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American Journal of Human Genetics|April 6, 2019
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research ResultsYvonne Bombard, Kyle B Brothers, Sara Fitzgerald-Butt, et al.
Investigative Ophthalmology & Visual Science|July 2, 2016
Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension GlaucomaSoo Khai Ng, Kathryn P Burdon, Jude T Fitzgerald, et al.
Investigative Ophthalmology & Visual Science|March 11, 2017
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle GlaucomaTiger Zhou, Emmanuelle Souzeau, Owen M Siggs, et al.
JAMA Ophthalmology|May 8, 2015
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field LossEmmanuelle Souzeau, Melanie Hayes, Tiger Zhou, et al.
Plos One|March 7, 2017
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucomaTiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, et al.
Ophthalmology. Glaucoma|December 14, 2020
A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home TonometryAyub Qassim, Sean Mullany, Mona S Awadalla, et al.
Ophthalmology|February 23, 2020
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle GlaucomaOwen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, et al.
JAMA Ophthalmology|May 7, 2026
Association of FOXC1 Duplications With Juvenile Open-Angle GlaucomaGiorgina E Maxwell, Joshua M Schmidt, Antonia Kolovos, et al.
Molecular Genetics & Genomic Medicine|August 19, 2022
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohortEmmanuelle Souzeau, Owen M Siggs, Sean Mullany, et al.
Clinical Genetics|February 14, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortOwen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, et al.
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