Journal Articles
Bassal, Mahmoud A., Samaraweera, Saumya E., Lim, Kelly, Bernard, Brooks A., Bailey, Sheree, Kaur, Satinder, Leo, Paul, Toubia, John, Thompson-Peach, Chloe, Nguyen, Tran, Maung, Kyaw Ze Ya, Casolari, Debora A., Iarossi, Diana G., Pagani, Ilaria S., Powell, Jason, Pitson, Stuart, Natera, Siria, Roessner, Ute, Lewis, Ian D., Brown, Anna L., Tenen, Daniel G., Robinson, Nirmal, Ross, David M., Majeti, Ravindra, Gonda, Thomas J., Thomas, Daniel and D'Andrea, Richard J. (2022). Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia. Nature Communications, 13 (1) 2614, 1-12. doi: 10.1038/s41467-022-30223-9
Samaraweera, Saumya E, Wang, Paul Po-Shen, Li, Ka Leung, Casolari, Debora A., Feng, Jinghua, Pinese, Mark, Maung, Kyaw Ze Ya, Leo, Paul James, Cowley, Mark J., Perkins, Kelly, Smith, Amanda M., Ellis, Jonathan, Wee, Amilia, Hiwase, Devendra K., Scott, Hamish S., Schreiber, Andreas W., Brown, Anna L., Deans, Andrew J., Ross, David M., Moore, Andrew S., Gonda, Thomas, Hahn, Christopher N. and D'Andrea, Richard J. (2021). Childhood acute myeloid leukemia shows a high level of germline predisposition. Blood, 138 (22), 2293-2298. doi: 10.1182/blood.2021012666
Brown, Matthew A. and Leo, Paul J. (2019). Genetic susceptibility to cervical neoplasia. Papillomavirus Research, 7, 132-134. doi: 10.1016/j.pvr.2019.04.002
Gorvin, Caroline M., Ahmad, Bushra N., Stechman, Michael J., Loh, Nellie Y., Hough, Tertius A., Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E., Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T., Wells, Sara, Simon, Michelle M., Mallon, Ann-Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A., Cox, Roger D., Brown, Steve D. and Thakker, Rajesh V. (2019). An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. Journal of Bone and Mineral Research, 34 (3), 497-507. doi: 10.1002/jbmr.3624
Maung, Kyaw Ze Ya, Leo, Paul J., Bassal, Mahmoud, Casolari, Debora A., Gray, James X., Bray, Sarah C., Pederson, Stephen, Singhal, Deepak, Samaraweera, Saumya E., Nguyen, Tran, Cildir, Gökhan, Marshall, Mhairi, Ewing, Adam, Duncan, Emma L., Brown, Matthew A., Saal, Russell, Tergaonkar, Vinay, To, Luen Bik, Marlton, Paula, Gill, Devinder, Lewis, Ian, Deans, Andrew J., Brown, Anna L., D’Andrea, Richard J. and Gonda, Thomas J. (2018). Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. Blood Cancer Journal, 8 (6) 50, 50. doi: 10.1038/s41408-018-0090-7
Gratten, Jacob, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul J., Mangelsdorf, Marie, Anderson, Lisa, Zhang, Zong-Hong, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Edson, Janette, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jin, Zi-Bing, Li, Zhongshan, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, Mowry, Bryan J., Ran, Shu, Reutens, David C., Song, Sharon, Tan, Li-Jun, Tang, Lu, Wallace, Robyn H. ... Fan, Dongsheng (2017). Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome Medicine, 9 (97) 97, 97. doi: 10.1186/s13073-017-0487-0
Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1
Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Lynn, David J., Burdon, Kathryn P. and Craig, Jamie E. (2017). Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. PLoS One, 12 (3) e0172427, e0172427. doi: 10.1371/journal.pone.0172427
Thomas, G., Willner, D., Robinson, P., Cortes, A., Duan, R., Rudwaleit, M., Akkoc, N., Braun, J., Chou, C., Maksymowych, W., Ozgocmen, S., Roussou, E., Sieper, J., Valle-Onate, R., van der Heijde, D., Wei, J., Leo, P. and Brown, M. (2017). Genetic diagnostic profiling in axial spondyloarthritis: a real-world study. Clinical and Experimental Rheumatology, 35 (2), 229-233.
