Works by Burdon, Kathryn P.

Results: 86

Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53212-6

By:

Diaz-Torres, Santiago;
Lee, Samantha Sze-Yee;
García-Marín, Luis M.;
Campos, Adrian I.;
Lingham, Garreth;
Ong, Jue-Sheng;
Mackey, David A.;
Burdon, Kathryn P.;
Hunter, Michael;
Dong, Xianjun;
MacGregor, Stuart;
Gharahkhani, Puya;
Rentería, Miguel E.

Publication type:

Article

The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus.

Published in:

2022

By:

Gurung, Rajya L.;
FitzGerald, Liesel M.;
Liu, Ebony;
McComish, Bennet J.;
Kaidonis, Georgia;
Ridge, Bronwyn;
Hewitt, Alex W.;
Vote, Brendan JT.;
Verma, Nitin;
Craig, Jamie E.;
Burdon, Kathryn P.

Publication type:

journal article

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

Published in:

Molecular Vision, 2018, v. 24, p. 261

By:

Souzeau, Emmanuelle;
Rudkin, Adam K.;
Dubowsky, Andrew;
Casson, Robert J.;
Muecke, James S.;
Mancel, Erica;
Whiting, Mark;
Mills, Richard A. D.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.

Published in:

Molecular Vision, 2016, v. 22, p. 1

By:

Dave, Alpana;
Martin, Sarah;
Kumar, Raman;
Craig, Jamie E.;
Burdon, Kathryn P.;
Sharma, Shiwani

Publication type:

Article

Use of Corneal Biomechanical Measures as Endophenotypes for Understanding the Genetics of Keratoconus.

Published in:

2019

By:

Burdon, Kathryn P.

Publication type:

journal article

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Published in:

2019

By:

Siggs, Owen M.;
Souzeau, Emmanuelle;
Pasutto, Francesca;
Dubowsky, Andrew;
Smith, James E. H.;
Taranath, Deepa;
Pater, John;
Rait, Julian L.;
Narita, Andrew;
Mauri, Lucia;
Del Longo, Alessandra;
Reis, André;
Chappell, Angela;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Elder, James E.;
Ruddle, Jonathan B.;
Hewitt, Alex W.;
Burdon, Kathryn P.;
Mackey, David A.

Publication type:

journal article

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

Published in:

2019

By:

Han, Xikun;
Souzeau, Emmanuelle;
Ong, Jue-Sheng;
An, Jiyuan;
Siggs, Owen M.;
Burdon, Kathryn P.;
Best, Stephen;
Goldberg, Ivan;
Healey, Paul R.;
Graham, Stuart L.;
Ruddle, Jonathan B.;
Mills, Richard A.;
Landers, John;
Galanopoulos, Anna;
White, Andrew J.R.;
Casson, Robert;
Mackey, David A.;
Hewitt, Alex W.;
Gharahkhani, Puya;
Craig, Jamie E.

Publication type:

journal article

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

Published in:

2015

By:

Souzeau, Emmanuelle;
Hayes, Melanie;
Zhou, Tiger;
Siggs, Owen M.;
Ridge, Bronwyn;
Awadalla, Mona S.;
Smith, James E. H.;
Ruddle, Jonathan B.;
Elder, James E.;
Mackey, David A.;
Hewitt, Alex W.;
Healey, Paul R.;
Goldberg, Ivan;
Morgan, William H.;
Landers, John;
Dubowsky, Andrew;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

journal article

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?-Reply.

Published in:

2015

By:

Awadalla, Mona S;
Burdon, Kathryn P;
Craig, Jamie E

Publication type:

Journal Article

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?

Published in:

JAMA Ophthalmology, 2015, v. 133, n. 3, p. 358, doi. 10.1001/jamaophthalmol.2014.4915

By:

Wenmin Sun;
Qingjiong Zhang;
Awadalla, Mona S.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12.

Published in:

JAMA Ophthalmology, 2014, v. 132, n. 8, p. 970, doi. 10.1001/jamaophthalmol.2014.946

By:

Awadalla, Mona S.;
Burdon, Kathryn P.;
Souzeau, Emmanuelle;
Landers, John;
Hewitt, Alex W.;
Sharma, Shiwani;
Craig, Jamie E.

