Author

Marieke De Bruyne

Ghent University HospitalORCID 0000-0001-6636-5537Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:whole-exome sequencing· 4 Approach:statistical model· 3 Research Focus:variant calling· 3 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Elfride B. W. De BaereiD· 4 shared Miriam BauwensiD· 4 shared Bart Peter LeroyiD· 2 shared Carlo RivoltaiD· 2 shared Frans P.M. CremersiD· 2 shared Frauke CoppietersiD· 2 shared Stijn Van de SompeleiD· 2 shared Alberta A. H. J. ThiadensiD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Elfride B. W. De BaereORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2026

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

Charlotte Matton, Julie Van De Velde, Marieke De Bruyne…·Elfride B. W. De Baere

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

DOI 10.1155/humu/8478740

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 6, 2024

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert…·Frauke Coppieters

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

16 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintApr 24, 2023

Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease

Stéphanie S. Cornelis, Miriam Bauwens, Lonneke Haer‐Wigman…·Frans P.M. Cremers

The paper classifies 2,247 ABCA4 variants using updated ACMG/AMP guidelines to improve genetic diagnosis and counseling for Stargardt Disease.

5 citations

humanwhole-exome sequencing

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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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