Zhou, Tiger, Souzeau, Emmanuelle, Siggs, Owen M., Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R. , Graham, Stuart, Hewitt, Alex W, Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., Macgregor, Stuart, Sharma, Shiwani, Burdon, Kathryn P. and Craig, Jamie E. (2017). Contribution of mutations in known Mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma. Investigative Ophthalmology & Visual Science, 58 (3), 1537-1544. doi: 10.1167/iovs.16-21049
Zhou, Tiger, Souzea, Emmanuelle, Sharma, Shiwani, Siggs, Owen M., Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Casson, Robert J., Landers, John, Mills, Richard, Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Burdon, Kathryn P. and Craig, Jamie E. (2016). Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma. Molecular Genetics and Genomic Medicine, 4 (6), 624-633. doi: 10.1002/mgg3.248
Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C. M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O. M., Brown, Matthew A., Duncan, Emma L., Markie, David M. and Robertson, Stephen P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99 (2), 392-406. doi: 10.1016/j.ajhg.2016.05.024
Mcinerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2016). Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 (7), 695-702. doi: 10.1002/humu.22994
Cortes, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondon Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas and Wicking, Carol (2016). Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6 (1) 24083, 24083. doi: 10.1038/srep24083
McInerney-Leo, Aideen M., Goff, Carine Le, Leo, Paul J., Kenna, Tony J., Keith, Patricia, Harris, Jessica E., Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A., Zankl, Andreas, Duncan, Emma L. and Cormier-Daire, Valerie (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53 (7), 457-464. doi: 10.1136/jmedgenet-2015-103647
Niu, Tianhua, Liu, Ning, Yu, Xun, Zhao, Ming, Choi, Hyung Jin, Leo, Paul J., Brown, Matthew A., Zhang, Lei, Pei, Yu-Fang, Shen, Hui, He, Hao, Fu, Xiaoying, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Cho, Nam H., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J., Duncan, Emma L. ... Deng, Hong-Wen (2016). Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies. Journal of Bone and Mineral Research, 31 (2), 358-368. doi: 10.1002/jbmr.2687
Robinson, P. C., Leo, P. J., Pointon, J. J., Harris, J., Cremin, K., Bradbury, L. A., Wellcome Trust Case Control Consortium, Australasian Osteoporosis Genetics Consortium (AOGC), Stebbings, S., Harrison, A. A., Evans, D. M., Duncan, E. L., Wordsworth, B. P. and Brown, M. A. (2016). The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes and Immunity, 17 (1), 46-51. doi: 10.1038/gene.2015.49
Reppe, Sjur, Wang, Yunpeng, Thompson, Wesley K., McEvoy, Linda K., Schork, Andrew J., Zuber, Verena, LeBlanc, Marissa, Bettella, Francesco, Mills, Ian G., Desikan, Rahul S., Djurovic, Srdjan, Gautvik, Kaare M., Dale, Anders M., Andreassen, Ole A., GEFOS Consortium, Willner, Dana, Duncan, Emma L, Leo, Paul J., Clark, Graeme R, Danoy, Patrick, Nicholson, Geoffrey C and Brown, Matthew A. (2015). Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci. PLoS ONE, 10 (12) e0144531, 0144531.1-0144531.20. doi: 10.1371/journal.pone.0144531
Gabrielli, Brian, Bokhari, Fawzi, Ranall, Max V., Oo, Zay Yar, Stevenson, Alexander J., Wang, Weili, Murrell, Melanie, Shaikh, Mushfiq, Fallaha, Sora, Clarke, Daniel, Kelly, Madison, Sedelies, Karin, Christensen, Melinda, McKee, Sara, Leggatt, Graham, Leo, Paul, Skalamera, Dubravka, Soyer, H. Peter, Gonda, Thomas J. and McMillan, Nigel A. J. (2015). Aurora A is critical for survival in HPV-transformed cervical cancer. Molecular Cancer Therapeutics, 14 (12), 2753-2761. doi: 10.1158/1535-7163.MCT-15-0506
Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J., Dahia, Chitra L., Park-Min, Kyung Hyun, Tobias, Jonathan H., Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S., Nielson, Carrie M., Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui ... UK10K Consortium (2015). Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526 (7571), 112-117. doi: 10.1038/nature14878
van de Bunt, Martijn, Cortes, Adrian, Brown, Matthew A., Morris, Andrew P., McCarthy, Mark I., IGAS Consortium, Hadler, Johanna, Robinson, Philip C., Leo, Paul, Cremin, Katie, Pryce, Karena, Harris, Jessica, Bradbury, Linda A., Kenna, Tony J. and Yang, Jian (2015). Evaluating the performance of fine-mapping strategies at common variant GWAS Loci. PL o S Genetics, 11 (9) e1005535, 1-14. doi: 10.1371/journal.pgen.1005535
Williams, Kelly L., McCann, Emily P., Fifita, Jennifer A., Zhang, Katharine., Duncan, Emma L., Leo, Paul J., Marshall, Mhairi., Rowe, Dominic B., Nicholson, Garth A. and Blair, Ian P. (2015). Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiology of Aging, 36 (12) 3334.e1, 3334.e1-3334.e5. doi: 10.1016/j.neurobiolaging.2015.08.013
Niu, Tianhua, Liu, Ning, Zhao, Ming, Xie, Guie, Zhang, Lei, Li, Jian, Pei, Yu-Fang, Shen, Hui, Fu, Xiaoying, He, Hao, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Leo, Paul J., Duncan, Emma L., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Hu, Xiang, Das, Partha M., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J. ... Deng, Hong-Wen (2015). Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies. Human Molecular Genetics, 24 (16) ddv144, 4710-4727. doi: 10.1093/hmg/ddv144
Robinson, Philip C., Costello, Mary-Ellen, Leo, Paul, Bradbury, Linda A., Hollis, Kelly, Cortes, Adrian, Lee, Seunghun, Joo, Kyung Bin, Shim, Seung-Cheol, Weisman, Michael, Ward, Michael, Zhou, Xiaodong, Garchon, Henri-Jean, Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Forre, Oystein, Tuomilehto, Jaakko, Laiho, Kari, Jiang, Lei, Liu, Yu, Wu, Xin, Elewaut, Dirk, Burgos-Vargas, Ruben, Gensler, Lianne S., Stebbings, Simon, Haroon, Nigil, Mulero, Juan, Luis Fernandez-Sueiro, Jose ... Brown, Matthew A. (2015). ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients. Annals of the Rheumatic Diseases, 74 (8), 1627-1629. doi: 10.1136/annrheumdis-2015-207416
He, Ji, Tang, Lu, Benyamin, Beben, Shah, Sonia, Hemani, Gib, Liu, Rong, Ye, Shan, Liu, Xiaolu, Ma, Yan, Zhang, Huagang, Cremin, Katie, Leo, Paul, Wray, Naomi R., Visscher, Peter M., Xu, Huji, Brown, Matthew A., Bartlett, Perry F., Mangelsdorf, Marie and Fan, Dongsheng (2015). C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 36 (9) 2660.e1, 2660.e1-2660.e8. doi: 10.1016/j.neurobiolaging.2015.06.002
Cortes, Adrian, Pulit, Sara L., Leo, Paul J., Pointon, Jenny J., Robinson, Philip C., Weisman, Michael H., Ward, Michael, Gensler, Lianne S., Zhou, Xiaodong, Garchon, Henri-J., Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Forre, Oystein, Tuomilehto, Jaakko, Laiho, Kari, Bradbury, Linda A., Elewaut, Dirk, Burgos-Vargas, Ruben, Stebbings, Simon, Appleton, Louise, Farrah, Claire, Lau, Jonathan, Haroon, Nigil, Mulero, Juan, Blanco, Francisco J., Gonzalez-Gay, Miguel A., Lopez-Larrea, C., Bowness, Paul ... Brown, Matthew A. (2015). Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nature Communications, 6 (7146) 7146, 1-8. doi: 10.1038/ncomms8146
Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R. Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M., Chan, Anita S. Y., Lee, Mei Chin, Burdon, Kathryn P., Astakhov, Yury S., Abu-Amero, Khaled K., Zenteno, Juan C., Nilguen, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Abu Safieh, Leen, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G., Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko ... Khor, Chiea-Chuen (2015). A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nature Genetics, 47 (4), 387-392. doi: 10.1038/ng.3226
McInerney-Leo, Aideen, Sparrow, Duncan B., Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria C., Shi, Hongjun, Brown, Matthew A., Leo, Paul, Zankl, Andreas, Dunwoodie, Sally L. and Duncan, Emma (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24 (5), 1234-1242. doi: 10.1093/hmg/ddu534
