eCite Digital Repository

Author: Burdon, KP (Associate Professor Kathryn Burdon)

Number of items: 147

Journal Article
Souzeau, E and Rudkin, AK and Dubowsky, A and Casson, RJ and Muecke, JS and Mancel, E and Whiting, M and Mills, RAD and Burdon, KP and Craig, JE, PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia, Molecular Vision, 24 pp. 261-273. ISSN 1090-0535 (2018) [Refereed Article]
Meng, W and Shah, KP and Pollack, S and Toppila, I and Hebert, HL and McCarthy, MI and Groop, L and Ahlqvist, E and Lyssenko, V and Agardh, E and Daniell, M and Kaidonis, G and Craig, JE and Mitchell, P and Liew, G and Kifley, A and Wang, JJ and Christiansen, MW and Jensen, RA and Penman, A and Hancock, HA and Chen, CJ and Correa, A and Kuo, JZ and Li, X and Chen, Y-der I and Rotter, JI and Klein, R and Klein, B and Wong, TY and Morris, AD and Doney, ASF and Colhoun, HM and Price, AL and Burdon, KP and Groop, P-H and Sandholm, N and Grassi, MA and Sobrin, L and Palmer, CNA, Wellcome Trust Case Control Consortium 2 (WTCCC2), Surrogate markers for Micro- and Macro-vascular hard endpoints for Innovative diabetes Tools (SUMMIT) study group, A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes, Acta Ophthalmologica pp. 1-9. ISSN 1755-375X (2018) [Refereed Article] 
Gharahkhani, P and Burdon, KP and Cooke Bailey, JN and Hewitt, AW and Law, MH and Pasquale, LR and Kang, JH and Haines, JL and Souzeau, E and Zhou, T and Siggs, OM and Landers, J and Awadalla, M and Sharma, S and Mills, RA and Ridge, B and Lynn, D and Casson, R and Graham, SL and Goldberg, I and White, A and Healey, PR and Grigg, J and Lawlor, M and Mitchell, P and Ruddle, J and Coote, M and Walland, M and Best, S and Vincent, A and Gale, J and RadfordSmith, G and Whiteman, DC and Montgomery, GW and Martin, NG and Mackey, DA and Wiggs, JL and MacGregor, S and Craig, JE, & the NEIGHBORHOOD consortium, Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma, Scientific Reports, 8, (1) Article 3124. ISSN 2045-2322 (2018) [Refereed Article]
Iglesias, AI and Mishra, A and Vitart, V and Bykhovskaya, Y and Hohn, R and Springelkamp, H and Cuellar-Partida, G and Gharahkhani, P and Cooke Bailey, JN and Willoughby, CE and Li, X and Yazar, S and Nag, A and Khawaja, AP and Polasek, O and Siscovick, D and Mitchell, P and Tham, YC and Haines, JL and Kearns, LS and Hayward, C and Shi, Y and van Leeuwen, EM and Taylor, KD and Bonnemaijer, P and Rotter, JI and Martin, NG and Zeller, T and Mills, RA and Staffieri, SE and Jonas, JB and Schmidtmann, I and Boutin, T and Kang, JH and Lucas, SEM and Wong, TY and Beutel, ME and Wilson, JF and Uitterlinden, AG and Vithana, EN and Foster, PJ and Hysi, PG and Hewitt, AW and Khor, CC and Pasquale, LR and Montgomery, GW and Klaver, CCW and Aung, T and Pfeiffer, N and Mackey, DA and Hammond, CJ and Cheng, CY and Craig, JE and Rabinowitz, YS and Wiggs, JL and Burdon, KP and van Duijn, CM and MacGregor, S, Blue Mountains Eye Study—GWAS group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases, Nature Communications, 9, (1) Article 1864. ISSN 2041-1723 (2018) [Refereed Article]
Burdon, KP and Awadalla, MS and Mitchell, P and Wang, JJ and White, A and Keane, MC and Souzeau, E and Graham, SL and Goldberg, I and Healey, PR and Landers, J and Mills, RAD and Best, S and Hewitt, AW and Sharma, S and Craig, JE, DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma, Ophthalmic Genetics, 39, (2) pp. 221-227. ISSN 1381-6810 (2018) [Refereed Article]
Graham, PS and Kaidonis, G and Abhary, S and Gillies, MC and Daniell, M and Essex, RW and Chang, JH and Lake, SR and Pal, B and Jenkins, AJ and Hewitt, AW and Lamoureux, EL and Hykin, PG and Petrovsky, N and Brown, MA and Craig, JE and Burdon, KP, Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy, BMC Medical Genetics, 19, (1) Article 71. ISSN 1471-2350 (2018) [Refereed Article]
Shiga, Y and Akiyama, M and Nishiguchi, KM and Sato, K and Shimozawa, N and Takahashi, A and Momozawa, Y and Hirata, M and Matsuda, K and Yamaji, T and Iwasaki, M and Tsugane, S and Oze, I and Mikami, H and Naito, M and Wakai, K and Yoshikawa, M and Miyake, M and Yamashiro, K and Kashiwagi, K and Iwata, T and Mabuchi, F and Takamoto, M and Ozaki, M and Kawase, K and Aihara, M and Araie, M and Yamamoto, T and Kiuchi, Y and Nakamura, M and Ikeda, Y and Sonoda, KH and Ishibashi, T and Nitta, K and Iwase, A and Shirato, S and Oka, Y and Satoh, M and Sasaki, M and Fuse, N and Suzuki, Y and Cheng, CY and Khor, CC and Baskaran, M and Perera, S and Aung, T and Vithana, EN and Cooke Bailey, JN and Kang, JH and Pasquale, LR and Haines, JL and Wiggs, JL and Burdon, KP and Gharahkhani, P and Hewitt, AW and Mackey, DA and MacGregor, S and Craig, JE and Allingham, RR and Hauser, M and Ashaye, A and Budenz, DL and Akafo, S and Williams, SEI and Kamatani, Y and Nakazawa, T and Kubo, M, Japan Glaucoma Society Omics Group (JGS-OG), NEIGHBORHOOD Consortium,, Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma, Human Molecular Genetics, 27, (8) pp. 1486-1496. ISSN 0964-6906 (2018) [Refereed Article] 
MacGregor, S and Ong, J-S and An, J and Han, X and Zhou, T and Siggs, OM and Law, MH and Souzeau, E and Sharma, S and Lynn, DJ and Beesley, J and Sheldrick, B and Mills, RA and Landers, J and Ruddle, JB and Graham, SL and Healey, PR and White, AJR and Casson, RJ and Best, S and Grigg, JR and Goldberg, I and Powell, JE and Whiteman, DC and Radford-Smith, GL and Martin, NG and Montgomery, GW and Burdon, KP and Mackey, DA and Gharahkhani, P and Craig, JE and Hewitt, AW, Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma, Nature Genetics, 50, (8) pp. 1067-1071. ISSN 1061-4036 (2018) [Refereed Article]
Javadiyan, S and Lucas, SEM and Wangmo, D and Ngy, M and Edussuriya, K and Craig, JE and Rudkin, A and Casson, R and Selva, D and Sharma, S and Lower, KM and Meucke, J and Burdon, KP, Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka, Molecular Genetics & Genomic Medicine pp. 1-10. ISSN 2324-9269 (2018) [Refereed Article]
Han, X and Souzeau, E and Ong, J-S and An, J and Siggs, OM and Burdon, KP and Best, S and Goldberg, I and Healey, PR and Graham, SL and Ruddle, JB and Mills, RA and Landers, J and Galanopoulos, A and White, AJR and Casson, R and Mackey, DA and Hewitt, AW and Gharahkhani, P and Craig, JE and MacGregor, S, Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies, JAMA Ophthalmology pp. E1-E8. ISSN 2168-6165 (2018) [Refereed Article]
Lucas, SEM and Zhou, T and Blackburn, NB and Mills, RA and Ellis, J and Leo, P and Souzeau, E and Ridge, B and Charlesworth, JC and Lindsay, R and Craig, JE and Burdon, KP, Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent, PLoS One, 13, (6) Article e0199178. ISSN 1932-6203 (2018) [Refereed Article]
