Author

Penelope M. Webb

QIMR Berghofer Medical Research InstituteORCID 0000-0003-0733-5930Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Anna de FazioiD· 2 shared Beth Y. KarlaniD· 2 shared David D.L. BowtelliD· 2 shared Ed DicksiD· 2 shared Ellen L. GoodeiD· 2 shared Georgia Chenevix‐TrenchiD· 2 shared Ian CampbelliD· 2 shared James D. BrentoniD· 2 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anna de FazioORCID

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3 papers

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

𝕏 PostBluesky

Genetic & Genomic MedicineMolecular CancerPeer-reviewedAug 5, 2024

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance

Ksenija Nesic, John J. Krais, Yifan Wang…·Lyndal S. Edwards

This study identifies secondary splice-site mutations in BRCA1 that drive exon skipping and PARP inhibitor resistance in ovarian and breast cancer.

36 citationstop 2%

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJun 16, 2020

Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer

Honglin Song, Ed Dicks, Jonathan P. Tyrer…·Paul D.P. Pharoah

53 citationstop 4%

humanwhole-exome sequencing

𝕏 PostBluesky