Publication type:

Article

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722

By:

Siggs, Owen M.;
Awadalla, Mona S.;
Souzeau, Emmanuelle;
Staffieri, Sandra E.;
Kearns, Lisa S.;
Laurie, Kate;
Kuot, Abraham;
Qassim, Ayub;
Edwards, Thomas L.;
Coote, Michael A.;
Mancel, Erica;
Walland, Mark J.;
Dondey, Joanne;
Galanopoulous, Anna;
Casson, Robert J.;
Mills, Richard A.;
MacArthur, Daniel G.;
Ruddle, Jonathan B.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 632, doi. 10.1038/ejhg.2011.248

By:

Kuot, Abraham;
Hewitt, Alex W;
Griggs, Kim;
Klebe, Sonja;
Mills, Richard;
Jhanji, Vishal;
Craig, Jamie E;
Sharma, Shiwani;
Burdon, Kathryn P

Publication type:

Article

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

Published in:

Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824

By:

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;
Jie Jin Wang;
Rochtchina, Elena;
Nyholt, Dale R.;
Martin, Nicholas G.

Publication type:

Article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Published in:

Nature Genetics, 2010, v. 42, n. 10, p. 906, doi. 10.1038/ng.661

By:

Thorleifsson, Gudmar;
Walters, G. Bragi;
Hewitt, Alex W.;
Masson, Gisli;
Helgason, Agnar;
DeWan, Andrew;
Sigurdsson, Asgeir;
Jonasdottir, Adalbjorg;
Gudjonsson, Sigurjon A.;
Magnusson, Kristinn P.;
Stefansson, Hreinn;
Lam, Dennis S. C.;
Tam, Pancy O. S.;
Gudmundsdottir, Gudrun J.;
Southgate, Laura;
Burdon, Kathryn P.;
Gottfredsdottir, Maria Soffia;
Aldred, Micheala A.;
Mitchell, Paul;
Clair, David St.

Publication type:

Article

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness.

Published in:

PLoS Genetics, 2010, v. 6, n. 5, p. 1, doi. 10.1371/journal.pgen.1000947

By:

Yi Lu;
Dimasi, David P.;
Hysi, Pirro G.;
Hewitt, Alex W.;
Burdon, Kathryn P.;
Tze'Yo Toh;
Ruddle, Jonathan B.;
Yi Ju Li;
Mitchell, Paul;
Healey, Paul R.;
Montgomery, Grant W.;
Hansell, Narelle;
Spector, Timothy D.;
Martin, Nicholas G.;
Young, Terri L.;
Hammond, Christopher J.;
Macgregor, Stuart;
Craig, Jamie E.;
Mackey, David A.

Publication type:

Article

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Published in:

Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0634-9

By:

Bonnemaijer, Pieter W. M.;
Leeuwen, Elisabeth M. van;
Iglesias, Adriana I.;
Gharahkhani, Puya;
Vitart, Veronique;
Khawaja, Anthony P.;
Simcoe, Mark;
Höhn, René;
Cree, Angela J.;
Igo, Rob P.;
International Glaucoma Genetics Consortium;
Burdon, Kathryn P.;
Craig, Jamie E.;
Hewitt, Alex W.;
Jonas, Jost;
Khor, Chiea-Cheun;
Pasutto, Francesca;
Mackey, David A.;
Mitchell, Paul;
Mishra, Aniket

Publication type:

Article

Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment.

Published in:

Journal of Diabetes Research, 2020, p. 1, doi. 10.1155/2020/5016916

By:

Gurung, Rajya L.;
FitzGerald, Liesel M.;
McComish, Bennet J.;
Verma, Nitin;
Burdon, Kathryn P.

Publication type:

Article

Serum selenium status in Graves' disease with and without orbitopathy: a case-control study.

Published in:

Clinical Endocrinology, 2014, v. 80, n. 6, p. 905, doi. 10.1111/cen.12392

By:

Khong, Jwu Jin;
Goldstein, Rebecca F.;
Sanders, Kerrie M.;
Schneider, Hans;
Pope, Jeffrey;
Burdon, Kathryn P.;
Craig, Jamie E.;
Ebeling, Peter R.

