Researcher Profile

Christel Vaché

0000-0001-7076-9139

Publications

229

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article The Lancet Regional Health - Europe Mar 01, 2025

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie · Aldja Abderrahmane · Ouarda Abdous · Carine Abel +1086 more

10.1016/j.lanepe.2024.101183 32 citations

Journal Article European Journal of Human Genetics 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 · Luke Mansard +11 more

10.1038/s41431-024-01649-0 6 citations

Open Access Journal Article Stem Cell Research Apr 01, 2022

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Carla Sanjurjo-Soriano · Nejla Erkilic · Christel Vaché · Gregor Dubois +3 more

10.1016/j.scr.2022.102738 5 citations

Open Access Journal Article Molecular Therapy - Nucleic Acids Jan 01, 2016

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Radulfus WN Slijkerman · Christel Vaché · Margo Dona · Gema García-García +12 more

10.1038/mtna.2016.89 123 citations

Journal Article Human Mutation Jul 15, 2014

Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

David Baux · Catherine Blanchet · Christian Hamel · Isabelle Meunier +9 more

10.1002/humu.22608 63 citations

Publication Timeline

2025

2024

2022

2016

2014

Frequent Co-Authors

Anne-Francoise Roux

5×

Isabelle Meunier

3×

Mireille Claustres

2×

Claire-Marie Dhaenens

2×

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