Cooke Bailey, JN and Gharahkhani, P and Kang, JH and Butkiewicz, M and Sullivan, DA and Weinreb, RN and Aschard, H and Allingham, RR and Ashley-Koch, A and Lee, RK and Moroi, SE and Brilliant, MH and Wollstein, G and Schuman, JS and Fingert, JH and Budenz, DL and Realini, T and Gaasterland, T and Scott, WK and Singh, K and Sit, AJ and Igo Jr, RP and Song, YE and Hark, L and Ritch, R and Rhee, DJ and Vollrath, D and Zack, DJ and Medeiros, F and Vajaranant, TS and Chasman, DI and Christen, WG and Pericak-Vance, MA and Liu, Y and Kraft, P and Richards, JE and Rosner, BA and Hauser, MA and Craig, JE and Burdon, KP and Hewitt, AW and Mackey, DA and Haines, JL and MacGregor, S and Wiggs, JL and Pasquale, LR, for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: An analysis in two large datasets, Investigative Ophthalmology and Visual Science, 59, (2) pp. 629-636. ISSN 0146-0404 (2018) [Refereed Article]
Kaidonis, G and Hassall, MM and Phillips, R and Raymond, G and Saha, N and Wong, GH and Gilhotra, JS and Liu, E and Burdon, KP and Henderson, T and Newland, H and Lake, SR and Craig, JE, Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory, Clinical and Experimental Ophthalmology, 46, (4) pp. 417-423. ISSN 1442-6404 (2018) [Refereed Article] 
Souzeau, E and Tram, KH and Witney, M and Ruddle, JB and Graham, SL and Healey, PR and Goldberg, I and Mackey, DA and Hewitt, AW and Burdon, KP and Craig, JE, Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals, Ophthalmology, 124, (3) pp. 303-309. ISSN 0161-6420 (2017) [Refereed Article] 
Zhou, T and Souzeau, E and Siggs, OM and Landers, J and Mills, R and Goldberg, I and Healey, PR and Graham, S and Hewitt, AW and Mackey, DA and Galanopoulos, A and Casson, RJ and Ruddle, JB and Ellis, J and Leo, P and Brown, MA and MacGregor, S and Sharma, S and Burdon, KP and Craig, JE, Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma, Investigative Ophthalmology and Visual Science, 58, (3) pp. 1537-1544. ISSN 0146-0404 (2017) [Refereed Article]
Liu, E and Craig, JE and Burdon, K, Diabetic macular oedema: clinical risk factors and emerging genetic influences, Clinical and Experimental Optometry, 100, (6) pp. 569-576. ISSN 0816-4622 (2017) [Refereed Article] 
Yazar, S and Franchina, M and Craig, JE and Burdon, KP and Mackey, DA, Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome, Ophthalmic Genetics, 38, (2) pp. 171-174. ISSN 1381-6810 (2017) [Refereed Article] 
Aung, T and Ozaki, M and Khor, CC and Burdon, KP and Hewitt, AW, et al, Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci, Nature Genetics, 49, (7) pp. 993-1004. ISSN 1061-4036 (2017) [Refereed Article] 
Sobrin, L and Chong, YH and Fan, Q and Gan, A and Stanwyck, LK and Kaidonis, G and Craig, JE and Kim, J and Liao, W-L and Huang, Y-C and Lee, W-J and Hung, Y-J and Guo, X and Hai, Y and Ipp, E and Pollack, S and Hancock, H and Price, A and Penman, A and Mitchell, P and Liew, G and Smith, AV and Gudnason, V and Tan, G and Klein, BEK and Kuo, J and Li, X and Christiansen, MW and Psaty, BM and Sandow, K and Jensen, RA and Klein, R and Cotch, MF and Wang, JJ and Jia, Y and Chen, CJ and Chen, Y-DI and Rotter, JL and Tsai, F-J and Hanis, CL and Burdon, KP and Wong, TY and Cheng, C-Y, Asian Genetic Epidemiology Network Consortium, Genetically determined plasma lipid levels and risk of diabetic retinopathy: A mendelian randomization study, Diabetes, 66, (12) pp. 3130-3141. ISSN 0012-1797 (2017) [Refereed Article]
Afshari, NA and Igo Jr, RP and Morris, NJ and Stambolian, D and Sharma, S and Pulagam, VL and Dunn, S and Stamler, JF and Truitt, BJ and Rimmler, J and Kuot, A and Croasdale, CR and Qin, X and Burdon, KP and Riazuddin, SA and Mills, R and Klebe, S and Minear, MA and Zhao, J and Balajonda, E and Rosenwasser, GO and Baratz, KH and Mootha, VV and Patel, SV and Gregory, SG and Bailey-Wilson, JE and Price, MO and Price, FW and Craig, JE and Fingert, JH and Gottsch, JD and Aldave, AJ and Klintworth, GK and Lass, JH and Li, YJ and Iyengar, SK, Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy, Nature Communications, 8 Article 14898. ISSN 2041-1723 (2017) [Refereed Article]
Souzeau, E and Siggs, OM and Zhou, T and Galanopoulos, A and Hodson, T and Taranath, D and Mills, RA and Landers, J and Pater, J and Smith, JE and Elder, JE and Rait, JL and Giles, P and Phakey, V and Staffieri, SE and Kearns, LS and Dubowsky, A and Mackey, DA and Hewitt, AW and Ruddle, JB and Burdon, KP and Craig, JE, Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants, European Journal of Human Genetics, 25, (7) pp. 839-847. ISSN 1018-4813 (2017) [Refereed Article]
Javadiyan, S and Craig, JE and Souzeau, E and Sharma, S and Lower, KM and Mackey, DA and Staffieri, SE and Elder, JE and Taranath, D and Straga, T and Black, J and Pater, J and Casey, T and Hewitt, AW and Burdon, KP, High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia, G3: Genes, Genomes, Genetics, 7, (10) pp. 3257-3268. ISSN 2160-1836 (2017) [Refereed Article]
Nicol, D and Eckstein, L and Morrison, M and Sherkow, JS and Otlowski, M and Whitton, T and Bubela, T and Burdon, KP and Chalmers, D and Chan, S and Charlesworth, J and Critchley, C and Crossley, M and de Lacey, S and Dickinson, JL and Hewitt, AW and Kamens, J and Kato, K and Kleiderman, E and Kodama, S and Liddicoat, J and Mackey, DA and Newson, AJ and Nielsen, J and Wagner, JK and McWhirter, RE, Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic, Genome Medicine, 9, (1) Article 85. ISSN 1756-994X (2017) [Refereed Article]
Springelkamp, H and Iglesias, AI and Mishra, A and Hohn, R and Wojciechowski, R and Khawaja, AP and Nag, A and Wang, YX and Wang, JJ and Cuellar-Partida, G and Gibson, J and Cooke Bailey, JN and Vithana, EN and Gharahkhani, P and Boutin, T and Ramdas, WD and Zeller, T and Luben, RN and Yonova-Doing, E and Viswanathan, AC and Yazar, S and Cree, AJ and Haines, JL and Koh, JY and Souzeau, E and Wilson, JF and Amin, N and Muller, C and Venturini, C and Kearns, LS and Kang, JH and Tham, YC and Zhou, T and van Leeuwen, EM and Nickels, S and Sanfilippo, P and Liao, J and van der Linde, H and Zhao, W and van Koolwijk, LME and Zheng, L and Rivadeneira, F and Baskaran, M and van der Lee, SJ and Perera, S and de Jong, PTVM and Oostra, BA and Uitterlinden, AG and Fan, Q and Hofman, A and Tai, E-S and Vingerling, JR and Sim, X and Wolfs, RCW and Teo, YY and Lemij, HG and Khor, CC and Willemsen, R and Lackner, KJ and Aung, T and Jansonius, NM and Montgomery, G and Wild, PS and Young, TL and Burdon, KP and Hysi, PG and Pasquale, LR and Wong, TY and Klaver, CCW and Hewitt, AW and Jonas, JB and Mitchell, P and Lotery, AJ and Foster, PJ and Vitart, V and Pfeiffer, N and Craig, JE and Mackey, DA and Hammond, CJ and Wiggs, JL and Cheng, C-Y and van Duijn, CM and MacGregor, S, NEIGHBORHOOD Consortium, New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics, Human Molecular Genetics, 26, (2) pp. 438-453. ISSN 0964-6906 (2017) [Refereed Article] 
