Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

por Souzeau, Emmanuelle, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Publicado 2019

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

por Souzeau, Emmanuelle, Weisschuh, Nicole, Craig, Jamie E., Pasutto, Francesca, Koch, Karl-Wilhelm
Publicado 2021

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

por Souzeau, Emmanuelle, Burdon, Kathryn P., Ridge, Bronwyn, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Publicado 2016

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

por Qassim, Ayub, Souzeau, Emmanuelle, Hollitt, Georgie, Hassall, Mark M., Siggs, Owen M., Craig, Jamie E.
Publicado 2021

Quality of life in children with glaucoma: a qualitative interview study in Australia

por Knight, Lachlan S W, Ridge, Bronwyn, Staffieri, Sandra E, Craig, Jamie E, Prem Senthil, Mallika, Souzeau, Emmanuelle
Publicado 2022

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

por Young, Thomas K., Souzeau, Emmanuelle, Liu, Lance, Kearns, Lisa S., Burdon, Kathryn P., Craig, Jamie E., Ruddle, Jonathan B.
Publicado 2012

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

por Souzeau, Emmanuelle, Burdon, Kathryn P., Mackey, David A., Hewitt, Alex W., Savarirayan, Ravi, Otlowski, Margaret, Craig, Jamie E.
Publicado 2016

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

por Javadiyan, Shari, Craig, Jamie E., Sharma, Shiwani, Lower, Karen M., Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P.
Publicado 2017

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

por Siggs, Owen M., Souzeau, Emmanuelle, Breen, James, Qassim, Ayub, Zhou, Tiger, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Publicado 2019

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases

por Kuot, Abraham, Hewitt, Alex W., Snibson, Grant R., Souzeau, Emmanuelle, Mills, Richard, Craig, Jamie E., Burdon, Kathryn P., Sharma, Shiwani
Publicado 2017

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

por Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.
Publicado 2016

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

por Souzeau, Emmanuelle, Thompson, Jennifer A., McLaren, Terri L., De Roach, John N., Barnett, Christopher P., Lamey, Tina M., Craig, Jamie E.
Publicado 2018

Normal-tension glaucoma is associated with cognitive impairment

por Mullany, Sean, Xiao, Lewis, Qassim, Ayub, Marshall, Henry, Gharahkhani, Puya, MacGregor, Stuart, Hassall, Mark M, Siggs, Owen M, Souzeau, Emmanuelle, Craig, Jamie E
Publicado 2022

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants

por Prem Senthil, Mallika, Knight, Lachlan S. W., Taranath, Deepa, Mackey, David A., Ruddle, Jonathan B., Chiang, Mark Y., Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.
Publicado 2022

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

por Hollitt, Georgina L., Siggs, Owen M., Ridge, Bronwyn, Keane, Miriam C., Mackey, David A., MacGregor, Stuart, Hewitt, Alex W., Craig, Jamie E., Souzeau, Emmanuelle
Publicado 2022

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related ma...

por Hollitt, Georgina L, Qassim, Ayub, Thomson, Daniel, Schmidt, Joshua M, Nguyen, Thi Thi, Landers, John, MacGregor, Stuart, Siggs, Owen M, Souzeau, Emmanuelle, Craig, Jamie E
Publicado 2023

PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia

por Souzeau, Emmanuelle, Rudkin, Adam K., Dubowsky, Andrew, Casson, Robert J., Muecke, James S., Mancel, Erica, Whiting, Mark, Mills, Richard A.D., Burdon, Kathryn P., Craig, Jamie E.
Publicado 2018

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

por Souzeau, Emmanuelle, Siggs, Owen M., Pasutto, Francesca, Knight, Lachlan S. W., Perez‐Jurado, Luis A., McGregor, Lesley, Le Blanc, Shannon, Barnett, Christopher P., Liebelt, Jan, Craig, Jamie E.
Publicado 2020

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

por Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
Publicado 2015

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

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