McInerney-Leo, Aideen, Harris, Jessica E., Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, Esther, Leong, Huey Yin, McKenzie, Fiona, Ong, PeiTee, Vodopiutz, Julia, Wicking, Carol A., Brown, Matthew A., Zanki, Andreas and Duncan, Emma (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88 (6), 550-557. doi: 10.1111/cge.12550
Robinson, Philip C., Claushuis, Theodora A. M., Cortes, Adrian, Martin, Tammy M., Evans, David M., Leo, Paul, Mukhopadhyay, Pamela, Bradbury, Linda A., Cremin, Katie, Harris, Jessica, Maksymowych, Walter P., Inman, Robert D., Rahman, Proton, Haroon, Nigil, Gensler, Lianne, Powell, Joseph E., Van Der Horst-Bruinsma, Irene E., Hewitt, Alex W., Craig, Jamie E., Lim, Lyndell L., Wakefield, Denis, McCluskey, Peter, Voigt, Valentina, Fleming, Peter, Spondyloarthritis Research Consortium of Canada, Australio-Anglo-American Spondylitis Consortium, International Genetics of Ankylosing Spondylitis Consortium, Wellcome Trust Case Control Study 2, Degli-Esposti, Mariapia ... Brown, Matthew A. (2015). Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis. Arthritis and Rheumatology, 67 (1), 140-151. doi: 10.1002/art.38873
Hysi, Pirro G., Cheng, Ching-Yu, Springelkamp, Henriet, Macgregor, Stuart, Bailey, Jessica N. Cooke, Wojciechowski, Robert, Vitart, Veronique, Nag, Abhishek, Hewitt, Alex W., Hohn, Rene, Venturini, Cristina, Mirshahi, Alireza, Ramdas, Wishal D., Thorleifsson, Gudmar, Vithana, Eranga, Khor, Chiea-Chuen, Stefansson, Arni B., Liao, Jiemin, Haines, Jonathan L., Amin, Najaf, Wang, Ya Xing, Wild, Philipp S., Ozel, Ayse B., Li, Jun Z., Fleck, Brian W., Zeller, Tanja, Staffieri, Sandra E., Teo, Yik-Ying, Cuellar-Partida, Gabriel ... Aung, Tin (2014). Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nature Genetics, 46 (10), 1126-1130. doi: 10.1038/ng.3087
McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., Clark, G. R., Brown, M. A. and Zankl, A. (2014). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?. Clinical Genetics, 88 (1), 49-55. doi: 10.1111/cge.12440
Moayyeri, Alireza, Hsu, Yi-Hsiang, Karasik, David, Estrada, Karol, Xiao, Su-Mei, Nielson, Carrie, Srikanth, Priya, Giroux, Sylvie, Wilson, Scott G., Zheng, Hou-Feng, Smith, Albert V., Pye, Stephen R., Leo, Paul J., Teumer, Alexander, Hwang, Joo-Yeon, Ohlsson, Claes, McGuigan, Fiona, Minster, Ryan L., Hayward, Caroline, Olmos, Jose M., Lyytikainen, Leo-Pekka, Lewis, Joshua R., Swart, Karin M. A., Masi, Laura, Oldmeadow, Chris, Holliday, Elizabeth G., Cheng, Sulin, van Schoor, Natasja M., Harvey, Nicholas C. ... Kaptoge, Stephen K. (2014). Genetic determinants of heel bone properties: Genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Human Molecular Genetics, 23 (11) ddt675, 3054-3068. doi: 10.1093/hmg/ddt675
Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien and Brown, Matthew A. (2014). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB (vol 90, pg 494, 2012). American Journal of Human Genetics, 94 (4), 643-643. doi: 10.1016/j.ajhg.2012.03.019
Zhang, Lei, Choi, Hyung Jin, Estrada, Karol, Leo, Paul J., Li, Jian, Pei, Yu-Fang, Zhang, Yinping, Lin, Yong, Shen, Hui, Liu, Yao-Zhong, Liu, Yongjun, Zhao, Yingchun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-ping, Han, Yingying, Ran, Shu, Hai, Rong, Zhu, Xue-Zhen, Wu, Shuyan, Yan, Han, Liu, Xiaogang, Yang, Tie-Lin, Guo, Yan, Zhang, Feng, Guo, Yan-fang, Chen, Yuan, Chen, Xiangding, Tan, Lijun ... Deng, Hong-Wen (2014). Multi-stage genome-wide association meta-analyses identified two new loci for bone mineral density. Human Molecular Genetics, 23 (7), 1923-1933. doi: 10.1093/hmg/ddt575
McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Benn, Diana E., McFarlane, Janelle, Robinson, Bruce G., Brown, Matthew A., Leo, Paul J., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2014). Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80 (1), 25-33. doi: 10.1111/cen.12331