Javadiyan, S and Craig, JE and Sharma, S and Lower, KM and Casey, T and Haan, E and Souzeau, E and Burdon, KP, Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome), BMC Medical Genetics, 18, (1) Article 52. ISSN 1471-2350 (2017) [Refereed Article]
Siggs, OM and Javadiyan, S and Sharma, S and Souzeau, E and Lower, KM and Taranath, DA and Black, J and Pater, J and Willoughby, JG and Burdon, KP and Craig, JE, Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract, European Journal of Human Genetics, 25, (6) pp. 711-718. ISSN 1018-4813 (2017) [Refereed Article] 
Lucas, SEM and Zhou, T and Blackburn, NB and Mills, RA and Ellis, J and Leo, P and Souzeau, E and Ridge, B and Charlesworth, JC and Brown, MA and Lindsay, RC and Craig, JE and Burdon, KP, Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent, Investigative Ophthalmology and Visual Science (Iovs), 58, (14) pp. 6248-6256. ISSN 0146-0404 (2017) [Refereed Article]
Kuot, A and Hewitt, AW and Snibson, GR and Souzeau, E and Mills, R and Craig, JE and Burdon, KP and Sharma, S, TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases, PLoS One, 12, (8) Article e0183719. ISSN 1932-6203 (2017) [Refereed Article]
Zhou, T and Souzeau, E and Sharma, S and Landers, J and Mills, R and Goldberg, I and Healey, PR and Graham, S and Hewitt, AW and Mackey, DA and Galanopoulos, A and Casson, RJ and Ruddle, JB and Ellis, J and Leo, P and Brown, MA and MacGregor, S and Lynn, DJ and Burdon, KP and Craig, JE, Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma, PLoS ONE, 12, (3) Article e0172427. ISSN 1932-6203 (2017) [Refereed Article]
Souzeau, E and Burdon, KP and Ridge, B and Dubowsky, A and Ruddle, JB and Craig, JE, A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma, BMC Medical Genetics, 17, (1) Article 30. ISSN 1471-2350 (2016) [Contribution to Refereed Journal]
Kaidonis, G and Gillies, MC and Abhary, S and Liu, E and Essex, RW and Chang, JH and Pal, B and Sivaprasad, S and Pefkianaki, M and Daniell, M and Lake, S and Petrovsky, N and Hewitt, AW and Jenkins, A and Lamoureux, EL and Gleadle, JM and Craig, JE and Burdon, KP, A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients, Acta Diabetologica, 53, (4) pp. 643-650. ISSN 0940-5429 (2016) [Refereed Article]
Souma, T and Tompson, SW and Thomson, BR and Siggs, OM and Kizhatil, K and Yamaguchi, S and Feng, L and Limviphuvadh, V and Whisenhunt, KN and Maurer-Stroh, S and Yanovitch, TL and Kalaydjieva, L and Azmanov, DN and Finzi, S and Mauri, L and Javadiyan, S and Souzeau, E and Zhou, T and Hewitt, AW and Kloss, B and Burdon, KP and Mackey, DA and Allen, KF and Ruddle, JB and Lim, S-H and Rozen, S and Tran-Viet, K-N and Liu, X and John, S and Wiggs, JL and Pasutto, F and Craig, JE and Jin, J and Quaggin, SE and Young, TL, Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity, Journal of Clinical Investigation, 126, (7) pp. 2575-2587. ISSN 0021-9738 (2016) [Refereed Article]
Cuellar-Partida, G and Craig, JE and Burdon, KP and Wang, JJ and Vote, BJ and Souzeau, E and McAllister, IL and Isaacs, T and Lake, S and Mackey, DA and Constable, IJ and Mitchell, P and Hewitt, AW and MacGregor, S, Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration, Scientific Reports, 6 Article 26885. ISSN 2045-2322 (2016) [Refereed Article]
Khong, JJ and Burdon, KP and Lu, Y and Leonardos, L and Laurie, KJ and Walsh, JP and Gajdatsy, AD and Ebeling, PR and McNab, AA and Hardy, TG and Stawell, RJ and Davis, GJ and Selva, D and Tsirbas, A and Montgomery, GW and Macgregor, S and Craig, JE, Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy, Investigative Ophthalmology and Visual Science (IOVS), 57, (7) pp. 3129-3137. ISSN 0146-0404 (2016) [Refereed Article]
Burdon, KP and Ng, SK and MacGregor, S and Craig, JE, Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population, Investigative Ophthalmology and Visual Science, 57 pp. 6418. ISSN 1552-5783 (2016) [Letter or Note in Journal]
Sharma, S and Martin, S and Sykes, MJ and Dave, A and Hewitt, AW and Burdon, KP and Ronci, M and Voelcker, NH and Craig, JE, Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome, Experimental Eye Research, 146 pp. 212-223. ISSN 0014-4835 (2016) [Refereed Article] 
Dave, A and Martin, S and Kumar, R and Craig, JE and Burdon, KP and Sharma, S, EPHA2 mutations contribute to congenital cataract through diverse mechanisms, Molecular Vision, 22 pp. 18-30. ISSN 1090-0535 (2016) [Refereed Article]
Souzeau, E and Burdon, KP and Mackey, DA and Hewitt, AW and Savarirayan, R and Otlowski, M and Craig, JE, Ethical considerations for the return of incidental findings in ophthalmic genomic research, Translational Vision Science and Technology, 5, (1) pp. 1-11. ISSN 2164-2591 (2016) [Refereed Article]
Ng, SK and Burdon, KP and Fitzgerald, JT and Zhou, T and Fogarty, R and Souzeau, E and Landers, J and Mills, RA and Casson, RJ and Ridge, B and Graham, SL and Hewitt, AW and Mackey, DA and Healey, PR and Wang, JJ and Mitchell, P and MacGregor, S and Craig, JE, Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma, Investigative Ophthalmology and Visual Science, 57, (7) pp. 3416-3421. ISSN 1552-5783 (2016) [Refereed Article]
Bailey, JN and Loomis, SJ and Kang, JH and Allingham, RR and Gharahkhani, P and Khor, CC and Burdon, KP and Aschard, H and Chasman, DI and Igo, RP and Hysi, PG and Glastonbury, CA and Ashley-Koch, A and Brilliant, M and Brown, AA and Budenz, DL and Buil, A and Cheng, CY and Choi, H and Christen, WG and Curhan, G and De Vivo, I and Fingert, JH and Foster, PJ and Fuchs, C and Gaasterland, D and Gaasterland, T and Hewitt, AW and Hu, F and Hunter, DJ and Khawaja, AP and Lee, RK and Li, Z and Lichter, PR and Mackey, DA and McGuffin, P and Mitchell, P and Moroi, SE and Perera, SA and Pepper, KW and Qi, Q and Realini, T and Richards, JE and Ridker, PM and Rimm, E and Ritch, R and Ritchie, M and Schuman, JS and Scott, WK and Singh, K and Sit, AJ and Song, YE and Tamimi, RM and Topouzis, F and Viswanathan, AC and Verma, SS and Vollrath, D and Wang, JJ and Weisschuh, N and Wissinger, B and Wollstein, G and Wong, TY and Yaspan, BL and Zack, DJ and Zhang, K and Weinreb, RN and Pericak-Vance, MA and Small, K and Hammond, CJ and Aung, T and Liu, Y and Vithana, EN and MacGregor, S and Craig, JE and Kraft, P and Howell, G and Hauser, MA and Pasquale, LR and Haines, JL and Wiggs, JL, EPIC-Norfolk Eye Study, ANZRAG Consortium, Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma, Nature Genetics, 48, (2) pp. 189-194. ISSN 1061-4036 (2016) [Refereed Article] 
