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American Journal of Medical Genetics. Part A|November 24, 2020
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variantsEmmanuelle Souzeau, Owen M Siggs, Francesca Pasutto, et al.
JAMA Ophthalmology|July 15, 2021
Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle GlaucomaOwen M Siggs, Xikun Han, Ayub Qassim, et al.
Ophthalmology|December 21, 2016
Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk IndividualsEmmanuelle Souzeau, Kien Hou Tram, Martin Witney, et al.
Molecular Vision|March 10, 2015
CYP1B1 copy number variation is not a major contributor to primary congenital glaucomaEmmanuelle Souzeau, Melanie Hayes, Jonathan B Ruddle, et al.
Plos One|June 21, 2018
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descentSionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, et al.
Investigative Ophthalmology & Visual Science|December 12, 2017
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European DescentSionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, et al.
European Journal of Human Genetics : EJHG|March 27, 2026
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndromeLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Ophthalmology|March 5, 2013
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registryEmmanuelle Souzeau, Kathryn P Burdon, Andrew Dubowsky, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locusLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
G3 (Bethesda, Md.)|August 26, 2017
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern AustraliaShari Javadiyan, Jamie E Craig, Emmanuelle Souzeau, et al.
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