Cremin, K., Leo, P., Harris, J. E., De Smit, E., Bradbury, L., McKelvie, P., Hill, C. L., Brown, M. A. and Hewitt, A. W. (2014). Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis. Genes and Immunity, 15 (5), 338-340. doi: 10.1038/gene.2014.19
Zochling, Jane, Newell, Felicity, Charlesworth, Jac C., Leo, Paul, Stankovich, Jim, Cortes, Adrian, Zhou, Yuan, Stevens, Wendy, Sahhar, Joanne, Roddy, Janet, Nash, Peter, Tymms, Kathleen, Rischmueller, Maureen, Lester, Sue, Proudman, Susanna and Brown, Matthew A. (2014). An immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3. Arthritis Research & Therapy, 16 (5) 438, 1-7. doi: 10.1186/s13075-014-0438-8
McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013). Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 (456), 1-9. doi: 10.1038/bonekey.2013.190
Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J. ... Mitchison, Hannah M. (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 (5), 932-944. doi: 10.1016/j.ajhg.2013.10.003
Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei ... Hildebrandt, Friedhelm (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 (5), 915-925. doi: 10.1016/j.ajhg.2013.09.012
McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scrambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol and UK10K Consortium (2013). Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93 (3), 515-523. doi: 10.1016/j.ajhg.2013.06.022
Cortes, Adrian, Hadler, Johanna, Pointon, Jenny P., Robinson, Philip C., Karaderi, Tugce, Leo, Paul, Cremin, Katie, Pryce, Karena, Harris, Jessica, Lee, Seunghun, Joo, Kyung Bin, Shim, Seung-Cheol, Weisman, Michael, Ward, Michael, Zhou, Xiaodong, Garchon, Henri-Jean, Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Førre, Øystein, Tuomilehto, Jaakko, Laiho, Kari, Jiang, Lei, Liu, Yu, Wu, Xin, Bradbury, Linda A., Elewaut, Dirk, Burgos-Vargas, Ruben, Stebbings, Simon ... Wellcome Trust Case Control Consortium 2 (WTCCC2) (2013). Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45 (7), 730-740. doi: 10.1038/ng.2667
Zheng, Hou-Feng, Duncan, Emma L., Yerges-Armstrong, Laura M., Eriksson, Joel, Bergström, Ulrica, Leo, Paul J., Leslie, William D., Goltzman, David, Blangero, John, Hanley, David A., Carless, Melanie A., Streeten, Elizabeth A., Lorentzon, Mattias, Brown, Matthew A., Spector, Tim D., Pettersson-Kymmer, Ulrika, Ohlsson, Claes, Mitchell, Braxton D. and Richards, J. Brent (2013). Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. Journal of Medical Genetics, 50 (7), 473-478. doi: 10.1136/jmedgenet-2012-101287
Sparrow, Duncan B., McInerney-Leo, Aideen, Gucev, Zoran S., Gardiner, Brooke, Marshall, Mhairi, Leo, Paul J., Chapman, Deborah L., Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew A., Duncan, Emma L. and Dunwoodie, Sally L. (2013). Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 (8), 1625-1631. doi: 10.1093/hmg/ddt012
Brooks, K., Oakes, V., Edwards, B., Ranall, M., Leo, P., Pavey, S., Pinder, A., Beamish, H., Mukhopadhyay, P., Lambie, D. and Gabrielli, B. (2013). A potent Chk1 inhibitor is selectively cytotoxic in melanomas with high levels of replicative stress. Oncogene, 32 (6), 788-796. doi: 10.1038/onc.2012.72
Waddell, N., Stein, S. R., Wagner, S. A., Bennett, I., Djougarian, A., Melana, S., Jaffer, S., Holland, J. F., Pogo, B. G. T., Gonda, T. J., Brown, M. A., Leo, P., Saunders, N. A., McMillan, N. A., Cocciardi, S., Vargas, A. C., Lakhani, S. R., Chenevix-Trench, G., Newman, B. and Francis, G. D. (2012). Morphological and molecular analysis of a breast cancer cluster at the ABC Studio in Toowong. Pathology, 44 (5), 469-472. doi: 10.1097/PAT.0b013e3283559e67
Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville ... Rivadeneira, Fernando (2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44 (5), 491-501. doi: 10.1038/ng.2249
