Browsing by Author Burdon, Kathryn P

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Issue DateTitleAuthor(s)Citation
2008Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic peopleMitchell, Ronald (Paul); Wang, Jie Jin; Baird, Paul; Burdon, Kathryn P; Craig, Jamie E.; Dimasi, David P; Hewitt, Alex W.; Mackey, David A.; Sharma, Shiwani; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteAncestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people, Human Molecular Genetics, vol.17,(5),2008,pp 710-716
2012Association of Genetic Variants in the TMCO1 Gene with Clinical Parameters Related to Glaucoma and Characterization of the Protein in the EyeMitchell, Paul; Burdon, Kathryn P; Casson, Robert; Chidlow, Glyn; Craig, Jamie E.; Crawford, April; Danoy, Patrick; Dave, Alpana; Dimasi, David P; Griggs, Kim; Hewitt, Alex; Javadiyan, Shahrbanou; Klebe, Sonja; Landers, John; Mackey, David A.; Martin, Sarah; Sharma, Shiwani; Wood, John P M; Western Clinical School: Westmead Millennium InstituteAssociation of Genetic Variants in the TMCO1 Gene with Clinical Parameters Related to Glaucoma and Characterization of the Protein in the Eye, Investigative Ophthalmology and Visual Science, vol.53, 8, 2012,pp 4917-4925
2015Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye StudyHealey, Paul; Lee, Anne; Mitchell, Paul; Rochtchina, Elena; Thomas, Peter B M; Wang, Jie Jin; White, Andrew; Burdon, Kathryn P; Craig, Jamie E.; Central Clinical School: Ophthalmology & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Western Clinical School: Westmead Institute for Medical Res; Central Clinical School: Ophthalmology & Eye HealthAssociation of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study, American Journal of Ophthalmology, vol.159, 1, 2015,pp 31-36. e1
2010Candidate gene study to investigate the genetic determinants of normal variation in central corneal thicknessHealey, Paul; Mitchell, Paul; Burdon, Kathryn P; Craig, Jamie; Dimasi, David P; Hewitt, Alex; Mackey, David; Savarirayan, Ravi; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Institute for Medical ResCandidate gene study to investigate the genetic determinants of normal variation in central corneal thickness, Molecular Vision, vol.16, N/A, 2010,pp 562-569
2010Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal ThicknessHealey, Paul; Mitchell, Paul (Ronald); Burdon, Kathryn P; Craig, Jamie; Dimasi, David P; Hammond, Christopher J; Hansell, Narelle K; Hewitt, Alex; Hysi, Pirro; Li, Yi Ju; Lu, Yi; MacGregor, Stuart; Mackay, David A.; Martin, Nicholas G.; Montgomery, Grant W.; Ruddle, Jonathan; Spector, Tim; Toh, Tze'Yo; Young, Terri; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Millennium InstituteCommon Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness, PLoS Genetics, vol.6, 5,pp e1000947 - 1-e1000947 - 10
2015Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular EdemaGillies, Mark; Jenkins, Alicia; Abhary, Sotoodeh; Burdon, Kathryn P; Chang, John H; Craig, Jamie; Daniell, Mark; Essex, Rohan; Gleadle, Jonathan; Hewitt, Alex; Kaidonis, Georgia; Lake, Stewart; Lamoureux, Ecosse; Pal, Bishwanath; Pefkianaki, Maria; Petrovsky, Nikolai; Central Clinical School: Save Sight & Eye Health Inst.; NH&MRC Clinical Trials CentreCommon Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema, Ophthalmology, vol.122, 9, 2015,pp 1828-1836
2011Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype.Mitchell, Paul (Ronald); Burdon, Kathryn P; Craig, Jamie E.; Dimasi, David P; Hewitt, Alex; Kagame, Kenneth; Kirk, Kirsty; Llamas, Bastien; Ruvama, Sam; Tindyebwa, Ludovica; Western Clinical School: Westmead Millennium InstituteEthnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype., PLoS One, vol.6, 8, 2011,pp 1-10
2008Genetic analysis of the clustering gene in pseudoexfoliation syndromeMitchell, Ronald (Paul); Wang, Jie Jin; Burdon, Kathryn P; Craig, Jamie E.; Hewitt, Alex W.; Mackey, David A.; mcMellon, Amy E.; Sharma, Shiwani; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteGenetic analysis of the clustering gene in pseudoexfoliation syndrome, Molecular Vision, vol.14,(N/A),2008,pp 1727-1736
2017Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociMitchell, Paul; Wang, Jie Jin; Abu-Amero, Khaled; Astakhov, Yury; Aung, Tin; Burdon, Kathryn P; et al, Various; Haripriya, Aravind; Hauser, Michael; Igo, Robert; Lee, Mei Chin; Li, Zheng; Mizoguchi, Takanori; Mori, Kazuhiko; Nakano, Satoko; Orr, Andrew; Ozaki, Mineo; Prakadeeswari, Gopalakrishnan; Schlotzer-Schrehardt, U; Thorleifsson, Gudmar; Williams, Susan; Westmead Clinical School: Westmead Institute for Medical Res; Westmead Clinical School: Westmead Institute for Medical ResGenetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci, Nature Genetics, vol.49, 7, 2017,pp 993-1004
