Pandeya, Nirmala, Liyanage, Upekha E., Law, Matthew H., Neale, Rachel E., Ong, Jue-Sheng, MacGregor, Stuart and Whiteman, David C. (2020). Genetically determined risk of keratinocyte carcinoma and risk of other cancers. International Journal of Epidemiology, 50 (4), 1316-1324. doi: 10.1093/ije/dyaa265
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
Dong, Jing, Levine, David M., Buas, Matthew F., Zhang, Rui, Onstad, Lynn, Fitzgerald, Rebecca C., Corley, Douglas A., Shaheen, Nicholas J., Lagergren, Jesper, Hardie, Laura J., Reid, Brian J., Iyer, Prasad G., Risch, Harvey A., Caldas, Carlos, Caldas, Isabel, Pharoah, Paul D., Liu, Geoffrey, Gammon, Marilie D., Chow, Wong-Ho, Bernstein, Leslie, Bird, Nigel C., Ye, Weimin, Wu, Anna H., Anderson, Lesley A., MacGregor, Stuart, Whiteman, David C., Vaughan, Thomas L. and Thrift, Aaron P. (2018). Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett's Esophagus. Clinical Gastroenterology and Hepatology, 16 (10), 1598-1606.e4. doi: 10.1016/j.cgh.2018.03.007
Gharahkhani, Puya, Burdon, Kathryn P., Cooke Bailey, Jessica N, Hewitt, Alex W., Law, Matthew H., Pasquale, Louis R., Kang, Jae H., Haines, Jonathan L., Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owen M., Landers, John, Awadalla, Mona, Sharma, Shiwani, Mills, Richard A., Ridge, Bronwyn, Lynn, David, Casson, Robert, Graham, Stuart L., Goldberg, Ivan, White, Andrew, Healey, Paul R., Grigg, John, Lawlor, Mitchell, Mitchell, Paul, Ruddle, Jonathan, Coote, Michael, Walland, Mark, Best, Stephen ... NEIGHBORHOOD consortium (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific reports, 8 (1) 3124, 3124. doi: 10.1038/s41598-018-20435-9
Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G., Chenevix-Trench, Georgia, Quinn, Michael C. J., Cornelis, Marilyn C., Gharahkhani, Puya, Webb, Penelope M., MacGregor, Stuart and Ovarian Cancer Association Consortium (2017). Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. International Journal of Epidemiology, 47 (2), 450-459. doi: 10.1093/ije/dyx236
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
French, Juliet D., Johnatty, Sharon E., Lu, Yi, Beesley, Jonathan, Gao, Bo, Kalimutho, Murugan, Henderson, Michelle J., Russell, Amanda J., Kar, Siddhartha, Chen, Xiaoging, Hillman, Kristine M., Kaufmann, S, Sivakumaran H., O'Reilly, Martin, Wang, Chen, Korbie, Darren J., Lambrechts, Diether, Despierre, Evelyn, Van Nieuwenhuysen, Els, Lambrechts, Sandra, Vergote, Ignace, Karlan, Beth, Lester, Jenny, Orsulic, Sandra, Walsh, Christine, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Hein, Alexander ... MacGregor, Stuart (2016). Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. Oncotarget, 7 (6), 6353-6368. doi: 10.18632/oncotarget.7047
Law, Matthew H., Rowe, Casey J., Montgomery, Grant W., Hayward, Nicholas K., MacGregor, Stuart and Khosrotehrani, Kiarash (2015). PARP1 polymorphisms play opposing roles in melanoma occurrence and survival. International Journal of Cancer, 136 (10), 2488-2489. doi: 10.1002/ijc.29280
