Now showing items 1-10 of 10

    • 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 ...
    • Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma 

      Awadalla, Mona S; Fingert, John H; Roos, Benjamin R; Chen, Simon; Holmes, Richard; Graham, Stuart L; Chehade, Mark; Galanopoulos, Anna; Ridge, Bronwyn; Souzeau, Emmanuelle; Zhou, Tiger; Siggs, Owen M; Hewitt, Alex W; Mackey, David A; Burdon, Kathryn Penelope; Craig, Jamie E (Elsevier, 2015-01)
      PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN A ...
    • CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma 

      Souzeau, Emmanuelle; Hayes, Melanie; Ruddle, Jonathan B; Elder, James E; Staffieri, Sandra E; Kearns, Lisa S; Mackey, David A; Zhou, Tiger; Ridge, Bronwyn; Burdon, Kathryn Penelope; Dubowsky, Andrew; Craig, Jamie E (Molecular Vision, 2015-02-11)
      Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New ...
    • 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)
    • Identification of a novel MYOC mutation, p.Trp373X, in a family with open angle glaucoma 

      Crawford, April; Souzeau, Emmanuelle; Agar, Ashish; Ridge, Bronwyn; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (Elsevier, 2014)
    • A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Ridge, Bronwyn; Dubowsky, Andrew; Ruddle, Jonathan B; Craig, Jamie E (BioMed Central, 2016)
      BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance ...
    • 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)
    • Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma 

      Souzeau, Emmanuelle; Glading, Jodi; Keane, Miriam Claire; Ridge, Bronwyn; Zhou, Tiger; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2014-01-09)
      Purpose: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is likely to prevent irreversible blindness ...
    • Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma 

      Souzeau, Emmanuelle; Glading, Jodi; Ridge, Bronwyn; Wechsler, David; Chehade, Mark; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (John Wiley & Sons, inc., 2015-01-28)
      Myocilin glaucoma is an autosomal dominant disorder leading to irreversible blindness, but early intervention can minimize vision loss and delay disease progression. The purpose of this study was to discuss the benefits ...
    • Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent 

      Lucas, Sionne E; Zhou, Tiger; Blackburn, Nicholas B; Mills, Richard Arthur; Ellis, Jonathan; Leo, Paul; Souzeau, Emmanuelle; Ridge, Bronwyn; Charlesworth, Jac C; Brown, Matthew A; Lindsay, Richard; Craig, Jamie E; Burdon, Kathryn Penelope (Investigative Ophthalmology and Visual Science, 2017-12)
      Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the ...