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Van Bergen, NJ and Crowston, JG and Craig, JE and Burdon, KP and Kearns, LS and Sharma, S and Hewitt, A and Mackey, DA and Trounce, IA, Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy, PLoS One, 10, (10) Article e0140919. ISSN 1932-6203 (2015) [Refereed Article]
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Awadalla, MS and Burdon, KP and Craig, JE, Reply: Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?, JAMA Ophthalmology, 133, (3) pp. 359-360. ISSN 2168-6165 (2015) [Letter or Note in Journal]
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Cuellar-Partida, G and Springelkamp, H and Lucas, SEM and Yazar, S and Hewitt, AW and Iglesias, AI and Montgomery, GW and Martin, NG and Pennell, CE and van Leeuwen, EM and Verhoeven, VJM and Hofman, A and Uitterlinden, AG and Ramdas, WD and Wolfs, RCW and Vingerling, JR and Brown, MA and Mills, RA and Craig, JE and Klaver, CCW and van Duijn, CM and Burdon, KP and MacGregor, S and Mackey, DA, WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness, Human Molecular Genetics, 24, (17) pp. 5060-5068. ISSN 0964-6906 (2015) [Refereed Article]
Liu, Y and Freedman, BI and Burdon, KP and Langefeld, CD and Howard, T and Herrington, D and Goff Jr, DC and Bowden, DW and Wagenknecht, LE and Hedrick, CC and Rich, SS, Association of Arachidonate 12-Lipoxygenase Genotype Variation and Glycemic Control With Albuminuria in Type 2 Diabetes, American Journal of Kidney Diseases, 52, (2) pp. 242-250. ISSN 0272-6386 (2014) [Refereed Article] 
Gharahkhani, P and Burdon, KP and Fogarty, R and Sharma, S and Hewitt, AW and Martin, S and Law, MH and Cremin, K and Cooke Bailey, JN and Loomis, SJ and Pasquale, LR and Haines, JL and Hauser, MA and Viswanathan, AC and McGuffin, P and Topouzis, F and Foster, PJ and Graham, SL and Casson, RJ and Chehade, M and White, AJ and Zhou, T and Souzeau, E and Landers, J and Fitzgerald, JT and Klebe, S and Ruddle, JB and Goldberg, I and Healey, PR and Mills, RA and Wang, JJ and Montgomery, GW and Martin, NG and Radford-Smith, G and Whiteman, DC and Brown, MA and Wiggs, JL and Mackey, DA and Mitchell, P and MacGregor, S and Craig, JE, Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium, Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma, Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article]
Kaidonis, G and Abhary, S and Daniell, M and Gillies, M and Fogarty, R and Petrovsky, N and Jenkins, A and Essex, R and Chang, JH and Pal, B and Hewitt, AW and Burdon, KP and Craig, JE, Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics, Clinical and Experimental Ophthalmology, 42, (5) pp. 486-493. ISSN 1442-6404 (2014) [Refereed Article] 
Hysi, PG and Cheng, CY and Springelkamp, H and Macgregor, S and Bailey, JN and Wojciechowski, R and Vitart, V and Nag, A and Hewitt, AW and Hohn, R and Venturini, C and Mirshahi, A and Ramdas, WD and Thorleifsson, G and Vithana, E and Khor, CC and Stefansson, AB and Liao, J and Haines, JL and Amin, N and Wang, YX and Wild, PS and Ozel, AB and Li, JZ and Fleck, BW and Zeller, T and Staffieri, SE and Teo, YY and Cuellar-Partida, G and Luo, X and Allingham, RR and Richards, JE and Senft, A and Karssen, LC and Zheng, Y and Bellenguez, C and Xu, L and Iglesias, AI and Wilson, JF and Kang, JH and van Leeuwen, EM and Jonsson, V and Thorsteinsdottir, U and Despriet, DD and Ennis, S and Moroi, SE and Martin, NG and Jansonius, NM and Yazar, S and Tai, ES and Amouyel, P and Kirwan, J and van Koolwijk, LM and Hauser, MA and Jonasson, F and Leo, P and Loomis, SJ and Fogarty, R and Rivadeneira, F and Kearns, L and Lackner, KJ and de Jong, PT and Simpson, CL and Pennell, CE and Oostra, BA and Uitterlinden, AG and Saw, SM and Lotery, AJ and Bailey-Wilson, JE and Hofman, A and Vingerling, JR and Maubaret, C and Pfeiffer, N and Wolfs, RC and Lemij, HG and Young, TL and Pasquale, LR and Delcourt, C and Spector, TD and Klaver, CC and Small, KS and Burdon, KP and Stefansson, K and Wong, TY and Viswanathan, A and Mackey, DA and Craig, JE and Wiggs, JL and van Duijn, CM and Hammond, CJ and Aung, T, BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma, Nature Genetics, 46 pp. 1126-1130. ISSN 1546-1718 (2014) [Refereed Article] 
Crawford, A and Souzeau, E and Agar, A and Ridge, B and Dubowsky, A and Burdon, KP and Craig, JE, Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma, Gene, 545, (2) pp. 271-275. ISSN 0378-1119 (2014) [Refereed Article] 
Springelkamp, H and Hohn, R and Mishra, A and Hysi, PG and Khor, C-C and Loomis, SJ and Bailey, JNC and Gibson, J and Thorleifsson, G and Janssen, SF and Luo, X and Ramdas, WD and Vithana, E and Nongpiur, ME and Montogmery, GW and Xu, L and Mountain, JE and Gharahkhani, P and Lu, Y and Amin, N and Karssen, LC and Sim, K-S and Van Leeuwen, EM and Iglesias, AI and Verhoeven, VJM and Hauser, MA and Loon, S-C and Despriet, DDG and Nag, A and Venturini, C and Sanfilippo, PG and Schillert, A and Kang, JH and Landers, J and Jonasson, F and Cree, AJ and van Koolwijk, LM and Rivadeneira, F and Souzeau, E and Jonsson, V and Menon, G and Weinreb, RN and de Jong, PT and Oostra, BA and Uitterlinden, AG and Hofman, A and Ennis, S and Thorsteinsdottir, U and Burdon, KP and Spector, TD and Mirshahi, A and Saw, SM and Vingerling, JR and Teo, YY and Haines, JL and Klaver, CC and Wolfs, RC and Lemij, HG and Tai, ES and Jansonius, NM and Jonas, JB and Cheng, CY and Aung, T and Viswanathan, AC and Craig, JE and Macgregor, S and Mackey, DA and Lotery, AJ and Stefansson, K and Bergen, AAB and Young, TL and Wiggs, JL and Pfeiffer, N and Wong, T-Y and Pasquale, LR and Hewitt, A and van Dujin, CM and Hammond, CJ, Blue Mountains Eye Study - GWAS group; NEIGHBORHOOD Consortium; Wellcome Trust Case; Control Consortium 2 (WTCCC2), Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process, Nature Communications, 5 Article 4883. ISSN 2041-1723 (2014) [Refereed Article]
Awadalla, MS and Burdon, KP and Souzeau, E and Landers, J and Hewitt, A and Sharma, S and Craig, JE, Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12, JAMA Ophthalmology, 132, (8) pp. 970-977. ISSN 2168-6173 (2014) [Refereed Article]
Souzeau, E and Glading, J and Keane, M and Ridge, B and Zhou, T and Burdon, KP and Craig, JE, Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma, Genetics in Medicine, 16, (7) pp. 558-563. ISSN 1098-3600 (2014) [Refereed Article] 
