Author

Judith Penkert

Medizinische Hochschule HannoverORCID 0000-0002-1375-507XUnclaimed 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 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Christian Peter KratziD· 2 shared Alise K. BlakeiD· 1 shared Amina AmadouiD· 1 shared Arnold J. LevineiD· 1 shared Barbara C. JonesiD· 1 shared Catherine GoudieiD· 1 shared Christopher PrevitiiD· 1 shared Claire FreyçoniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian Peter KratzORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Clinical OncologyPeer-reviewedOct 9, 2025

Germline variation in DNA damage repair genes in children with cancer: Unveiling SMARCAL1 as novel osteosarcoma predisposition gene

Ninad Oak, Wenan Chen, Alise K. Blake…·Richa Sharma

The paper identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.

10 citationstop 3%

humanwhole-exome sequencing

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Genetic & Genomic MedicineiSciencePeer-reviewedNov 1, 2024

Fine resolution clustering of TP53 variants into functional classes predicts cancer risks and spectra among germline variant carriers

Emilie Montellier, Nathanaël Lemonnier, Judith Penkert…·Pierre L. Hainaut

30 citationstop 3%

humanDNA methylation

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