Anne-Françoise Roux
7PUBLICATIONS
55CO-AUTHORS
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Publications (7)
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|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.Kamal Khan, Erika Tavares, Katherine Bishara
|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
|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.Laurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo
|Apr 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.Kevin Yauy, Charles Van Goethem, Henri Pégeot
|Jan 21, 2022
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.Luke Mansard, Christel Vaché, Julie Bianchi
|Dec 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Luke Mansard, David Baux, Christel Vaché
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Frequent Collaborators
4 joint publications
Vasiliki Kalatzis
4 joint publications
David Baux
3 joint publications
Luke Mansard
3 joint publications
Christel Vaché
2 joint publications
Béatrice Bocquet
2 joint publications
Mireille Cossée
2 joint publications
Charles Van Goethem
1 joint publications
Kévin Mairot
1 joint publications
Erica E Davis
1 joint publications
Dalil Hamroun
