Frauke Coppieters
6PUBLICATIONS
45CO-AUTHORS

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Publications (6)
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|Mar 04, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Merel Stemerdink, Tabea Riepe, Nick Zomer
|Jan 06, 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
|May 05, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne
|Jan 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.Giulia Ascari, Frank Peelman, Pietro Farinelli
|Jan 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.Sarah Naessens, Julie De Zaeytijd, Delfien Syx
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Frequent Collaborators
3 joint publications
Bart P Leroy
2 joint publications
Julie De Zaeytijd
2 joint publications
Caroline Van Cauwenbergh
2 joint publications
Frank Peelman
2 joint publications
Elfride De Baere
1 joint publications
Sarah Naessens
1 joint publications
Delfien Syx
1 joint publications
Roosmarijn E Vandenbroucke
1 joint publications
Frédéric Smeets
1 joint publications
Giulia Ascari