Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

by Sionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, Richard A Mills, Jonathan Ellis, Paul Leo, Emmanuelle Souzeau, Bronwyn Ridge, Jac C Charlesworth, Richard Lindsay, Jamie E Craig, Kathryn P Burdon
Published 2018-01-01

Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance.

by Mona S Awadalla, Jude Fitzgerald, Nicholas H Andrew, Tiger Zhou, Henry Marshall, Ayub Qassim, Mark Hassall, Robert J Casson, Stuart L Graham, Paul R Healey, Ashish Agar, Anna Galanopoulos, Simon Phipps, Angela Chappell, John Landers, Jamie E Craig
Published 2018-01-01

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

by Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, David J Lynn, Kathryn P Burdon, Jamie E Craig
Published 2017-01-01