Author

Kristina N. Whisenhunt

University of Wisconsin–MadisonORCID 0000-0003-2412-7666Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:database / resource· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 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

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 31, 2026

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

Stuart W. J. Tompson, Patricia S. Graham, Johanna S. Hadler…·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.

DOI 10.64898/2026.07.29.26359282

humanwhole-exome sequencing

𝕏 PostBluesky

Molecular BiologybioRxivPreprintAug 26, 2025

Leveraging single-cell transcriptomics of developing rat ocular outflow tissues to prioritize congenital glaucoma candidate genes

Sean M. Martin, Kristina N. Whisenhunt, Stuart W. J. Tompson

This study uses single-cell RNA sequencing of developing rat ocular tissues to identify candidate genes for congenital glaucoma.

DOI 10.1101/2025.08.26.672439

ratscRNA-seq

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Genetic & Genomic MedicineHuman MutationPeer-reviewedOct 11, 2022

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…·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.

28 citations

humanGWAS summary statistics

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