2012Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucomaHealey, Paul; Mitchell, Paul (Ronald); Wang, Jie Jin; Burdon, Kathryn P; Craig, Jamie E.; Dimasi, David P; Fitzgerald, Jude; Hewitt, Alex; Mackey, David; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteGenetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma, American Journal of Ophthalmology, vol.154, 5, 2012,pp 833-842
2014Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristicsGillies, Mark; Abhary, Sotoodeh; Burdon, Kathryn P; Chang, John H.; Craig, Jamie E.; Daniell, Mark; Essex, Rohan; Fogarty, RF; Hewitt, Alex; Jenkins, Alicia; Kaidonis, Georgia; Pal, Bishwanath; Petrovsky, Nikolai; Central Clinical School: Save Sight & Eye Health Inst.Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics, Clinical and Experimental Ophthalmology, vol.42, 5, 2014,pp 486-493
2013Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusMitchell, Paul; Wang, Jie Jin; Burdon, Kathryn P; Bykhovskaya, Yelena; et al, Various; Hewitt, Alex; Hysi, Pirro G.; Khor, Chiea Chuen; Koehn, Demelza; Lu, Yi; Misshahi, Alireza; Ramdas, Wishal; Vitart, Veronique; Zeller, Tanja; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteGenome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus, Nature Genetics, vol.45, 2, 2013,pp 155-163
2015Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 geneGillies, Mark; Jenkins, Alicia; Shen, Weiyong; Abhary, Sotoodeh; Appukuttan, Binoy; Burdon, Kathryn P; Chang, John H; Daniell, Mark; Essex, Rohan; et al, Various; Fogarty, Rhys D; Hewitt, Alex; Kaidonis, Georgia; Sharma, Shiwani; Central Clinical School: Save Sight & Eye Health Inst.; NH&MRC Clinical Trials Centre; Central Clinical School: Clinical Ophthal & Eye HealthGenome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene, Diabetologia, vol.58, 10, 2015,pp 2288-2297
2011Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1Mitchell, Paul (Ronald); Rochtchina, Elena; Wang, Jie Jin; Burdon, Kathryn P; Casson, Robert; Chidlow, Glyn; Danoy, Patrick; et al, various; Hewitt, Alex W.; Liu, Jimmy; MacGregor, Stuart; Mills, Richard; Sharma, Shiwani; Viswanathan, Ananth C.; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Millennium InstituteGenome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1, Nature Genetics, vol.43, 6, 2011,pp 574-578
2013Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registryGoldberg, Ivan; Burdon, Kathryn P; Craig, Jamie E.; Crawford, April; Dubowsky, Andrew; Fitzgerald, Jude; Grist, Scott; Hewitt, Alex W.; Landers, John; Mackey, David; Mills, Richard; Ruddle, Jonathan; Souzeau, Emmanuelle; Usher, Bronwyn; Central Clinical School: Ophthalmology & Eye HealthHigher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry, Ophthalmology, vol.120, 6, 2013,pp 1135-1143
2013Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern AustraliaMitchell, Paul (Ronald); Wang, Jie Jin; Burdon, Kathryn P; Craig, Jamie E.; Dave, Alpana; Laurie, Kate; Mackey, David; Sharma, Shiwani; Staffieri, Sandra; Taranath, Deepa; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteMutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia, PLoS One, vol.8, 8, 2013,pp 1-7
2010Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.Healey, Paul; Mitchell, Paul (Ronald); Burdon, Kathryn P; Chen, Jern; Craig, Jamie E.; Davey, Richard; Dimasi, David P; Forbes, Robin; Hewitt, Alex W.; Klebe, Sonja; Mackey, David A.; Savarirayan, Ravi; Stirling, John; Tan, T; Thompson, Elizabeth; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Millennium InstituteNovel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes., Human Genetics, vol.127, 1,pp 33-44
2015Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucomaWechsler, David; Burdon, Kathryn P; Chehade, Mark J; Craig, Jamie E.; Dubowsky, Andrew; Glading, Jodi A; Ridge, Bronwyn; Souzeau, Emmanuelle; Central Clinical School: Clinical Ophthal & Eye HealthPredictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma, Clinical Genetics, vol.88, 6, 2015,pp 584-588
2016Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathyGillies, Mark; Abhary, Sotoodeh; Burdon, Kathryn P; Chang, John H; Craig, Jamie E.; Daniell, Mark; Essex, Rohan; Kaidonis, Georgia; Lake, Stewart; Pal, Bishwanath; Pefkianaki, Maria; Petrovsky, Nikolai; Central Clinical School: Save Sight & Eye Health Inst.Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy, Diabetes and Vascular Disease Research, vol.13, 2, 2016,pp 164-167
2011The role of toll-like receptor variants in acute anterior uveitis.Mitchell, Paul (Ronald); Wang, Jie Jin; Burdon, Kathryn P; Craig, Jamie; Hall, Anthony; Hewitt, Alex; Kearns, Lisa S.; Lim, L L; Mackey, David; Pratap, Divya; Stawell, Richard; Wellcome Trust, Case Control Consortium; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteThe role of toll-like receptor variants in acute anterior uveitis., Molecular Vision, vol.17, N/A, 2011,pp 2970-2977