Publication type:

Article

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3257, doi. 10.1534/g3.117.300109

By:

Javadiyan, Shari;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Lower, Karen M.;
Mackey, David A.;
Staffieri, Sandra E.;
Elder, James E.;
Taranath, Deepa;
Straga, Tania;
Black, Joanna;
Pater, John;
Casey, Theresa;
Hewitt, Alex W.;
Burdon, Kathryn P.

Publication type:

Article

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0172427

By:

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.;
Craig, Jamie E.

Publication type:

Article

Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Published in:

Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c

By:

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;
Nilgün, Yildirim;
Zarnowski, Tomasz;
Pakravan, Mohammad;
Safieh, Leen Abu;
Jia, Liyun

Publication type:

Article

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Published in:

Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226

By:

Aung, Tin;
Chan, Anita S Y;
Perera, Shamira A;
Husain, Rahat;
Lee, Mei Chin;
Vithana, Eranga N;
Burdon, Kathryn P;
Astakhov, Yury S;
Astakhov, Sergei Y;
Akopov, Evgeny L;
Abu-Amero, Khaled K;
Zenteno, Juan C;
Guadarrama-Vallejo, Dalia;
Nilgün, Yildirim;
Yetkin, Yaz;
Oğuz, Çilingir;
Zarnowski, Tomasz;
Kosior-Jarecka, Ewa;
Lukasik, Urszula;
Pakravan, Mohammad

Publication type:

Article

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Published in:

Nature Genetics, 2014, v. 46, n. 10, p. 1120, doi. 10.1038/ng.3079

By:

Gharahkhani, Puya;
MacGregor, Stuart;
Hauser, Michael A;
Viswanathan, Ananth C;
Foster, Paul J;
McGuffin, Peter;
Topouzis, Fotis;
Graham, Stuart L;
Casson, Robert J;
Chehade, Mark;
White, Andrew J;
Healey, Paul R;
Wang, Jie Jin;
Mitchell, Paul;
Klebe, Sonja;
Goldberg, Ivan;
Radford-Smith, Graham;
Burdon, Kathryn P;
Mackey, David A;
Craig, Jamie E

Publication type:

Article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Published in:

Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506

By:

Lu, Yi;
Vitart, Veronique;
Burdon, Kathryn P;
Khor, Chiea Chuen;
Bykhovskaya, Yelena;
Mirshahi, Alireza;
Hewitt, Alex W;
Koehn, Demelza;
Hysi, Pirro G;
Ramdas, Wishal D;
Zeller, Tanja;
Vithana, Eranga N;
Cornes, Belinda K;
Tay, Wan-Ting;
Tai, E Shyong;
Cheng, Ching-Yu;
Liu, Jianjun;
Foo, Jia-Nee;
Saw, Seang Mei;
Thorleifsson, Gudmar

Publication type:

Article

Aldose Reductase Gene Polymorphisms and Diabetic Retinopathy Susceptibility.

Published in:

Diabetes Care, 2010, v. 33, n. 8, p. 1834, doi. 10.2337/dc09-1893

By:

Abhary, Sotoodeh;
Burdon, Kathryn P.;
Laurie, Kate J.;
Thorpe, Stacey;
Landers, John;
Goold, Lucy;
Lake, Stewart;
Petrovsky, Nikolai;
Craig, Jamie E.

Publication type:

Article

Diabetic Retinopathy Is Associated With Elevated Serum Asymmetric and Symmetric Dimethylarginines.

Published in:

Diabetes Care, 2009, v. 32, n. 11, p. 2084, doi. 10.2337/dc09-0816

By:

Abhary, Sotoodeh;
Kasmeridis, Nicholas;
Burdon, Kathryn P.;
Kuot, Abraham;
Whiting, Malcolm J.;
Wai Ping Yew;
Petrovsky, Nikolai;
Craig, Jamie E.

