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    Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family 

    Laurie, Kate; Dave, Alpana; Straga, Tania; Souzeau, Emmanuelle; Chataway, Timothy Kennion; Sykes, Matthew James; Casey, Theresa; Teo, Theodosia; Pater, John Brian; Craig, Jamie E; Sharma, Shiwani; Burdon, Kathryn Penelope (Wiley-Blackwell, 2013-03)
    Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
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    Intercellular adhesion molecule 1 mediates migration of Th1 and Th17 cells across human retinal vascular endothelium 

    Bharadwaj, A S; Schewitz-Bowers, L P; Wei, L; Lee, R W; Smith, Justine R (Association for Research in Vision and Ophthalmology, 2013)
    Purpose. Autoimmune inflammation of the retina causes vision loss in the majority of affected individuals. Th1 or Th17 cells initiate the disease on trafficking from the circulation into the eye across the retinal vascular ...
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    Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment 

    Souzeau, Emmanuelle; Goldberg, Ivan; Healey, Paul R; Mills, Richard Arthur; Landers, John; Graham, Stuart L; Grigg, John RB; Usher, Bronwyn; Straga, Tania; Crawford, April; Casson, Robert J; Morgan, William H; Ruddle, Jonathan B; Coote, Michael A; White, Andrew J; Stewart, James; Hewitt, Alex W; Mackey, David A; Burdon, Kathryn Penelope; Craig, Jamie E (Wiley-Blackwell, 2013-08-13)
    Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play ...
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    A Comparison of Lamellar and Penetrating Keratoplasty Outcomes: A Registry Study 

    Coster, Douglas John; Lowe, Marie; Keane, Miriam Claire; Williams, Keryn Anne (Elsevier, 2014-02)
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    Novel therapeutic approaches for corneal disease 

    Williams, Keryn Anne; Irani, Yazad; Klebe, Sonja (Discovery Medicine, 2013-05-24)
    Congenital and acquired corneal opacities, and diseases of the ocular surface, are blinding conditions that impose physical, psychological, and financial constraints upon the sufferer. In the past, corneal and corneal ...
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    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 ...
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    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 ...
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    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)
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    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 ...
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    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)
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    AuthorCraig, Jamie E (77)Burdon, Kathryn Penelope (62)Souzeau, Emmanuelle (53)Hewitt, Alex W (44)Pesudovs, Konrad (31)Mackey, David A (30)Mills, Richard Arthur (25)Williams, Keryn Anne (24)Landers, John (21)Sharma, Shiwani (20)... View MoreSubjectOpthalmology (21)Glaucoma (14)Genetics (8)Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (8)Ophthalmology (8)Keratoconus (7)blindness (5)cataracts (5)Corneal grafting (5)Corneal transplantation (5)... View MoreDate Issued2019 (9)2018 (16)2017 (22)2016 (25)2015 (17)2014 (11)2013 (18)2012 (24)2011 (11)2010 (3)

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