Now showing items 1-15 of 15

    • Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Cooke-Bailey, Jessica N; Hewitt, Alex W; Law, Matthew H; Pasquale, Louis R; Kang, Jae Hee; Haines, Jonathan L; Souzeau, Emmanuelle; Zhou, Tiger; Siggs, Owen M; Landers, John; Awadalla, Mona S; Sharma, Shiwani; Mills, Richard Arthur; Ridge, Bronwyn; Lynn, David J; Casson, Robert J; Graham, Stuart L; Goldberg, Ivan; White, Andrew J; Healey, Paul R; Grigg, John RB; Lawlor, Mitchell; Mitchell, Paul; Ruddle, Jonathan B; Coote, Michael A; Walland, Mark; Best, Stephen; Vincent, Andrea; Gale, Jesse; Radford-Smith, Graham; Whiteman, David C; Montgomery, Grant W; Martin, Nicholas G; Mackey, David A; Wiggs, Janey L; MacGregor, Stuart; Craig, Jamie E; Neighborhood Consortium (Nature Publishing Group, 2018-02-18)
      Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the ...
    • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Fogarty, Rhys Daniel; Sharma, Shiwani; Hewitt, Alex W; Martin, Sarah; Law, Matthew H; Cremin, Katie; Cooke-Bailey, Jessica N; Loomis, Stephanie J; Pasquale, Louis R; Haines, Jonathan L; Hauser, Michael A; Viswanathan, Ananth C; McGuffin, Peter W; Topouzis, Fotis; Foster, Paul J; Graham, Stuart L; Casson, Robert J; Chehade, Mark; White, Andrew J; Zhou, Tiger; Souzeau, Emmanuelle; Landers, John; Fitzgerald, Jude T; Klebe, Sonja; Ruddle, Jonathan B; Goldberg, Ivan; Healey, Paul R; Wellcome Trust Case Control Consortium; Neighborhood Consortium; Mills, Richard Arthur; Wang, Jie Jin; Montgomery, Grant W; Martin, Nicholas G; Radford-Smith, Graham; Whiteman, David C; Brown, Matthew A; Wiggs, Janey L; Mackey, David A; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Nature Publishing Group, 2014-10)
      Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 ...
    • Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma 

      Zhou, Tiger; Souzeau, Emmanuelle; Siggs, Owen M; Landers, John; Mills, Richard Arthur; Goldberg, Ivan; Healey, Paul R; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Galanopoulos, Anna; Casson, Robert J; Ruddle, Jonathan B; Ellis, Jonathan; Leo, Jonathan; Brown, Matthew A; MacGregor, Stuart; Sharma, Shiwani; Burdon, Kathryn Penelope; Simmonds, Jamie E (Association for Research in Vision and Ophthalmology, Inc., 2017-03)
      Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden ...
    • DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma 

      Burdon, Kathryn Penelope; Awadalla, Mona S; Mitchell, Paul; Wang, Jie Jin; White, Andrew J; Keane, Miriam Claire; Souzeau, Emmanuelle; Graham, Stuart L; Goldberg, Ivan; Healey, Paul R; Landers, John; Mills, Richard Arthur; Best, Stephen; Hewitt, Alex W; Sharma, Shiwani; Craig, Jamie E (Taylor & Francis Group, 2017-12-21)
      Purpose: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which ...
    • Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma 

      Ng, Soo Khai; Burdon, Kathryn Penelope; Fitzgerald, Jude T; Zhou, Tiger; Fogarty, Rhys Daniel; Souzeau, Emmanuelle; Landers, John; Mills, Richard Arthur; Casson, Robert J; Ridge, Bronwyn; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Healey, Paul R; Wang, Jie Jin; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Association for Research in Vision and Ophthalmology (ARVO), 2016)
    • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 

      Burdon, Kathryn Penelope; MacGregor, Stuart; Hewitt, Alex W; Sharma, Shiwani; Chidlow, Glyn; Mills, Richard Arthur; Danoy, Patrick; Casson, Robert J; Viswanathan, Ananth C; Liu, Jimmy Z; Landers, John; Henders, Anjali K; Wood, John; Souzeau, Emmanuelle; Crawford, April; Leo, Paul; Wang, Jie Jin; Nyholt, Dale R; Martin, Nicholas G; Montgomery, Grant W; Mitchell, Paul; Brown, Matthew A; Mackey, David A; Craig, Jamie E (Nature Publishing Group, 2011)
      A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...
    • Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal tension glaucoma, and advanced glaucoma 

