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Anne-Françoise Roux

7PUBLICATIONS
55CO-AUTHORS
Cell and nuclear divisionGene mappingOther European languagesEpigenetics (incl. genome methylation and epigenomics)Vision science
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Journal

Publications (7)

Sort by Publication Date:
|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 <i>GSDME</i> 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 <i>MYO7A</i> and <i>USH2A</i>.

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

Frequent Collaborators

4 joint publications

Vasiliki Kalatzis

4 joint publications

David Baux

3 joint publications

Luke Mansard

3 joint publications

Christel Vaché

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