Author

Patricia S. Graham

Lions Eye InstituteORCID 0000-0002-8317-510XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex William HewittiD· 2 shared Andrew DubowskyiD· 2 shared David Anthony MackeyiD· 2 shared Emmanuelle SouzeauiD· 2 shared Francesca PasuttoiD· 2 shared Jamie E. CraigiD· 2 shared Johanna S. Hadler· 2 shared John D. HullemaniD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alex William HewittORCID

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2 papers

Recent·Most cited

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

Stuart W. J. Tompson, Patricia S. Graham, Johanna S. Hadler, Francesca Pasutto, Kristina N. Whisenhunt, Subhabrata Chakrabarti, Terri L. Young, Jamie E. Craig, Alex William Hewitt, Owen M. Siggs, John D. Hulleman, David Anthony Mackey, Kathryn P. Burdon, Andrew Dubowsky, Emmanuelle Souzeau

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.

medRxiv · Jul 31, 2026 · PreprintGenetic & Genomic Medicine

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

Kathryn P. Burdon, Patricia S. Graham, Johanna S. Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex William Hewitt, Owen M. Siggs, Kristina N. Whisenhunt, Terri L. Young, David Anthony Mackey, Andrew Dubowsky, Emmanuelle Souzeau

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

Human Mutation · Oct 11, 2022Peer-reviewedGenetic & Genomic Medicine