Author

Dominika Oziębło

Institute of Physiology and Pathology of HearingORCID 0000-0002-3454-8002Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alberta A. H. J. ThiadensiD· 1 shared Anneke T. Vulto‐van SilfhoutiD· 1 shared Astrid S. PlompiD· 1 shared Camiel J. F. BooniD· 1 shared Carel B. HoyngiD· 1 shared Caroline C. W. KlaveriD· 1 shared Christian GilisseniD· 1 shared Elise HéoniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberta A. H. J. ThiadensORCID

Mutual co-authors in cluster

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1 paper

Recent·Most cited

A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases

Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, Galuh Astuti, Wolfgang Berger, Tamar Ben‐Yosef, Camiel J. F. Boon, Ronny C. Derks, Gwyneth Jane Farrar, Christian Gilissen, Elise Héon, Carel B. Hoyng, , Susanne Roosing

This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.

medRxiv · Sep 28, 2026 · PreprintGenetic & Genomic Medicine