Andreas Zankl, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitche, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terha, Paulien and Brown, Matthew A. (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90 (3), 494-501. doi: 10.1016/j.ajhg.2012.01.003
Burdon, Kathryn P., Macgregor, Stuart, Hewitt, Alex W., Sharma, Shiwani, Chidlow, Glyn, Mills, Richard A., Danoy, Patrick, Casson, Robert, Viswanathan, Ananth C., Liu, Jimmy Z., Landers, John, Henders, Anjali K., Wood, John, Souzeau, Emmanuelle, Crawford, April, Leo, Paul, Wang, Jie Jin, Rochtchina, Elena, Nyholt, Dale R., Martin, Nicholas G., Montgomery, Grant W., Mitchell, Paul, Brown, Matthew A., Mackey, David A. and Craig, Jamie E. (2011). Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nature Genetics, 43 (6), 574-578. doi: 10.1038/ng.824
Zhao, Liang, Glazov, Evgeny, Diwakar Ram Pattabiraman, Al-Owaidi, Faisal, Ping Zhang, Brown, Matthew A., Paul Leo and Gonda, Thomas J. (2011). Integrated genome-wide chromatin occupancy and expression analyses identify key myeloid pro-differentiation transcription factors repressed by Myb. Nucleic Acids Research, 39 (11), 4664-4679. doi: 10.1093/nar/gkr024
Škalamera, Dubravka, Ranall, Max V., Wilson, Benjamin M., Leo, Paul, Purdon, Amy S., Hyde, Carolyn, Nourbakhsh, Ehsan, Grimmond, Sean M., Barry, Simon C., Gabrielli, Brian and Gonda, Thomas J. (2011). A high-throughput platform for lentiviral overexpression screening of the human ORFeome. PLoS One, 6 (5) e20057, e20057.1-e20057.14. doi: 10.1371/journal.pone.0020057
Duncan, Emma L., Danoy, Patrick, Kemp, John P., Leo, Paul J., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Reid, Ian R., Dennison, Elaine M., Wark, John, Richards, J. Brent, Uitterlinden, Andre G., Spector, Tim D., Esapa, Chris, Cox, Roger D., Brown, Steve D. M., Thakker, Rajesh V., Addison, Kathryn A., Bradbury, Linda A., Center, Jacqueline R., Cooper, Cyrus, Cremin, Catherine, Estrada, Karol, Felsenberg, Dieter, Glueer, Claus-C. ... Brown, Matthew A. (2011). Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7 (4) e1001372, e1001372.1-e1001372.10. doi: 10.1371/journal.pgen.1001372
Cameron, Sarina R., Dahler, Alison L., Endo-Munoz, Liliana B., Jabbar, Ibtissam, Thomas, Gethin P., Leo, Paul J., Poth, Kim, Rickwood, Danny, Guminski, Alexander and Saunders, Nicholas A. (2010). Tumor-initiating activity and tumor morphology of HNSCC is modulated by interactions between clonal variants within the tumor. Laboratory Investigation, 90 (11), 1594-1603. doi: 10.1038/labinvest.2010.131
Duan, Ran, Leo, Paul, Bradbury, Linda, Brown, Matthew and Thomas, Gethin (2010). Gene expression profiling reveals a down-regulation in immune-associated genes in AS patients. Annals of the Rheumatic Diseases, 69 (9), 1724-1729. doi: 10.1136/ard.2009.111690
Poth, Kim J., Guminski, Alexander D., Thomas, Gethin P., Leo, Paul J., Jabbar, Ibtissam A. and Saunders, Nicholas A. (2010). Cisplatin treatment induces a transient increase in tumorigenic potential associated with high interleukin-6 expression in head and neck squamous cell carcinoma. Molecular Cancer Therapeutics, 9 (8), 2430-2439. doi: 10.1158/1535-7163.MCT-10-0258
Reveille, John D., Sims, Anne-Marie, Danoy, Patrick, Evans, David M., Leo, Paul, Pointon, Jennifer J., Jin, Rui, Zhou, Xiaodong, Bradbury, Linda A., Appleton, Louise H., Davis, John C., Diekman, Laura, Doan, Tracey, Dowling, Alison, Duan, Ran, Duncan, Emma L., Farrar, Claire, Hadler, Johanna, Harvey, David, Karaderi, Tugce, Mogg, Rebecca, Pomeroy, Emma, Pryce, Karena, Taylor, Jacqueline, Savage, Laurie, Deloukas, Panos, Kumanduri, Vasudev, Peltonen, Leena, Ring, Sue M. ... Brown, Mathew A. (2010). Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics, 42 (2), 123-127. doi: 10.1038/ng.513
Cole, Nelson B., DiEuliis, Diane, Leo, Paul, Mitchell, Drake C. and Nussbaum, Robert L. (2008). Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification. Experimental Cell Research, 314 (10), 2076-2089. doi: 10.1016/j.yexcr.2008.03.012
