Author

Lara K. Holtes

Radboud University Medical CenterORCID 0009-0000-6337-4403Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Assay:scRNA-seq· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Béatrice BocquetiD· 3 shared Chris F. InglehearniD· 3 shared Christian GilisseniD· 3 shared Erica G. M. BooneniD· 3 shared Frans P.M. CremersiD· 3 shared Marianthi KaraliiD· 3 shared Robert Karel KoenekoopiD· 3 shared Sandro BanfiiD· 3 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Béatrice BocquetORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2026

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…·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.

DOI 10.64898/2026.09.23.26363559

humanwhole-genome sequencing

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GeneticsbioRxivPreprintJun 8, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar…·Carlo Rivolta

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

3 citations

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

human

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Genetic & Genomic MedicineFrontiers in Cell and Developmental BiologyPeer-reviewedFeb 3, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

29 citations

humanwhole-exome sequencing

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