Kaidonis, G and Mills, RA and Landers, J and Franzco, SRL and Burdon, KP and Craig, JE, Review of the prevalence of diabetic retinopathy in Indigenous Australians, Clinical and Experimental Ophthalmology, 42 pp. 875-882. ISSN 1442-6404 (2014) [Refereed Article] 
Kuot, A and Mills, R and Craig, JE and Sharma, S and Burdon, KP, Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy, Clinical and Experimental Ophthalmology, 42, (2) pp. 198-200. ISSN 1442-6404 (2014) [Letter or Note in Journal]
Landers, J and Hewitt, AW and Straga, T and Burdon, KP and Craig, JE, Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene, Clinical and Experimental Ophthalmology pp. 1-2. ISSN 1442-6404 (2014) [Letter or Note in Journal]
Landers, J and Hewitt, A and Straga, T and Burdon, KP and Craig, JE, Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene, Clinical and Experimental Ophthalmology pp. 1-2. ISSN 1442-6404 (2014) [Letter or Note in Journal] 
Khong, JJ and Goldstein, RF and Sanders, KM and Schneider, H and Pope, J and Burdon, KP, Serum selenium status in Graves' disease with and without orbitopathy: a case-control study, Clinical Endocrinology, 80 pp. 905-910. ISSN 0300-0664 (2014) [Refereed Article] 
Tug, E and Dilek, NF and Javadiyan, S and Burdon, KP and Percin, FE, A Turkish family with Nance-Horan syndrome due to a novel mutation, Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function, 525, (1) pp. 141-145. ISSN 0378-1119 (2013) [Refereed Article] 
Awadalla, MS and Thapa, SS and Hewitt, AW and Craig, JE and Burdon, KP, Association of eNOS polymorphisms with primary angle-closure glaucoma, Investigative Ophthalmology and Visual Science (Iovs), 54, (3) pp. 2108-2114. ISSN 0146-0404 (2013) [Refereed Article]
Awadalla, MS and Thapa, SS and Hewitt, AW and Burdon, KP and Craig, JE, Association of genetic variants with primary angle closure glaucoma in two different populations, PLoS One, 8, (6) Article e67903. ISSN 1932-6203 (2013) [Refereed Article]
Lu, Y and Vitart, V and Burdon, KP and Khor, CC and Bykhovskaya, Y and Mirshahi, A and Hewitt, AW and Koehn, D and Hysi, PG and Ramdas, WD and Zeller, T and Vithana, EN and Cornes, BK and Tay, WT and Tai, ES and Cheng, CY and Liu, J and Foo, JN and Saw, SM and Thorleifsson, G and Stefansson, K and Dimasi, DP and Mills, RA and Mountain, J and Ang, W and Hoehn, R and Verhoeven, VJ and Grus, F and Wolfs, R and Castagne, R and Lackner, KJ and Springelkamp, H and Yang, J and Jonasson, F and Leung, DY and Chen, LJ and Tham, CC and Rudan, I and Vatavuk, Z and Hayward, C and Gibson, J and Cree, AJ and MacLeod, A and Ennis, S and Polasek, O and Campbell, H and Wilson, JF and Viswanathan, AC and Fleck, B and Li, X and Siscovick, D and Taylor, KD and Rotter, JI and Yazar, S and Ulmer, M and Li, J and Yaspan, BL and Ozel, AB and Richards, JE and Moroi, SE and Haines, JL and Kang, JH and Pasquale, LR and Allingham, RR and Ashley-Koch, A and Mitchell, P and Wang, JJ and Wright, AF and Pennell, C and Spector, TD and Young, TL and Klaver, CC and Martin, NG and Montgomery, GW and Anderson, MG and Aung, T and Willoughby, CE and Wiggs, JL and Pang, CP and Thorsteinsdottir, U and Lotery, AJ and Hammond, CJ and van Duijn, CM and Hauser, MA and Rabinowitz, YS and Pfeiffer, N and Mackey, DA and Craig, JE and Macgregor, S and Wong, TY, NEIGHBOR Consortium, Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus, Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article]
Verhoeven, VJM and Hysi, PG and Wojciechowski, R and Fan, Q and Guggenheim, JA and Hohn, R and Macgregor, S and Hewitt, AW and Nag, A and Cheng, CY and Yonova-Doing, E and Zhou, X and Ikram, MK and Buitendijk, GHS and Mcmahon, G and Kemp, JP and Pourcain, BS and Simpson, CL and Makela, KM and Lehtimaki, T and Kahonen, M and Paterson, AD and Hosseini, SM and Wong, HS and Xu, L and Jonas, JB and Parssinen, O and Wedenoja, J and Yip, SP and Ho, DWH and Pang, CP and Chen, LJ and Burdon, KP and Craig, JE and Klein, BEK and Klein, R and Haller, T and Metspalu, A and Khor, CC and Tai, ES and Aung, T and Vithana, E and Tay, WT and Barathi, VAI and Chen, P and Li, R and Liao, J and Zheng, Y and Ong, RT and Doring, A and Evans, DM and Timpson, NJ and Verkerk, AJMH and Meitinger, T and Raitakari, O and Hawthorne, F and Spector, TD and Karssen, LC and Pirastu, M and Murgia, F and Ang, W and Mishra, A and Montgomery, GW and Pennell, CE and Cumberland, PM and Cotlarciuc, I and Mitchell, P and Wang, JJ and Schache, M and Janmahasathian, S and Igo Jr, RP and Lass, JH and Chew, E and Iyengar, SK and Gorgels, TGMF and Rudan, I and Hayward, C and Wright, AF and Polasek, O and Vatavuk, Z and Wilson, JF and Fleck, B and Zeller, T and Mirshahi, A and Muller, C and Uitterlinden, AG and Rivadeneira, F and Vingerling, JR and Hofman, A and Oostra, BA and Amin, N and Bergen, AAB and Teo, YY and Rahi, JS and Vitart, V and Williams, C and Baird, PN and Wong, TY and Oexle, K and Pfeiffer, N and Mackey, DA and Young, TL and Van Duijn, CM and Saw, S-M and Bailey-Wilson, JE and Stambolian, D and Klaver, CC and Hammond, CJ, Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia, Nature Genetics, 45, (3) pp. 314-318. ISSN 1061-4036 (2013) [Refereed Article] 
Souzeau, E and Burdon, KP and Dubowsky, A and Grist, S and Usher, B and Fitzgerald, JT and Crawford, A and Hewitt, AW and Goldberg, I and Mills, RA and Ruddle, JB and Landers, J and Mackey, DA and Craig, JE, Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry, Ophthalmology, 120, (6) pp. 1135-1143. ISSN 0161-6420 (2013) [Refereed Article]
Laurie, KJ and Dave, A and Straga, T and Souzeau, E and Chataway, T and Sykes, MJ and Casey, T and Teo, T and Pater, J and Craig, JE and Sharma, S and Burdon, KP, Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family, Human Mutation, 34, (3) pp. 435-438. ISSN 1059-7794 (2013) [Refereed Article] 
Burdon, KP and Vincent, AL, Insights into keratoconus from a genetic perspective, Clinical and Experimental Optometry, 96, (2) pp. 146-154. ISSN 0816-4622 (2013) [Refereed Article] 
Willoughby, CE and Lechner, J and Bae, HA and Guduric-Fuchs, J and Rice, A and Govindarajan, G and Siddiqui, S and Farraj, LA and Yip, SP and Yap, M and Das, M and Souzeau, E and Coster, D and Mills, RA and Lindsay, R and Phillips, T and Mitchell, P and Ali, M and Inglehearn, CF and Sundaresan, P and Craig, JE and Simpson, DA and Burdon, KP, Mutational analysis of MIR184 in sporadic keratoconus and myopia, Investigative Ophthalmology and Visual Science (Iovs), 54, (8) pp. 5266-5272. ISSN 0146-0404 (2013) [Refereed Article]
