Christel Vache

Montpellier, France

Last Updated: 09/26/2026

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Found 20 publications

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.

Journal: Stem cell research

Published: April 29, 2025

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Journal: European journal of human genetics : EJHG

Published: November 27, 2024

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Journal: European journal of human genetics : EJHG

Published: December 12, 2023

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Journal: European journal of human genetics : EJHG

Published: March 13, 2023

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.

Journal: Diagnostics (Basel, Switzerland)

Published: December 24, 2021

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

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

Journal: Stem cell research

Published: November 08, 2021

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Journal: International journal of molecular sciences

Published: October 29, 2021

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Journal: European journal of human genetics : EJHG

Published: October 01, 2021

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

Journal: Diagnostics (Basel, Switzerland)

Published: August 19, 2021

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

Journal: Frontiers in genetics

Published: April 17, 2020

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Last Updated: 09/26/2026