Publication type:

Article

Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4042, doi. 10.3390/ijms23074042

By:

Gurung, Rajya L.;
FitzGerald, Liesel M.;
Liu, Ebony;
McComish, Bennet J.;
Kaidonis, Georgia;
Ridge, Bronwyn;
Hewitt, Alex W.;
Vote, Brendan J.;
Verma, Nitin;
Craig, Jamie E.;
Burdon, Kathryn P.

Publication type:

Article

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 2, p. 221, doi. 10.1080/13816810.2017.1413659

By:

Burdon, Kathryn P.;
Awadalla, Mona S.;
Mitchell, Paul;
Wang, Jie Jin;
White, Andrew;
Keane, Miriam C.;
Souzeau, Emmanuelle;
Graham, Stuart L.;
Goldberg, Ivan;
Healey, Paul R.;
Landers, John;
Mills, Richard A. D.;
Best, Stephen;
Hewitt, Alex W.;
Sharma, Shiwani;
Craig, Jamie E.

Publication type:

Article

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 2, p. 171, doi. 10.3109/13816810.2016.1164195

By:

Yazar, Seyhan;
Franchina, Maria;
Craig, Jamie E.;
Burdon, Kathryn P.;
Mackey, David A.

Publication type:

Article

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 710

By:

Hewitt, Alex W.;
Sharma, Shiwani;
Burdon, Kathryn P.;
Wang, Jie Jin;
Baird, Paul N.;
Dimasi, David P.;
Mackey, David A.;
Mitchell, Paul;
Craig, Jamie E.

Publication type:

Article

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases.

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183719

By:

Kuot, Abraham;
Hewitt, Alex W.;
Snibson, Grant R.;
Souzeau, Emmanuelle;
Mills, Richard;
Craig, Jamie E.;
Burdon, Kathryn P.;
Sharma, Shiwani

Publication type:

Article

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.

Published in:

Diabetes & Vascular Disease Research, 2016, v. 13, n. 2, p. 164, doi. 10.1177/1479164115616902

By:

Kaidonis, Georgia;
Craig, Jamie E.;
Gillies, Mark C.;
Abhary, Sotoodeh;
Essex, Rohan W.;
Chang, John H.;
Pal, Bishwanath;
Pefkianaki, Maria;
Daniell, Mark;
Lake, Stewart;
Petrovsky, Nikolai;
Burdon, Kathryn P.

Publication type:

Article

Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study.

Published in:

Diabetes & Vascular Disease Research, 2008, v. 5, n. 2, p. 128, doi. 10.3132/dvdr.2008.021

By:

Burdon, Kathryn P;
Lehtinen, Allison B;
Langefeld, Carl D;
Carr, J. Jeffrey;
Rich, Stephen S;
Freedman, Barry I;
Herrington, David;
Bowden, Donald W

Publication type:

Article

Human Lipoxygenase Pathway Gene Variation and Association with Markers of Subclinical Atherosclerosis in the Diabetes Heart Study.

Published in:

Mediators of Inflammation, 2010, v. 2010, p. 1, doi. 10.1155/2010/170153

By:

Burdon, Kathryn P.;
Rudock, Megan E.;
Lehtinen, Allison B.;
Langefeld, Carl D.;
Bowden, Donald W.;
Register, Thomas C.;
Yongmei Liu;
Freedman, Barry I.;
Carr, J. Jeffrey;
Hedrick, Catherine C.;
Rich, Stephen S.

Publication type:

Article

Association of α2-Heremans-Schmid Glycoprotein Polymorphisms with Subclinical Atherosclerosis.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 345, doi. 10.1210/jc.2006-0429

By:

Lehtinen, Allison B.;
Burdon, Kathryn P.;
Lewis, Joshua P.;
Langefeld, Carl D.;
Ziegler, Julie T.;
Rich, Stephen S.;
Register, Thomas C.;
Jeffrey Carr, J.;
Freedman, Barry I.;
Bowden, Donald W.