Yazar, Seyhan, Cuellar-Partida, Gabriel, McKnight, Charlotte M., Quach-Thanissorn, Piriya, Mountain, Jenny A., Coroneo, Minas T., Pennell, Craig E., Hewitt, Alex W., MacGregor, Stuart and Mackey, David A. (2015). Genetic and environmental factors in conjunctival UV autofluorescence. JAMA Ophthalmology, 133 (4), 406-412. doi: 10.1001/jamaophthalmol.2014.5627
Miyake, Masahiro, Yamashiro, Kenji, Tabara, Yasuharu, Suda, Kenji, Morooka, Satoshi, Nakanishi, Hideo, Khor, Chiea-Chuen, Chen, Peng, Qiao, Fan, Nakata, Isao, Akagi-Kurashige, Yumiko, Gotoh, Norimoto, Tsujikawa, Akitaka, Meguro, Akira, Kusuhara, Sentaro, Polasek, Ozen, Hayward, Caroline, Wright, Alan F., Campbell, Harry, Richardson, Andrea J., Schache, Maria, Takeuchi, Masaki, Mackey, David A., Hewitt, Alex W., Cuellar, Gabriel, Shi, Yi, Huang, Luling, Yang, Zhenglin, Leung, Kim Hung ... Yoshimura, Nagahisa (2015). Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia. Nature Communications, 6 (1) 6689. doi: 10.1038/ncomms7689
Cheng C.-Y., Schache M., Ikram M.K., Young T.L., Guggenheim J.A., Vitart V., MacGregor S., Verhoeven V.J.M., Barathi V.A., Liao J., Hysi P.G., Bailey-Wilson J.E., St. Pourcain B., Kemp J.P., McMahon G., Timpson N.J., Evans D.M., Montgomery G.W., Mishra A., Wang Y.X., Wang J.J., Rochtchina E., Polasek O., Wright A.F., Amin N., Van Leeuwen E.M., Wilson J.F., Pennell C.E., Van Duijn C.M. ... Consortium for Refractive Error and Myopia (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics, 93 (2), 264-277. doi: 10.1016/j.ajhg.2013.06.016
Levine, D.M., Ek, W.E., Zhang, R., Liu, X., Onstad, L., Sather, C., Lao-Sirieix, P., Gammon, M.D., Corley, D.A., Shaheen, N.J., Bird, N.C., Hardie, L.J., Murray, L.J., Reid, B.J., Chow, W.-H., Risch ,H.A., Nyren, O., Ye, W., Liu, G., Romero, Y., Bernstein, L., Wu, A.H., Casson, A.G., Chanock, S.J., Harrington, P., Caldas, I., Debiram-Beecham, I., Caldas, C., Hayward, N.K. ... Vaughan, T.L. (2013). A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. Nature Genetics, 45 (12), 1487-1493. doi: 10.1038/ng.2796
Iles M.M., Law M.H., Stacey S.N., Han J., Fang S., Pfeiffer R., Harland M., MacGregor S., Taylor J.C., Aben K.K., Akslen L.A., Avril M.-F., Azizi E., Bakker B., Benediktsdottir K.R., Bergman W., Scarra G.B., Brown K.M., Calista D., Chaudru V., Fargnoli M.C., Cust A.E., Demenais F., De Waal A.C., Debniak T., Elder D.E., Friedman E., Galan P., Ghiorzo P. ... Barrett J.H. (2013). A variant in FTO shows association with melanoma risk not due to BMI. Nature Genetics, 45 (4), 428-432. doi: 10.1038/ng.2571
Liu H., Wang L.-E., Liu Z., Chen W.V., Amos C.I., Lee J.E., Iles M.M., Law M.H., Barrett J.H., Montgomery G.W., Taylor J.C., Macgregor S., Cust A.E., Bishop J.A.N., Hayward N.K., Bishop D.T., Mann G.J., Affleck P. and Wei Q. (2013). Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. Carcinogenesis, 34 (4), 885-892. doi: 10.1093/carcin/bgs407
Qian, J., Liu, H., Wei, S., Liu, Z., Li,Y., Wang, L..-E., Chen, W.V., Amos, C.I., Lee, J.E., Iles, M.M., Law, M.H., Cust, A.E., Barrett, J.H., Montgomery, G.W., Taylor, J., Bishop, J.A.N., Macgregor, S., Bishop, D.T., Mann, G.J., Hayward, N.K. and Wei, Q. (2013). Association between putative functional variants in the PSMB9 gene and risk of melanoma - re-analysis of published melanoma genome-wide association studies. Pigment Cell and Melanoma Research, 26 (3), 392-401. doi: 10.1111/pcmr.12069
