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Clinical Genetics|August 29, 2024
Childhood glaucoma: Implications for genetic counsellingGiorgina Maxwell, Emmanuelle Souzeau
Clinical & Experimental Ophthalmology|February 10, 2025
Progress in Translating Glaucoma Genetics Into the Clinic: A ReviewAntonia Kolovos, Giorgina Maxwell, Emmanuelle Souzeau, et al.
European Journal of Human Genetics : EJHG|April 11, 2026
"We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic conditionGiorgina Maxwell, Erin Tutty, Belinda J Dawson-McClaren, et al.
Plos One|December 26, 2024
Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocolGiorgina Maxwell, Robert Allen, Simone Kelley, 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.
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. Glaucoma|October 23, 2025
A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion SyndromeAntonia Kolovos, Ayub Qassim, Henry N Marshall, et al.
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