      Burdon, Kathryn Penelope; Crawford, April; Casson, Robert J; Hewitt, Alex W; Landers, John; Danoy, Patrick; Mackey, David A; Mitchell, Paul; Healey, Paul R; Craig, Jamie E (Elsevier, 2012-08-01)
      Patients with primary open-angle glaucoma (POAG) carrying the glaucoma risk alleles at the 9p21 locus have larger vertical cup-to-disc ratios and lower intraocular pressure (IOP) than POAG patients without these alleles. ...
    • Higher prevalence of Myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Dubowsky, Andrew; Grist, S; Usher, Bronwyn; Fitzgerald, Jude T; Crawford, April; Hewitt, Alex W; Goldberg, Ivan; Mills, Richard Arthur; Ruddle, Jonathan B; Landers, John; Mackey, David A; Craig, Jamie E (Elsevier, 2013-02-28)
      The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients. Myocilin screening in phenotypically selected cases can have a much higher ...
    • Incidence of visual impairment due to cataract, diabetic retinopathy and trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study 

      Landers, John; Henderson, Timothy R; Craig, Jamie E (Wiley-Blackwell, 2012-10-29)
      Background: To estimate the incidence and causes of visual impairment for the purposes of service provision among the indigenous Australian population within central Australia from its most common causes, namely cataract, ...
    • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process 

      Springelkamp, Henriet; Hohn, Rene; Mishra, Aniket; Hysi, Pirro; Khor, Chiea Chuen; Loomis, Stephanie J; Cooke-Bailey, Jessica N; Gibson, Jane; Thorleifsson, Gudmar; Janssen, Sarah F; Luo, Xiaoyan; Ramdas, Wishal D; Vithana, Eranga; Nongpiur, Monisha E; Montgomery, Grant W; Xu, Liang; Mountain, Jenny E; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Karssen, Lennart C; Sim, Kar Seng; van Leeuwen, Elisabeth M; Iglesias, Adriana; Verhoeven, Virginie J M; Hauser, Michael A; Loon, Seng Chee; Despriet, Dominiek D G; Nag, Abhishek; Venturini, Cristina; Sanfilippo, Paul Gerard; Schillert, Arne; Kang, Jae H; Landers, John; Jonasson, Fridbert; Cree, Angela J; van Koolwijk, Leonieke M E; Rivadeneira, Fernando; Souzeau, Emmanuelle; Jonsson, Vesteinn; Menon, Geeta; Weinreb, Robert Neal; de Jong, Paulus T V M; Oostra, Ben A; Uitterlinden, Andre G; Hofman, Albert; Ennis, Sarah; Thorsteinsdottir, Unnur; Burdon, Kathryn Penelope; Spector, Tim; Mirshahi, Alireza; Saw, Seangmei; Vingerling, Johannes R; Teo, Yik Ying; Haines, Jonathan L; Wolfs, Roger C W; Lemij, Hans G; Tai, E-Shyong; Jansonius, Nomdo M; Jonas, Jost B; Cheng, Ching-Yu; Aung, Tin; Viswanathan, Ananth C; Klaver, Caroline C W; Craig, Jamie E; MacGregor, Stuart; Mackey, David A; Lotery, Andrew J; Stefansson, Kari; Bergen, Arthur A B B; Young, Terri L; Wiggs, Janey L; Pfeiffer, Norbert; Wong, Tien Yin; Pasquale, Louis R; Hewitt, Alex W; Hammond, Christopher J (Nature Publishing Group, 2014-09)
      Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of ...
    • Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12 

      Awadalla, Mona S; Burdon, Kathryn Penelope; Souzeau, Emmanuelle; Landers, John; Hewitt, Alex W; Sharma, Shiwani; Craig, Jamie E (American Medical Association, 2014)
      IMPORTANCE: Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE: To perform a clinical and genetic investigation ...
    • Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss 

      Souzeau, Emmanuelle; Hayes, Melanie; Zhou, Tiger; Siggs, Owen M; Ridge, Bronwyn; Awadalla, Mona S; Smith, James E H; Hewitt, Alex W; Healey, Paul R; Goldberg, Ivan; Morgan, William H; Landers, John; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (American Medical Association, 2015-07)
    • Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma. 

      Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Siggs, Owen M; Goldberg, Ivan; Healey, Paul R; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Casson, Robert J; Landers, John; Mills, Richard Arthur; Ellis, Jonathan; Leo, Paul; Brown, Matthew A; MacGregor, Stuart; Burdon, Kathryn Penelope; Craig, Jamie E (Wiley, 2016-10-03)
    • Review of the prevalence of diabetic retinopathy in Indigenous Australians 

      Kaidonis, Georgia; Mills, Richard Arthur; Landers, John; Lake, Stewart; Burdon, Kathryn Penelope; Craig, Jamie E (2014)
      The purpose of this review is to compare the prevalence of diabetic retinopathy (DR) between Indigenous and non-Indigenous Australians with Diabetes Mellitus (DM). Australian DR prevalence data from 6 Indigenous studies ...
    • Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. 

      Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Landers, John; Mills, Richard Arthur; Goldberg, Ivan; Healey, Paul R; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Galanopoulos, Anna; Casson, Robert J; Ruddle, Jonathan; Ellis, Jonathan; Leo, Paul; Brown, Matthew A; MacGregor, Stuart; Lynn, David J; Burdon, Kathryn Penelope; Craig, Jamie E (PLOS, 2017)
      Purpose: To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants. Methods: A total of 122 and ...