Author

Marianna E. Weener

Massachusetts Eye and Ear InfirmaryORCID 0000-0002-1089-4293Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberta A. H. J. ThiadensORCID

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2 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

In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases

Marianna E. Weener, Kevin Valestil, Emily Place, Sudeep Mehrotra, Daniel Navarro, Hilary Scott, Kinga M. Bujakowska, Eric A. Pierce

This study evaluates the pathogenicity of deep intronic variants in recessive retinal diseases using a high-throughput splicing assay, finding that 19.4% of variants activate cryptic exons.

bioRxiv · Sep 24, 2026 · PreprintGenetics