Emmanuelle Souzeau

1 Flinders Drive
Bedford Park, SA 5042, Australia

Last Updated: 09/26/2026

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Found 98 publications

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.

Journal: JAMA ophthalmology

Published: May 07, 2026

Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals.

Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals.

Journal: Translational vision science & technology

Published: January 28, 2026

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome.

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome.

Journal: Ophthalmology. Glaucoma

Published: September 04, 2025

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Journal: European journal of human genetics : EJHG

Published: July 02, 2025

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Journal: medRxiv : the preprint server for health sciences

Published: June 12, 2025

REPLY.

REPLY.

Journal: Ophthalmology

Published: April 29, 2025

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Journal: Clinical & experimental ophthalmology

Published: October 17, 2024

Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.

Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.

Journal: PloS one

Published: September 29, 2024

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

Journal: Ophthalmology

Published: September 26, 2024

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening.

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening.

Journal: BMC medical genomics

Published: September 25, 2024

Childhood glaucoma: Implications for genetic counselling.

Childhood glaucoma: Implications for genetic counselling.

Journal: Clinical genetics

Published: May 09, 2024

Showing 1-12 of 98

Last Updated: 09/26/2026