Author

Melissa J MacPherson

University of AlbertaORCID 0000-0002-3382-7480Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:CRISPR screen· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abbye E. McEweniD· 1 shared Alexia BourgoisiD· 1 shared Allan Micheil InnesiD· 1 shared Andrew B. StergachisiD· 1 shared Andrew K. Solomon· 1 shared Angie Lichty· 1 shared Antonio VitobelloiD· 1 shared Boris KereniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbye E. McEwenORCID

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2 papers

Recent·Most cited

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Kury-Isidor Syndrome

Pankhuri Gupta, Elsa V. Balton, Malvika Tejura, Runjun D. Kumar, Matthew W. Snyder, Jeremy Stone, Rehan Marie Villani, Peter H. Byers, Chanprasert Sirisak, Ian A. Glass, Martha J. Horike-Pyne, Danny E. Miller, Jane E. Ranchalis, Elisabeth A. Rosenthal, Andrew K. Solomon, , Andrew B. Stergachis

The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.

medRxiv · May 21, 2026 · PreprintGenetic & Genomic Medicine

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson, Yi Ren, Yifan Yang, Yan Yan Or, Laura Williams, Christopher J. Gafuik, Chloé Quēlin, Boris Keren, Sarah Schuhmann, Georgia Vasileiou, Alexia Bourgois, Antonio Vitobello, Christophe Philippe, , Guang Yang

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

medRxiv · Jun 20, 2025 · PreprintGenetic & Genomic Medicine