Christel Vaché

8PUBLICATIONS
25CO-AUTHORS
Genomics and transcriptomicsGene expression (incl. microarray and other genome-wide approaches)Gene mappingEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (8)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|Jun 05, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Marie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels

|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 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Christel Vaché, Nicolas Cubedo, Luke Mansard

|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

5 joint publications

Vasiliki Kalatzis

3 joint publications

David Baux

3 joint publications

Anne-Françoise Roux

2 joint publications

Luke Mansard