Author

Suzana Ezquina

University of CambridgeORCID 0000-0003-4903-0342Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna de FazioiD· 1 shared Beth Y. KarlaniD· 1 shared Charite Nicolette RickeriD· 1 shared Dale W. GarsediD· 1 shared David D.L. BowtelliD· 1 shared Ed DicksiD· 1 shared Ellen L. GoodeiD· 1 shared Florentia FostiraiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anna de FazioORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedFeb 12, 2025

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer

Ed Dicks, Jonathan P. Tyrer, Suzana Ezquina…·Paul D.P. Pharoah

This study uses exome sequencing to identify HELB as a novel susceptibility gene for non-high grade serous epithelial ovarian cancer, with a strong association found in genetic analyses.

4 citations

humanwhole-exome sequencing

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