Now showing items 1-4 of 4

    • 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 ...
    • 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)
    • Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases 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; Lindsay, Richard; Craig, Jamie E; Burdon, Kathryn Penelope (Public LIbrary of Science, 2018-06-20)
      Many genes have been suggested as candidate genes for keratoconus based on their function, their proximity to associated polymorphisms or due to the identification of putative causative variants within the gene. However, ...
    • 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 ...