Law, Matthew H., MacGregor, Stuart and Hayward, Nicholas K. (2012). Melanoma genetics: Recent findings take us beyond well-traveled pathways. Journal of Investigative Dermatology, 132 (7), 1763-1774. doi: 10.1038/jid.2012.75
Law, Matthew H., Montgomery, Grant W., Brown, Kevin M., Martin, Nicholas G., Mann, Graham J., Hayward, Nicholas K., MacGregor, Stuart and Q-MEGA and AMFS Investigators (2012). Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk. Journal of Investigative Dermatology, 132 (2), 485-487. doi: 10.1038/jid.2011.322
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
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
Chen, X., Lee, G., Maher, B. S., Fanous, A. H., Chen, J., Zhao, Z., Guo, A., van den Oord, E., Sullivan, P. F., Shi, J., Levinson, D. F., Gejman, P. V., Sanders, A., Duan, J., Owen, M. J., Craddock, N. J., O'Donovan, M. C., Blackman, J., Lewis, D., Kirov, G. K., Qin, W., Schwab, S., Wildenauer, D., Chowdari, K., Nimgaonkar, V., Straub, R. E., Weinberger, D. R., O'Neill, F. A., Walsh, D. ... Visscher, Peter M. (2011). GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Molecular Psychiatry, 16 (11), 1117-1129. doi: 10.1038/mp.2010.96
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
Beesley, Jonathan, Pickett, Hilda A., Johnatty,Sharon E., Dunning, Alison M., Chen, Xiaoqing, Li, Jun, Michailidou, Kyriaki, Lu, Yi, Rider, David N., Palmieri, Rachel T., Stutz, Michael D., Lambrechts, Diether, Despierre, Evelyn, Lambrechts, Sandrina, Vergote, Ignace, Chang-Claude, Jenny, Nickels, Stefan, Vrieling, Alina, Flesch-Janys, Dieter, Wang-Gohrke, Shan, Eilber, Ursula, Bogdanova, Natalia, Antonenkova, Natalia, Runnebaum, Ingo B., Dörk, Thilo, Goodman, Marc T., Lurie, Galina, Wilkens, Lynne R., Matsuno, Rayna K. ... on behalf of the Ovarian Cancer Association Consortium (2011). Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One, 6 (9), e24987 .1-e24987 .6. doi: 10.1371/journal.pone.0024987
Huang, R. Stephanie, Johnatty, Sharon E., Gamazon, Eric R., Im, Hae Kyung, Ziliak, Dana, Duan, Shiwei, Zhang, Wei, Kistner, Emily O., Chen, Peixian, Beesley, Jonathan, Mi, Shuangli, O'Donnell, Peter H., Fraiman, Yarden S., Das, Soma, Cox, Nancy J., Lu, Yi, MacGregor, Stuart, Goode, Ellen L., Vierkant, Robert A., Fridley, Brooke L., Hogdall, Estrid, Kjaer, Susanne K., Jensen, Allan, Moysich, Kirsten B., Grasela, Matthew, Odunsi, Kunle, Brown, Robert, Paul, Jim, Lambrechts, Diether ... Dolan, M. Eileen (2011). Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Clinical Cancer Research, 17 (16), 5490-5500. doi: 10.1158/1078-0432.CCR-11-0724
