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JAMA Ophthalmology|May 24, 2014
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12Mona S Awadalla, Kathryn P Burdon, Emmanuelle Souzeau, et al.
Molecular Vision|January 11, 2013
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucomaThomas K Young, Emmanuelle Souzeau, Lance Liu, et al.
BMC Medical Genetics|May 10, 2017
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)Shari Javadiyan, Jamie E Craig, Shiwani Sharma, et al.
Molecular Vision|November 9, 2019
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRFOwen M Siggs, Emmanuelle Souzeau, James Breen, et al.
Clinical & Experimental Ophthalmology|September 8, 2024
Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucomaGeorgina L Hollitt, Miriam C Keane, Thi T Nguyen, et al.
Plos One|August 24, 2017
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian casesAbraham Kuot, Alex W Hewitt, Grant R Snibson, et al.
AJNR. American Journal of Neuroradiology|September 7, 2023
Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case SeriesSamuel White, Ajay Taranath, Prasad Hanagandi, et al.
BMC Research Notes|February 13, 2016
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataractShari Javadiyan, Jamie E Craig, Emmanuelle Souzeau, et al.
Molecular Vision|August 10, 2018
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophyEmmanuelle Souzeau, Jennifer A Thompson, Terri L McLaren, et al.
The British Journal of Ophthalmology|March 30, 2021
Normal-tension glaucoma is associated with cognitive impairmentSean Mullany, Lewis Xiao, Ayub Qassim, et al.
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