Dave, A and Laurie, K and Staffieri, SE and Taranath, D and Mackey, DA and Mitchell, P and Wang, JJ and Craig, JE and Burdon, KP and Sharma, S, Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia, PLoS One, 8, (8) Article e72518. ISSN 1932-6203 (2013) [Refereed Article]
Cheng, C-Y and Schache, M and Ikram, MK and Young, TL and Guggenheim, JA and Vitart, V and MacGregor, S and Verhoeven, VJM and Barathi, VA and Liao, J and Hysi, PG and Bailey-Wilson, JE and St Pourcain, B and Kemp, JP and McMahon, G and Timpson, NJ and Evans, DM and Montgomery, GW and Mishra, A and Wang, YX and Wang, JJ and Rochtchina, E and Polasek, O and Wright, AF and Amin, N and Van Leeuwen, EM and Wilson, JF and Pennell, CE and Van Duijn, CM and De Jong, PTVM and Vingerling, JR and Zhou, X and Chen, P and Li, R and Tay, WT and Zheng, Y and Chew, M and Burdon, KP and Craig, JE and Iyengar, SK and Igo Jr, RP and Lass Jr, JH and Chew, EY and Haller, T and Mihailov, E and Metspalu, A and Wedenoja, J and Simpson, CL and Wojciechowski, R and Hohn, R and Mirshahi, A and Zeller, T and Pfeiffer, N and Lackner, KJ and Bettecken, T and Meitinger, T and Oexle, K and Pirastu, M and Portas, L and Nag, A and Williams, KM and Yonova-Doing, E and Klein, R and Klein, BE and Hosseini, SM and Paterson, AD and Makela, KM and Lehtimaki, T and Kahonen, M and Raitakari, O and Yoshimura, N and Matsuda, F and Chen, LJ and Pang, CP and Yip, SP and Yap, MKH and Meguro, A and Mizuki, N and Inoko, H and Foster, PJ and Zhao, JH and Vithana, E and Tai, ES and Fan, Q and Xu, L and Campbell, H and Fleck, B and Rudan, I and Aung, T and Hofman, A and Uitterlinden, AGI and Bencic, G and Khor, CC and Forward, H and Parssinen, O and Mitchell, P and Rivadeneira, F and Hewitt, AW and Williams, C and Oostra, BA and Teo, YY and Hammond, CJ and Stambolian, D and Mackey, DA and Klaver, CCW and Wong, TY and Saw, SM and Baird, PN, Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (2) pp. 264-277. ISSN 0002-9297 (2013) [Refereed Article] 
Chidlow, G and Wood, JPM and Sharma, S and Dimasi, DP and Burdon, KP and Casson, RJ and Craig, JE, Ocular expression and distribution of products of the POAG-Associated chromosome 9p21 Gene Region, PL o S One, 8, (9) Article e75067. ISSN 1932-6203 (2013) [Refereed Article]
Bae, HA and Mills, RAD and Lindsay, RG and Phillips, T and Coster, DJ and Mitchell, P and Wang, JJ and Craig, JE and Burdon, KP, Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus, Investigative Ophthalmology and Visual Science (Iovs), 54, (7) pp. 5132-5135. ISSN 0146-0404 (2013) [Refereed Article] 
Awadalla, MS and Burdon, KP and Thapa, SS and Hewitt, AW and Craig, JE, A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma, Molecular Vision, 18 pp. 2247-2254. ISSN 1090-0535 (2012) [Refereed Article]
Sharma, S and Burdon, KP and Chidlow, G and Klebe, S and Crawford, A and Dimasi, DP and Dave, A and Martin, S and Javadiyan, S and Wood, JPM and Casson, R and Danoy, P and Griggs, K and Hewitt, AW and Landers, J and Mitchell, P and Mackey, DA and Craig, JE, Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye, Investigative Ophthalmology & Visual Science, 53, (8) pp. 4917-4925. ISSN 0146-0404 (2012) [Refereed Article] 
Kuot, A and Hewitt, AW and Griggs, K and Klebe, S and Mills, R and Jhanji, V and Craig, JE and Sharma, S and Burdon, KP, Association of TCF4 and CLU polymorphisms with Fuchs endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process, European Journal of Human Genetics, 20, (6) pp. 632-638. ISSN 1018-4813 (2012) [Refereed Article] 
Souzeau, E and Goldberg, I and Healey, PR and Mills, RAD and Landers, J and Graham, SL and Grigg, JRB and Usher, B and Straga, T and Crawford, A and Casson, RJ and Morgan, WH and Ruddle, JB and Coote, MA and White, A and Stewart, J and Hewitt, AW and Mackey, DA and Burdon, KP and Craig, JE, Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment, Clinical and Experimental Ophthalmology, 40, (6) pp. 569-575. ISSN 1442-6404 (2012) [Refereed Article]
Young, TK and Souzeau, E and Liu, L and Kearns, LS and Burdon, KP and Craig, JE and Ruddle, JB, Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma, Molecular Vision, 18 pp. 3064-3069. ISSN 1090-0535 (2012) [Refereed Article]
Javadiyan, S and Burdon, KP and Whiting, MJ and Abhary, S and Straga, T and Hewitt, AW and Mills, RA and Craig, JE, Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma, Investigative Ophthalmology & Visual Science, 53, (4) pp. 1923-1927. ISSN 1552-5783 (2012) [Refereed Article]
Dimasi, DP and Burdon, KP and Hewitt, AW and Fitzgerald, J and Wang, JJ and Healey, PR and Mitchell, P and Mackey, DA and Craig, JE, Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma, American Journal of Ophthalmology, 154, (5) pp. 833-842.e2. ISSN 1879-1891 (2012) [Refereed Article] 
Burdon, KP, Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review, Clinical and Experimental Ophthalmology, 40, (4) pp. 358-363. ISSN 1442-6404 (2012) [Refereed Article] 
Burdon, KP and Crawford, A and Casson, RJ and Hewitt, AW and Landers, J and Danoy, P and Mackey, DA and Mitchell, P and Healey, PR and Craig, JE, Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma, Ophthalmology, 119, (8) pp. 1539-1545. ISSN 0161-6420 (2012) [Refereed Article] 
Fogarty, RD and Abhary, S and Javadiyan, S and Kasmeridis, N and Petrovsky, N and Whiting, MJ and Craig, JE and Burdon, KP, Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes, Journal of Diabetes and Its Complications, 26, (3) pp. 195-198. ISSN 1056-8727 (2012) [Refereed Article] 
Burdon, KP and Macgregor, S and Bykhovskaya, Y and Javadiyan, S and Li, X and Laurie, KJ and Muszynska, D and Lindsay, R and Lechner, J and Haritunians, T and Henders, AK and Dash, D and Siscovick, D and Anand, S and Aldave, A and Coster, DJ and Szczotka-Flynn, L and Mills, RA and Iyengar, SK and Taylor, KD and Phillips, T and Montgomery, GW and Rotter, JI and Hewitt, AW and Sharma, S and Rabinowitz, YS and Willoughby, C and Craig, JE, Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus, Investigative Ophthalmology and Visual Science, 52, (11) pp. 8514-8519. ISSN 0146-0404 (2011) [Refereed Article]
Dimasi, DP and Hewitt, AW and Kagame, K and Ruvama, S and Tindyebwa, L and Llamas, B and Kirk, KA and Mitchell, P and Burdon, KP and Craig, JE, Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype, PLoS One, 6, (8) Article e22103. ISSN 1932-6203 (2011) [Refereed Article]
