Emmanuelle Souzeau

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

The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.

Short-term psychosocial outcomes following disclosure of glaucoma polygenic risk score (INSiGHT Study)

This study examines the short-term psychosocial effects of receiving glaucoma polygenic risk scores, finding limited knowledge but small reductions in anxiety and stress, with higher-risk individuals showing more negative emotions.

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

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

Step change in glaucoma polygenic risk score performance enables clinical utility and disease prediction across all major ancestries

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores

This study identifies key considerations for accrediting polygenic risk score testing through stakeholder consultations and proposes checklists for quality assessment.

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

This study develops and evaluates patient-centred polygenic risk score reports for glaucoma screening using qualitative interviews to assess preferences and understanding.

Distinctive cross-ancestry genetic architecture for age-related macular degeneration

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

Attitudes towards glaucoma genetic risk assessment in unaffected individuals

This study surveys unaffected individuals' attitudes toward glaucoma polygenic risk testing and identifies factors associated with interest in the test.

SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL

The paper adapts ACMG/AMP variant curation guidelines for the myocilin gene, leading to changes in variant classification for 38% of tested variants.

Retinal ganglion cell-specific genetic regulation in primary open angle glaucoma

This study uses iPSC-derived retinal organoids to identify retinal ganglion cell-specific expression quantitative trait loci associated with primary open-angle glaucoma.

The genetic and clinical landscape of nanophthalmos in an Australian cohort

The paper identifies genetic variants associated with nanophthalmos in an Australian cohort, linking them to clinical features like axial length and hyperopia.

Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

The paper identifies a partial duplication of the CRYBB1-CRYBA4 locus as a cause of autosomal dominant congenital cataract through copy number variant analysis in a pedigree.