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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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    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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    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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    Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma 

    Gharahkhani, Puya; Burdon, Kathryn Penelope; Hewitt, Alex W; Law, Matthew H; Souzeau, Emmanuelle; Montgomery, Grant W; Radford-Smith, Graham; Mackey, David A; Craig, Jamie E; MacGregor, Stuart (Association for Research in Vision and Ophthalmology, 2015-08)
    PURPOSE: Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele ...
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    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 ...
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    Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye 

    Sharma, Shiwani; Burdon, Kathryn Penelope; Chidlow, Glyn; Klebe, Sonja; Crawford, April; Dimasi, David Paul; Dave, Alpana; Martin, Sarah; Javadiyan, Shahrbanou; Wood, John P M; Casson, Robert J; Danoy, Patrick; Griggs, Kim Marie; Hewitt, Alex W; Landers, John; Mitchell, Paul; Mackey, David A; Craig, Jamie E (Association for Research in Vision and Ophthalmology, 2012-06-06)
    Purpose. Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and ...
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    Burdon, Kathryn Penelope (69)
    Craig, Jamie E (66)Souzeau, Emmanuelle (41)Hewitt, Alex W (40)Mackey, David A (32)Sharma, Shiwani (22)Mills, Richard Arthur (19)Landers, John (17)Mitchell, Paul (15)Zhou, Tiger (15)... View MoreSubjectGlaucoma (8)Genetics (7)1113 Ophthalmology and Optometry (6)Opthalmology (5)Cataract (3)Genome-wide association studies (3)glaucoma (3)Ophthalmology (3)Genomics (2)keratoconus (2)... View MoreDate Issued2010 - 2019 (62)2004 - 2009 (7)

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