Publication type:

Article

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58510-9

By:

Strunz, Tobias;
Lauwen, Susette;
Kiel, Christina;
International AMD Genomics Consortium (IAMDGC);
Fritsche, Lars G.;
Igl, Wilmar;
Bailey, Jessica N. Cooke;
Grassmann, Felix;
Sengupta, Sebanti;
Bragg-Gresham, Jennifer L.;
Burdon, Kathryn P.;
Hebbring, Scott J.;
Wen, Cindy;
Gorski, Mathias;
Kim, Ivana K.;
Cho, David;
Zack, Donald;
Souied, Eric;
Scholl, Hendrik P. N.;
Bala, Elisa

Publication type:

Article

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995

By:

Zhang, Tianxiao;
Hua, Rui;
Xiao, Wei;
Burdon, Kathryn P.;
Bhattacharya, Shomi S.;
Craig, Jamie E.;
Shang, Dandan;
Zhao, Xiuli;
Mackey, David A.;
Moore, Anthony T.;
Luo, Yang;
Zhang, Jinsong;
Zhang, Xue

Publication type:

Article

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501

By:

Burdon, Kathryn P.;
Sharma, Shiwani;
Chen, Celia S.;
Dimasi, David P.;
Mackey, David A.;
Craig, Jamie E.

Publication type:

Article

Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37388-8

By:

Liu, Ebony;
Kaidonis, Georgia;
Gillies, Mark C.;
Abhary, Sotoodeh;
Essex, Rohan W.;
Chang, John H.;
Pal, Bishwanath;
Daniell, Mark;
Lake, Stewart;
Gilhotra, Jolly;
Petrovsky, Nikolai;
Hewitt, Alex W.;
Jenkins, Alicia;
Lamoureux, Ecosse L.;
Gleadle, Jonathan M.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Published in:

Nature Communications, 2017, v. 8, n. 3, p. 14898, doi. 10.1038/ncomms14898

By:

Afshari, Natalie A.;
Igo, Robert P.;
Morris, Nathan J.;
Stambolian, Dwight;
Sharma, Shiwani;
Pulagam, V. Lakshmi;
Dunn, Steven;
Stamler, John F.;
Truitt, Barbara J.;
Rimmler, Jacqueline;
Kuot, Abraham;
Croasdale, Christopher R.;
Qin, Xuejun;
Burdon, Kathryn P.;
Riazuddin, S. Amer;
Mills, Richard;
Klebe, Sonja;
Minear, Mollie A.;
Zhao, Jiagang;
Balajonda, Elmer

Publication type:

Article

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199178

By:

Lucas, Sionne E. M.;
Charlesworth, Jac C.;
Burdon, Kathryn P.;
Blackburn, Nicholas B.;
Zhou, Tiger;
Mills, Richard A.;
Souzeau, Emmanuelle;
Ridge, Bronwyn;
Craig, Jamie E.;
Ellis, Jonathan;
Leo, Paul;
Lindsay, Richard

Publication type:

Article

P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study.

Published in:

Kidney International, 2005, v. 68, n. 2, p. 741, doi. 10.1111/j.1523-1755.2005.00452.x

By:

Liu, Yongmei;
Burdon, Kathryn P.;
Langefeld, Carl D.;
Beck, Stephanie R.;
Wagenknecht, Lynne E.;
Rich, Stephen S.;
Bowden, Donald W.;
Freedman, Barry I.

Publication type:

Article

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

Published in:

Kidney International, 2005, v. 68, n. 1, p. 256, doi. 10.1111/j.1523-1755.2005.00400.x

By:

Dusel, Judith A. Engeler;
Burdon, Kathryn P.;
Hicks, Pamela J.;
Hawkins, Gregory A.;
Bowden, Donald W.;
Freedman, Barry I.

Publication type:

Article

Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.

Published in:

British Journal of Cancer, 2024, v. 130, n. 3, p. 347, doi. 10.1038/s41416-023-02485-7

By:

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Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

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Human Genetics, 2008, v. 124, n. 4, p. 379, doi. 10.1007/s00439-008-0555-z

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Burdon, Kathryn P.;
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Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice.

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International Journal of Retina & Vitreous, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40942-023-00453-0

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Gurung, Rajya L;
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Kaidonis, Georgia;
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Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.

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Nicol, Dianne;
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Expert Review of Ophthalmology, 2023, v. 18, n. 1, p. 71, doi. 10.1080/17469899.2023.2160320

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Jones, Johanna L;
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