Author

Henry N. Marshall

Flinders UniversityORCID 0000-0002-4425-2272Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:deep learning· 2 Research Focus:gene regulatory network inference· 2 Research Focus:GWAS / association mapping· 2 Assay:imaging· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alex William HewittiD· 3 shared Jamie E. CraigiD· 3 shared Puya GharahkhaniiD· 3 shared Stuart MacGregoriD· 3 shared Alberta A. H. J. ThiadensiD· 2 shared Alexander Karl-Georg SchusteriD· 2 shared Alicia SchulzeiD· 2 shared Anke WesseliusiD· 2 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alex William HewittORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 10, 2026

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

Asma M. Aman, Eslam Zaher, Santiago Díaz‐Torres…·Puya Gharahkhani

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

DOI 10.64898/2026.09.08.26362398

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2026

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

Asma M. Aman, Santiago Díaz‐Torres, Samantha Sze‐Yee Lee…·Puya Gharahkhani

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

1 citation

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsbioRxivPreprintNov 3, 2020

Automated AI labelling of optic nerve head enables new insights into cross-ancestry glaucoma risk and genetic discovery in over 280,000 images from the UK Biobank and Canadian Longitudinal Study on Aging

Xikun Han, Kaiah Steven, Ayub Qassim…·Stuart MacGregor

The paper uses AI to label optic nerve head images, enabling cross-ancestry genetic studies and identifying over 200 new loci associated with glaucoma risk.

3 citations

𝕏 PostBluesky