Author

Julie De Zaeytijd

Ghent University HospitalORCID 0000-0003-4035-6389Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Bart Peter LeroyiD· 4 shared Elfride B. W. De BaereiD· 4 shared Carlo RivoltaiD· 3 shared Chris F. InglehearniD· 3 shared Gavin ArnoiD· 3 shared Alfredo Dueñas ReyiD· 2 shared Andrew R. WebsteriD· 2 shared Camiel J. F. BooniD· 2 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Bart Peter LeroyORCID

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Author profile →

4 papers

Recent·Most cited

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

𝕏 PostBluesky

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

𝕏 PostBluesky

GenomicsbioRxivPreprintMar 8, 2022

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal…·Elfride B. W. De Baere

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.

3 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 20, 2020

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor…·Chris F. Inglehearn

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

DOI 10.1101/2020.02.20.936880

humanwhole-exome sequencing

𝕏 PostBluesky