Gonda, Thomas J., Leo, Paul and Ramsay, Robert G. (2008). Estrogen and MYB in breast cancer: Potential for new therapies. Expert Opinion On Biological Therapy, 8 (6), 713-717. doi: 10.1517/14712598.8.6.713
Antonellis, A, Lee-Lin, SQ, Wasterlain, A, Leo, P, Quezado, M, Goldfarb, LG, Myung, K, Burgess, S, Fischbeck, KH and Green, ED (2006). Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. Journal of Neuroscience, 26 (41), 10397-10406. doi: 10.1523/JNEUROSCI.1671-06.2006
Chin, Cheng, Vuletic, Vladan, Kerman, Andrew J., Chu, Steven, Tiesinga, Eite, Leo, Paul J. and Williams, Carl J. (2004). Precision Feshbach spectroscopy of ultracold Cs-2. Physical Review A, 70 (3) 032701, 032701-1-032701-13. doi: 10.1103/PhysRevA.70.032701
Leo, PJ, Gray, GR, Simer, GJ and Rochford, KB (2003). State of polarization changes: Classification and measurement. Journal of Lightwave Technology, 21 (10), 2189-2193. doi: 10.1109/JLT.2003.816813
Damask, JN, Gray, G, Leo, P, Simer, G, Rochford, K and Veasey, D (2003). Method to measure and estimate total outage probability for PMD-impaired systems. Ieee Photonics Technology Letters, 15 (1), 48-50. doi: 10.1109/LPT.2002.805861
Venturi, V., Leo, P. J., Tiesinga, E., Williams, C. J. and Whittingham, I. B. (2003). Purely-long-range bound states of He(2s S-3)+He(2p P-3). Physical Review A, 68 (2) 022706. doi: 10.1103/PhysRevA.68.022706
Peterson, Daniel L., Ward, Bryan C., Rochford, Kent B., Leo, Paul J. and Simer, Greg (2002). Polarization mode dispersion compensator field trial and field fiber characterization. Optics Express, 10 (14), 614-621.
Leo, PJ, Julienne, PS, Mies, FH and Williams, CJ (2001). Collisional frequency shifts in Cs-133 fountain clocks. Physical Review Letters, 86 (17), 3743-3746. doi: 10.1103/PhysRevLett.86.3743
Kerman, AJ, Chin, C, Vuletic, V, Chu, S, Leo, PJ, Williams, CJ and Julienne, PS (2001). Determination of Cs-Cs interaction parameters using Feshbach spectroscopy. Comptes Rendus De L Academie Des Sciences Serie Iv Physique Astrophysique, 2 (4), 633-639. doi: 10.1016/S1296-2147(01)01196-9
Leo, P. J., Venturi, V., Whittingham, I. B. and Babb, J. F. (2001). Ultracold collisions of metastable helium atoms. Physical Review A, 6404 (4) 042710. doi: 10.1103/PhysRevA.64.042710
Conference Papers
Robinson, P., Leo, P., Pointon, J., Harris, J., Cremin, K., Bradbury, L., Stebbings, S., Harrison, A., Duncan, E., Wordsworth, P. and Brown, M. (2015). Exomewide association study of ankylosing spondylitis identifies additional coding region genetic associations with as and strengthens evidence of shared genetic background with inflammatory bowel disease. Australian Rheumatology Associationin conjunction with Rheumatology Health Professionals Association, 56th Annual Scientific Meeting, Adelaide, South Australia, Australia, 23–26 May 2015. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/imj.12752
Gabrielli, Brian G., Bokhari, Fawzi, Ranall, Max, Oo, Zay Yar, Stevenson, Alex, Wang, Weili, McKee, Sara, Leggatt, Graham, Leo, Paul, Gonda, Thomas J. and McMillan, Nigel A. J. (2015). Abstract 945: synthetic lethal screen identifies Aurora A as a selective target in HPV driven cervical cancer. 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR), Philadelphia, PA United States, 18-22 April 2015. Philadelphia, PA United States: American Association for Cancer Research. doi: 10.1158/1538-7445.AM2015-945
Maung, Kyaw Zeya, Gray, James X., Leo, Paul J., Bassal, Mahmoud, Brown, Anna L., Bray, Sarah C., Tiong, Ing Soo, Kok, Chung H., Deans, Andrew, Marshall, Mhairi, Gardiner, Brooke, Glazov, Evgeny A., Marlton, Paula, Gill, Devinder, Bik, Luen, Lewis, Ian D., D'Andrea, Richard J. and Gonda, Thomas J. (2014). Whole Exome Sequencing of Acute Myeloid Leukaemia Patients Identifies Somatic and Germline Mutations in Fanconi Anaemia Genes. 56th Annual Meeting of the American Society of Hematology, San Francisco, CA United States, 06-09 December 2014. Washington, DC United States: American Society of Hematology.
