Marieke De Bruyne

11PUBLICATIONS
159CO-AUTHORS
Genetic immunologySensory systemsGene expression (incl. microarray and other genome-wide approaches)Hypersonic propulsion and hypersonic aerothermodynamicsMajor global burdens of disease
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Publications (11)

|May 08, 2026
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Apr 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Stéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman

|Mar 03, 2025
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Evi Duthoo, Elien Beyls, Lynn Backers

|Nov 18, 2022
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.

Leslie Naesens, Santoshi Muppala, Dhiraj Acharya

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Frequent Collaborators

6 joint publications

Elfride De Baere

4 joint publications

Jens Staal

3 joint publications

Rudi Beyaert

3 joint publications

Miriam Bauwens