Author

Mariska K. Slofstra

University Medical Center GroningenORCID 0000-0002-0400-0468Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Aafke EngwerdaiD· 1 shared Conny M.A. van Ravenswaaij‐ArtsiD· 1 shared Eleana RrakuiD· 1 shared Lennart F. JohanssoniD· 1 shared Morris A. SwertziD· 1 shared Trijnie Dijkhuizen· 1 shared Tyler D. MedinaiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aafke EngwerdaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2026

Developing Del2Phen: a novel phenotype description tool for chromosome deletions

Eleana Rraku, Tyler D. Medina, Conny M.A. van Ravenswaaij‐Arts…·Aafke Engwerda

Del2Phen is a software tool that generates phenotype descriptions for chromosome deletions by matching patients to genotypically similar individuals and using gene-phenotype relationships.

2 citations

humanstatistical model

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