Claire-Marie Dhaenens
9PUBLICATIONS
199CO-AUTHORS
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Publications (9)
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|Feb 13, 2026
RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.Manon Fabard, Aurore Devos, Anaïs F Poncet
|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
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jul 05, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.Christel Vaché, Valérie Faugère, David Baux
|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi
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Frequent Collaborators
4 joint publications
Miriam Bauwens
4 joint publications
Elfride De Baere
2 joint publications
Petra Liskova
2 joint publications
Béatrice Bocquet
2 joint publications
Sandro Banfi
2 joint publications
Dror Sharon
2 joint publications
Carmen Ayuso
2 joint publications
Vasily Smirnov
2 joint publications
Erica G M Boonen
2 joint publications
Rebekkah J Hitti-Malin