Author

Monika Ołdak

Medical University of WarsawORCID 0000-0002-4216-9141Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Camiel J. F. BooniD· 2 shared Carel B. HoyngiD· 2 shared Caroline C. W. KlaveriD· 2 shared Christian GilisseniD· 2 shared Frans P.M. CremersiD· 2 shared Gwyneth Jane FarrariD· 2 shared L. Ingeborgh van den BorniD· 2 shared Petra LiškováiD· 2 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Camiel J. F. BoonORCID

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3 papers

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

Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population

Julia A. Sikorska, Maciej Robert Krawczynski, Magdalena Korwin, Monika Ołdak, Ewa Bartnik, Katarzyna Tońska, Agnieszka Piotrowska-Nowak

This study investigates two genetic risk factors for LHON in the Polish population and finds no association between mtDNA copy number or the PRICKLE3 variant and symptom manifestation.

Journal of Applied Genetics · Jun 27, 2026Peer-reviewedGenetic & Genomic Medicine

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, , Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

Genetics in Medicine · Apr 19, 2020Peer-reviewedGenetics