Miriam Bauwens

11PUBLICATIONS
220CO-AUTHORS
Genetic immunologyGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene mapping
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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.

|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 07, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Aug 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Miriam Bauwens, Vincent De Man, Isabelle Audo

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Frequent Collaborators

8 joint publications

Elfride De Baere

4 joint publications

Claire-Marie Dhaenens

3 joint publications

Marieke De Bruyne

3 joint publications

Stijn Van de Sompele