Author

Giorgina Maxwell

Flinders UniversityORCID 0000-0002-4837-2204Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emmanuelle SouzeauiD· 2 shared Jamie E. CraigiD· 2 shared Andrew DubowskyiD· 1 shared Cas SimonsiD· 1 shared Daniel G. MacArthuriD· 1 shared Edward FormainiiD· 1 shared Janey L. WiggsiD· 1 shared Joshua M. SchmidtiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emmanuelle SouzeauORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 1, 2026

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

Giorgina Maxwell, Robert Allen, Lucinda Hodge…·Emmanuelle Souzeau

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.

DOI 10.64898/2026.06.24.26356219

humanelectronic health records

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMar 26, 2026

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

Lucas A. Mitchell, Joshua M. Schmidt, Emmanuelle Souzeau…·Owen M. Siggs

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.

3 citationstop 1%

humanwhole-genome sequencing

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