Burdon, KP and Macgregor, S and Hewitt, AW and Sharma, S and Chidlow, G and Mills, RA and Danoy, P and Casson, R and Viswanathan, AC and Liu, JZ and Landers, J and Henders, AK and Wood, J and Souzeau, E and Crawford, A and Leo, P and Wang, JJ and Rochtchina, E and Nyholt, DR and Martin, NG and Montgomery, GW and Mitchell, P and Brown, MA and Mackey, DA and Craig, JE, Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1, Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article]
Khan, K and Rudkin, A and Parry, DA and Burdon, KP and McKibbin, M and Logan, CV and Abdelhamed, ZIA and Muecke, JS and Fernandez-Fuentes, N and Laurie, KJ and Shires, M and Fogarty, R and Carr, IM and Poulter, JA and Morgan, JE and Mohamed, MD and Jafri, H and Raashid, Y and Meng, N and Piseth, H and Toomes, C and Casson, RJ and Taylor, GR and Hammerton, M and Sheridan, E and Johnson, CA and Inglehearn, CF and Craig, JE and Ali, M, Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 89, (3) pp. 464-473. ISSN 0002-9297 (2011) [Refereed Article]
Ronci, M and Sharma, S and Chataway, T and Burdon, KP and Martin, S and Craig, JE and Voelcker, NH, MALDI-MS-imaging of whole human lens capsule, Journal of Proteome Research, 10, (8) pp. 3522-3529. ISSN 1535-3893 (2011) [Refereed Article] 
Awadalla, MS and Burdon, KP and Kuot, A and Hewitt, AW and Craig, JE, Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population, Molecular Vision, 17 pp. 1420-1424. ISSN 1090-0535 (2011) [Refereed Article]
Awadalla, MS and Thapa, SS and Burdon, KP and Hewitt, AW and Craig, JE, The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population, Molecular Vision, 17 pp. 2248-2254. ISSN 1090-0535 (2011) [Refereed Article]
Pratap, DS and Lim, LL and Wang, JJ and Mackey, DA and Kearns, LS and Stawell, RJ and Burdon, KP and Mitchell, P and Craig, JE and Hall, AJ and Hewitt, AW, Wellcome Trust Case Control Consortium 2, The role of toll-like receptor variants in acute anterior uveitis, Molecular Vision, 17 pp. 2970-2977. ISSN 1090-0535 (2011) [Refereed Article]
Hattersley, K and Laurie, KJ and Liebelt, JE and Gecz, J and Durkin, SR and Craig, JE and Burdon, KP, A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32, BMC Medical Genetics, 11, (1) Article 165. ISSN 1471-2350 (2010) [Refereed Article]
Abhary, S and Burdon, KP and Laurie, KJ and Thorpe, S and Landers, J and Goold, L and Lake, S and Petrovsky, N and Craig, JE, Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility, Diabetes Care, 33, (8) pp. 1834-1836. ISSN 0149-5992 (2010) [Refereed Article]
Abhary, S and Burdon, KP and Casson, RJ and Goggin, M and Petrovsky, NP and Craig, JE, Association between erythropoietin gene polymorphisms and diabetic retinopathy, Archives of Ophthalmology, 128, (1) pp. 102-106. ISSN 0003-9950 (2010) [Refereed Article]
Dimasi, DP and Burdon, KP and Hewitt, AW and Savarirayan, R and Healey, PR and Mitchell, P and Mackey, DA and Craig, JE, Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness, Molecular Vision, 16, (63-65) pp. 562-569. ISSN 1090-0535 (2010) [Refereed Article] 
Lu, Y and Dimasi, DP and Hysi, PG and Hewitt, AW and Burdon, KP and Toh, T and Ruddle, JB and Li, YJ and Mitchell, P and Healey, PR and Montgomery, GW and Hansell, N and Spector, TD and Martin, NG and Young, TL and Hammond, CJ and Macgregor, S and Craig, JE and Mackey, DA, Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness, PL o S Genetics (Print), 6, (5) Article e1000947. ISSN 1553-7390 (2010) [Refereed Article]
Thorleifsson, G and Walters, GB and Hewitt, AW and Masson, G and Helgason, A and DeWan, A and Sigurdsson, A and Jonasdottir, A and Gudjonsson, SA and Magnusson, KP and Stefansson, H and Lam, DSC and Tam, POS and Gudmundsdottir, GJ and Southgate, L and Burdon, KP and Gottfredsdottir, MS and Aldred, MA and Mitchell, P and St Clair, D and Collier, DA and Tang, N and Sveinsson, O and Macgregor, S and Martin, NG and Cree, AJ and Gibson, J and MacLeod, A and Jacob, A and Ennis, S and Young, TL and Chan, JCN and Karwatowski, WSS and Hammond, CJ and Thordarson, K and Zhang, M and Wadelius, C and Lotery, AJ and Trembath, RC and Pang, CP and Hoh, J and Craig, JE and Kong, A and Mackey, DA and Jonasson, F and Thorsteinsdottir, U and Stefansson, K, Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma, Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article] 
Burdon, KP and Rudock, ME and Lehtinen, AB and Langefeld, CD and Bowden, DW and Register, TC and Liu, Y and Freedman, BI and Carr, JJ and Hedrick, CC and Rich, SS, Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study, Mediators of Inflammation Article 170153. ISSN 0962-9351 (2010) [Refereed Article]
Dimasi, DP and Chen, JY and Hewitt, AW and Klebe, S and Davey, R and Stirling, J and Thompson, E and Forbes, R and Tan, TY and Savarirayan, R and Mackey, DA and Healey, PR and Mitchell, P and Burdon, KP and Craig, JE, Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes, Human Genetics, 127, (1) pp. 33-44. ISSN 0340-6717 (2010) [Refereed Article] 
Abhary, S and Burdon, KP and Kuot, A and Javadiyan, S and Whiting, MJ and Kasmeridis, N and Petrovsky, N and Craig, JE, Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes, PL o S One, 5, (3) Article e9462. ISSN 1932-6203 (2010) [Refereed Article]
Burdon, KP and Hewitt, AW and Mackey, DA and Mitchell, P and Craig, JE, Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma, Molecular Vision, 16 pp. 2286-2293. ISSN 1090-0535 (2010) [Refereed Article]
Burdon, KP and Durkin, SR and Burke, M and Edwards, M and Pater, J and Straga, T and Gecz, J and Liebelt, JE and Craig, JE, A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family, American Journal of Medical Genetics. Part A, 149, (4) pp. 633-639. ISSN 1552-4825 (2009) [Refereed Article] 
Abhary, S and Hewitt, AW and Burdon, KP and Craig, JE, A systematic meta-analysis of genetic association studies for diabetic retinopathy, Diabetes, 58, (9) pp. 2137-2147. ISSN 0012-1797 (2009) [Refereed Article]
Abhary, S and Burdon, KP and Gupta, A and Lake, S and Selva, D and Petrovsky, N and Craig, JE, Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy, Investigative Ophthalmology and Visual Science (Iovs), 50, (12) pp. 5552-5558. ISSN 0146-0404 (2009) [Refereed Article]
Abhary, S and Kasmeridis, N and Burdon, KP and Kuot, A and Whiting, MJ and Wai, PY and Petrovsky, N and Craig, JE, Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines, Diabetes Care, 32, (11) pp. 2084-2086. ISSN 0149-5992 (2009) [Refereed Article]
Abhary, S and Burdon, KP and Gupta, A and Petrovsky, N and Craig, JE, Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms, Molecular Vision, 15 pp. 1179-1184. ISSN 1090-0535 (2009) [Refereed Article]
Landers, JA and Hewitt, AW and Dimasi, DP and Charlesworth, JC and Straga, T and Mills, RAD and Savarirayan, R and Mackey, DA and Burdon, KP and Craig, JE, Heritability of Central Corneal Thickness in Nuclear Families , Investigative Ophthalmology and Visual Science (Iovs), 50, (9) pp. 4087-4090 . ISSN 0146-0404 (2009) [Refereed Article]