Brown, Anna L., Sadras, Teresa, Engler, Grant A., Tunningley, Robert, Kofler, Jennifer, Leo, Paul J., Cheah, Jesse, Laskowski, Adrienne, Frazier, Ann, Stroud, David, Ryan, Michael, Thorburn, David, Gilliland, D. Gary, Lewis, Ian D., Gonda, Thomas J. and D'Andrea, Richard J. (2014). An ENU Mutagenesis Screen of FLT3-ITD Knock-in Mice Identifies Novel Gene Mutations That Lead to an Exacerbated Myeloproliferative Neoplasm. 56th Annual Meeting of the American Society of Hematology, San Francisco, CA United States, 06-09 December 2014. Washington, DC United States: American Society of Hematology.
Robinson, Philip, Claushuis, Dorith, Leo, Paul, Mukhopadhyay, Pamela, Wordsworth, P., Weisman, Michael H., Maksymowych, Walter P., Rahman, Proton, Inman, Robert, Hewitt, Alex, Martin, Tammy M., Rosenbaum, James T., Wakefield, Dennis, Reveille, John D. and Brown, Matthew A. (2013). Genetic Associations In Anterior Uveitis Implicate T-Cell Co-Stimulation and Other Immune Pathways. 77th Annual Meeting of the American College of Rheumatology / 48th Annual Meeting of the Association of Rheumatology Health Professionals, San Diego CA, United States, 25-30 October 2013 Proceedings title Abstract Supplement 2013 Annual Meeting. Hoboken, NJ United States: John Wiley and Sons. doi: 10.1002/art.38216
Zheng, Hou-Feng, Duncan, Emma, Eriksson, Joel, Bergstrom, Ulrica, Yerges-Armstrong, Laura M., Leo, Paul J., Vandenput, Liesbeth, Nicholson, Geoffrey, Ladouceur, Martin, Prince, Richard L., Leslie, William D., Eisman, John A., Goltzman, David, Jones, Graeme, Xiao, Yongjun, Liu, Jeff, Reid, Lanr, Sambrook, Philip N., Dennison, Elaine M., Danoy, Patrick, Wilson, Scott G., McCloskey, Eugene, Eastell, Richard, Spector, Tim, Mitchell, Braxton D., Streeten, Elizabeth A., Brommage, Robert, Lorentzon, Mattias, Pettersson, Ulrika ... Richards, J. Brent (2012). Wnt16 Is associated with bone mineral density, osteoporotic fracture and bone strength: a Large-Scale Meta-Analysis of Genomewide Association Studies. IOF-ECCEO European Congress on Osteoporosis and Osteoarthritis / 2nd IOF-ESCEO Pre-Clinical Symposium, Bordeaux France, 21-24 March 2012. London, United Kingdom: Springer U K. doi: 10.1007/s00198-012-1924-y
Zhang, Lei, Li, Jian, Pei, Yu-Fang, Lin, Yong, Shen, Hui, Estrada, Karol, Rivadeneira, Fernando, Guitterlinden, Andre, Shin, Chan Soo, Choi, Hyung Jin, Duncan, Emma L., Leo, Paul J., Brown, Matthew A., Liu, Yao-Zhong, Liu, Yongjun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-Ping, Zhu, Xue-Zhen, Wu, Shuyan, Papasian, Christopher J. and Deng, Hong-Wen (2012). Multi-stage genome-wide association meta-analyses identified gender-specific loci associated with bone mineral density. Ninth Annual NIH Interdisciplinary Women’s Health Research Symposium, Bethesda, MD, United States, 15 November 2012. New Rochelle, NY, United States: Mary Ann Liebert. doi: 10.1089/jwh.2012.ab02
McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, 12-15 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1445-5994.2012.02759.x
Robinson, Philip, Cortes, Adrian, Leo, Paul, Evans, David and Brown, Matthew A. (2012). Ankylosing spondylitis is associated with single nucleotide polymorphisms in loci implicating four aminopeptidases. Annual Scientific Meeting of the American-College-of-Rheumatology (ACR) and Association-of-Rheumatology-Health-Professionals (ARHP), Washington, DC, United States, 9-14 November 2012. Hoboken, NJ, United States: John Wiley & Sons. doi: 10.1002/art.37735