Pharoah, Paul D. P., Palmieri, Rachel T., Ramus, Susan J., Gayther, Simon A., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Antoniou, Antonis C., Beattie, Mary S., Beckmann, Matthias W., Birrer, Michael J., Bogdanova, Natalia, Bolton, Kelly L., Brewster, Wendy, Brooks-Wilson, Angela, Brown, Robert, Butzow, Ralf, Caldes, Trinidad, Caligo, Maria Adelaide, Campbell, Ian, Chang-Claude, Jenny, Chen, Y. Ann, Cook, Linda S., Couch, Fergus J., Cramer, Daniel W., Cunningham, Julie M., Despierre, Evelyn, Doherty, Jennifer A., Doerk, Thilo ... Risch, Harvey A. (2011). The role of KRAS rs61764370 in invasive epithelial ovarian cancer: Implications for clinical testing. Clinical Cancer Research, 17 (11), 3742-3750. doi: 10.1158/1078-0432.CCR-10-3405
O'Dushlaine, C., Kenny, Elaine, Heron, E., Donohoe, G., Gill, Michael, Morris, Derek W., Corvin, Aiden, O'Dushlaine, Colm T., Quinn, Emma M., O'Donovan, Michael C., Kirov, George K., Craddock, Nick J., Holmans, Peter A., Williams, Nigel M., Georgieva, Lucy, Nikolov, Ivan, Norton, N., Williams, H., Toncheva, Draga, Milanova, Vihra, Owen, Michael J., Hultman, Christina M., Lichtenstein, Paul, Thelander, Emma F., Sullivan, Patrick, McQuillin, Andrew, Choudhury, Khalid, Datta, Susmita, Pimm, Jonathan ... The International Schizophrenia Consortium (2011). Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Molecular Psychiatry, 16 (3), 286-292. doi: 10.1038/mp.2010.7
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
Painter, JN, Anderson, CA, Nyholt, DR, Macgregor, S, Lin, JH, Lee, SH, Lambert, A, Zhao, ZZ, Roseman, F, Guo, Q, Gordon, SD, Wallace, L, Henders, AK, Visscher, PM, Kraft, P, Martin, NG, Morris, AP, Treloar, SA, Kennedy, SH, Missmer, SA, Montgomery, GW and Zondervan, KT (2011). Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics, 43 (1), 51-54. doi: 10.1038/ng.731
Thorleifsson, Gudmar, Walters, G. Bragi, Hewitt, Alex W., Masson, Gisli, Helgason, Agnar, DeWan, Andrew, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Gudjonsson, Sigurjon A., Magnusson, Kristinn P., Stefansson, Hreinn, Lam, Dennis S. C., Tam, Pancy O. S., Gudmundsdottir, Gudrun J., Southgate, Laura, Burdon, Kathryn P., Gottfredsdottir, Maria Soffia, Aldred, Micheala A., Mitchell, Paul, St Clair, David, Collier, David A., Tang, Nelson, Sveinsson, Orn, Macgregor, Stuart, Martin, Nicholas G., Cree, Angela J., Gibson, Jane, MacLeod, Alex, Jacob, Aby ... Stefansson, Kari (2010). Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nature Genetics, 42 (10), 906-910. doi: 10.1038/ng.661
Hysi, Pirro G., Young, Terri L., Mackey, David A., Andrew, Toby, Fernandez-Medarde, Alberto, Solouki, Abbas M., Hewitt, Alex W., Macgregor, Stuart, Vingerling, Johannes R., Li, Yi-Ju, Ikram, M. Kamran, Fai, Lee Yiu, Sham, Pak C., Manyes, Lara, Porteros, Angel, Lopes, Margarida C., Carbonaro, Francis, Fahy, Samantha J., Martin, Nicholas G., van Diujn, Cornelia M., Spector, Timothy D., Rahi, Jugnoo S., Santos, Eugenio, Klaver, Caroline C. W. and Hammond, Christopher J. (2010). A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nature Genetics, 42 (10), 902-905. doi: 10.1038/ng.664