Sharma, S and Chataway, T and Burdon, KP and Jonavicius, L and Klebe, S and Hewitt, AW and Mills, RA and Craig, JE, Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry, Experimental Eye Research: An International Journal Devoted to Scientific Research on The Eye, 89, (4) pp. 479-485. ISSN 0014-4835 (2009) [Refereed Article] 
Zhang, T and Hua, R and Xiao, W and Burdon, KP and Bhattacharya, SS and Craig, JE and Shang, D and Zhao, X and Mackey, DA and Moore, AT and Luo, Y and Zhang, J and Zhang, X, Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract, Human Mutation, 30, (5) pp. E603-E611. ISSN 1059-7794 (2009) [Refereed Article] 
Craig, JE and Hewitt, AW and McMellon, AE and Henders, AK and Ma, L and Wallace, L and Sharma, S and Burdon, KP and Visscher, PM and Montgomery, GW and MacGregor, S, Rapid inexpensive genome-wide association using pooled whole blood, Genome Research, 19, (11) pp. 2075-2080. ISSN 1088-9051 (2009) [Refereed Article]
Craig, JE and Friend, KL and Gecz, J and Rattray, KM and Troski, M and Mackey, DA and Burdon, KP, A novel locus for X-linked congenital cataract on Xq24, Molecular Vision, 14 pp. 721-726. ISSN 1090-0535 (2008) [Refereed Article] 
Hewitt, AW and Sharma, S and Burdon, KP and Wang, JJ and Baird, PN and Dimasi, DP and Mackey, DA and Mitchell, P and Craig, JE, Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people, Human Molecular Genetics, 17, (5) pp. 710-716. ISSN 0964-6906 (2008) [Refereed Article] 
Burdon, KP and Coster, DJ and Charlesworth, JC and Mills, RA and Laurie, KJ and Giunta, C and Hewitt, AW and Latimer, P and Craig, JE, Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci, Human Genetics, 124, (4) pp. 379-386 . ISSN 0340-6717 (2008) [Refereed Article]
Ormsby, RJ and Ranganathan, S and Tong, JC and Griggs, KM and Dimasi, DP and Hewitt, AW and Burdon, KP and Craig, JE and Hoh, J and Gordon, DL, Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration, Investigative Ophthalmology and Visual Science (Iovs), 49, (5) pp. 1763-1770. ISSN 0146-0404 (2008) [Refereed Article]
Burdon, KP and Sharma, S and Hewitt, AW and McMellon, AE and Wang, JJ and Mackey, DA and Mitchell, P and Craig, JE, Genetic analysis of the clusterin gene in pseudoexfoliation syndrome, Molecular Vision, 14, (205-06) pp. 1727-1736. ISSN 1090-0535 (2008) [Refereed Article]
Burdon, KP and Lehtinen, AB and Langefeld, CD and Carr, JJ and Rich, SS and Freedman, BI and Herrington, D and Bowden, DW, Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study, Diabetes and Vascular Disease Research, 5, (2) pp. 128-134. ISSN 1479-1641 (2008) [Refereed Article] 
Burdon, KP and Hattersley, K and Lachke, SA and Laurie, KJ and Maas, RL and Mackey, DA and Craig, JE, Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract, Molecular Vision, 14 pp. 1799-1804. ISSN 1090-0535 (2008) [Refereed Article]
Sharma, S and Burdon, KP and Dave, A and Jamieson, RV and Yaron, Y and Billson, F and Van Maldergem, L and Lorenz, B and Gecz, J and Craig, JE, Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform, Molecular Vision, 14 pp. 1856-1864. ISSN 1090-0535 (2008) [Refereed Article]
Dickinson, JL and Sale, MM and Passmore, A and Fitzgerald, LM and Wheatley, CM and Burdon, KP and Craig, JE and Tengtrisorn, S and Carden, SM and Franzco, HM and Mackey, DA, Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity, Clinical and Experimental Ophthalmology, 34, (7) pp. 682-688. ISSN 1442-6404 (2006) [Refereed Article] 
Hewitt, AW and Burdon, KP, The relative contribution of the X chromosome to ocular phenotypes, Ophthalmic Genetics, 26, (4) pp. 191-193. ISSN 1381-6810 (2005) [Letter or Note in Journal] 
McKay, JD and Patterson, B and Craig, JE and Russell-Eggitt, E and Wirth, MG and Burdon, KP and Hewitt, A and Cohn, AC and Kerdraon, Y and Mackey, DA, The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes, British Journal of Ophthalmology, 89, (7) pp. 831-834. ISSN 0007-1161 (2005) [Refereed Article] 
Burdon, KP and Wirth, MG and Mackey, DA and Russell-Eggitt, IM and Craig, JE and Elder, JE and Dickinson, JL and Sale, MM, A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance, Journal of Medical Genetics, 41, (8) pp. e106-109. ISSN 0022-2593 (2004) [Refereed Article] 
Burdon, KP and Wirth, MG and Mackey, DA and Russell-Eggitt, IM and Craig, JE and Elder, JE and Dickinson, JL and Sale, MM, Investigation of crystallin genes in familial cataract, and report of two disease associated mutations, British Journal of Ophthalmology , 88, (1) pp. 79-83. ISSN 0007-1161 (2004) [Refereed Article] 
Burdon, KP and Wilkinson, RM and Barbour, JM and Dickinson, JL and Stankovich, J and Mackey, DA and Sale, MM, Investigation of albinism genes in congenital esotropia, Molecular Vision, 9, (83-85 ) pp. 710-714. ISSN 1090-0535 (2003) [Refereed Article] 
Burdon, KP and McKay, JD and Sale, MM and Russell-Eggitt, IM and Mackey, DA and Wirth, MG and Elder, JE and Nicoll, A and Clarke, MP and Fitzgerald, LM and Stankovich, J and Shaw, MA and Sarma, S and Gajovic, S and Gruss, P and Ross, S and Thomas, P and Voss, AK and Thomas, T and Gecz, J and Craig, JE, Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation, American Journal of Human Genetics, 73, (5) pp. 1120-1130. ISSN 0002-9297 (2003) [Refereed Article] 
Review
Ng, SK and Casson, RJ and Burdon, KP and Craig, JE, Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review, Clinical and Experimental Ophthalmology, 42, (1) pp. 25-32. ISSN 1442-6404 (2014) [Substantial Review]
Dimasi, DP and Burdon, KP and Craig, JE, The genetics of central corneal thickness, British Journal of Ophthalmology, 94, (8) pp. 971-976. ISSN 0007-1161 (2010) [Substantial Review]
Conference Publication
Burdon, KP and Fogarty, R and Petrovsky, N and Gillies, M and Daniell, M and Abhary, S and Govindarjan, G and Sundaresan, P and Kaidonis, G and Jenkins, A and Chang, J and Essex, R and Pal, B and Craig, JE, Genetic variation near GRB2 and KCNB2 identified by a genome-wide association study are reproducibly associated with diabetic retinopathy (Abstract), Clinical and Experimental Ophthalmology, pp. 119, 41 (Suppl 1). (2013) [Conference Extract]
Khong, JJ and Goldstein, RF and Schneider, H and Pope, J and Sanders, KM and Burdon, KP and Craig, JE and Ebeling, PR, Relative selenium deficiency in Graves' orbitopathy (Poster Abstract), Clinical and Experimental Ophthalmology, pp. 93, 41 (Supp 1). (2013) [Conference Extract]

This list was generated on Wed Nov 14 16:43:33 2018.