Ikram, M. Kamran, Sim, Xueling, Jensen, Richard A., Cotch, Mary Frances, Hewitt, Alex W., Ikram, M. Arfan, Wang, Jie Jin, Klein, Ronald, Klein, Barbara E. K., Breteler, Monique M. B., Cheung, Ning, Liew, Gerald, Mitchell, Paul, Uitterlinden, Andrew G., Rivadeneira, Fernando, Hofman, Albert, de Jong, Paulus T. V. M., van Kuijn, Cornelia M., Kao, Linda, Cheng, Ching-Yu, Smith, Albert Vernon, Glazer, Nicole L., Lumley, Thomas, McKnight, Barbara, Psaty, Bruce M., Jonasson, Fridbert, Eiriksdottir, Gudny, Aspelund, Thor, Global BPgen Consortium ... Wong, Tien Y. (2010). Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genetics, 6 (10) e1001184, 1-12. doi: 10.1371/journal.pgen.1001184
Macgregor, Stuart, Hewitt, Alex W., Hysi, Pirro G., Ruddle, Jonathan B., Medland, Sarah E., Henders, Anjali K., Gordon, Scott D., Andrew, Toby, McEvoy, Brian, Sanfilippo, Paul G., Carbonaro, Francis, Tah, Vikas, Li, Yi Ju, Bennett, Sonya L., Craig, Jamie E., Montgomery, Grant W., Tran-Viet, Khanh-Nhat, Brown, Nadean L., Spector, Timothy D., Martin, Nicholas G., Young, Terri L., Hammond, Christopher J. and Mackey, David A. (2010). Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Human Molecular Genetics, 19 (13) ddq144, 2716-2724. doi: 10.1093/hmg/ddq144
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) ARTN e1001016, e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016
Lu, Yi, Dimasi, David P., Hysi, Pirro G., Hewitt, Alex W., Burdon, Kathryn P., Toh, Tze'Yo, Ruddle, Jonathan B., Li, Yi Ju, Mitchell, Paul, Healey, Paul R., Montgomery, Grant W., Hansell, Narelle, Spector, Timothy D., Martin, Nicholas G., Young, Terri L., Hammond. Christopher J., Macgregor, Stuart, Craig, Jamie E. and Mackey, David A. (2010). Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genetics, 6 (5) ARTN e1000947, e1000947.1-e1000947.10. doi: 10.1371/journal.pgen.1000947
Lind, Penelope A., Macgregor, Stuart, Vink, Jacqueline M., Pergadia, Michele L., Hansell, Narelle K., de Moor, Marleen H. M., Smit, August B., Hottenga, Jouke-Jan, Richter, Melinda M., Heath, Andrew C., Martin, Nicholas G., Willemsen, Gonneke, de Geus, Eco J. C., Vogelzangs,Nicole, Penninx, Brenda W., Whitfield, John B., Montgomery, Grant W., Boomsma, Dorret I. and Madden, Pamela A. F. (2010). A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Twin Research And Human Genetics, 13 (1), 10-29. doi: 10.1375/twin.13.1.10
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
Jamie E. Craig, Alex W. Hewitt, Amy E. McMellon, Anjali K. Henders, Lingjun Ma, Leanne Wallace, Shiwani Sharma, Kathryn P. Burdon, Peter M. Visscher, Grant W. Montgomery and Stuart MacGregor (2009). Rapid inexpensive genome-wide association using pooled whole blood. Genome Research, 19 (11), 2075-2080. doi: 10.1101/gr.094680.109
Stuart Macgregor, Penelope A. Lind, Kathleen K. Bucholz, Narelle K. Hansell, Pamela A.F. Madden, Melinda M. Richter, Grant W. Montgomery, Nicholas G. Martin, Andrew C. Heath and John B. Whitfield (2009). Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Human Molecular Genetics, 18 (3), 580-593. doi: 10.1093/hmg/ddn372
Zietsch, Brendan P., Morley, Katherine I., Shekar, Sri N., Verweij, Karin J. H., Keller, Matthew C., Macgregor, Stuart, Wright, Margaret J., Bailey, J. Michael and Martin, Nicholas G. (2008). Genetic factors predisposing to homosexuality may increase mating success in heterosexuals. Evolution and Human Behavior, 29 (6), 424-433. doi: 10.1016/j.evolhumbehav.2009.07.002
Lind, Penelope A., Macgregor, Stuart, Agrawal, Arpana, Montgomery, Grant W., Heath, Andrew C., Martin, Nicholas G. and Whitfield, John B. (2008). The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample. Alcoholism: Clinical and Experimental Research, 32 (10), 1721-1731. doi: 10.1111/j.1530-0277.2008.00768.x
Stone, Jennifer L., O'Donovan, Michael C., Gurling, Hugh, Kirov, George K., Blackwood, Douglas H. R., Corvin, Aiden, Craddock, Nick J., Gill, Michael, Hultman, Christina M., Lichtenstein, Paul, McQuillin, Andrew, Pato, Carlos N., Ruderfer, Douglas M., Owen, Michael J., St Clair, David, Sullivan, Patrick F., Sklar, Pamela, Purcell, Shaun M., Scolnick, E. M., Holmans, P. A., Georgieva, L., Nikolov, I., Norton, N., Williams, H., Williams, N. M., Toncheva, D., Milanova, V., Thelander, E. F., Morris, D. W. ... Sklar, P. (2008). Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455 (7210), 237-241. doi: 10.1038/nature07239
Brown, K. M., MacGregor, S., Montgomery, G. W., Craig, D. W., Zhao, Z. Z., Iyadurai, K., Henders, A. K., Homer, N., Campbell, M. J., Stark, M., Thomas, S., Schmid, H., Maskiell, J. A., Jetann, J., Ferguson, M., Stephan, D. A., Cust, A. E., Whiteman, D. C., Green, A., Olsson, H., Puig, S., Ghiorzo, P., Hansson, J., Demenais, F., Goldstein, A. M., Gruis, N. A., Elder, D. E., Newton Bishop, J., Kefford, R. F. ... Hayward, N. (2008). Common sequence variants on 20q11.22 confer melanoma susceptibility. Nature Genetics, 40 (7), 838-840. doi: 10.1038/ng.163
Radka Kaneva, Vihra Milanova, Dora Angelicheva, Stuart MacGregor, Christian Kostov, Rositza Vladimirova, Spiridon Aleksiev, Mina Angelova, Vessela Stoyanova, Angeline Loh, Joachim Hallmayer, Luba Kalaydjieva and Assen Jablensky (2008). Bipolar disorder in the Bulgarian Gypsies: Genetic heterogeneity in a young founder population. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 150b (2), 191-201. doi: 10.1002/ajmg.b.30775
Visscher, Peter M., Macgregor, Stuart, Benyamin, Beben, Zhu, Gu, Gordon, Scott, Medland, Sarah, Hill, William G., Hottenga, Jouke-Jan, Willemsen, Gonneke, Boomsma, Dorret I., Liu, Yao-Zhong, Deng, Hong-Wen, Montgomery, Grant W. and Martin, Nicholas G. (2007). Genome partitioning of genetic variation for height from 11,214 sibling pairs. American Journal of Human Genetics, 81 (5), 1104-1110. doi: 10.1086/522934
Macgregor, Stuart, Cornes, Belinda K., Martin, Nicholas G. and Visscher, Peter M. (2006). Bias, precision and heritability of self-reported and clinically measured height in Australian twins. Human Genetics, 120 (4), 571-580. doi: 10.1007/s00439-006-0240-z
Conference Paper
Mortlock, Sally, Lawrenson, Kate, Gayther, Simon, Macgregor, Stuart, Pharoah, Paul, Montgomery, Grant and Kar, Siddhartha (2020). Genetic Relationship Between Endometriosis and Ovarian Cancer Subtypes. 67th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Vancouver, Canada, 10-14 March 2020. Heidelberg, Germany: Springer.