Corinne Baudoin

Montpellier, France

Last Updated: 09/26/2026

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Found 15 publications

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

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

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.

Journal: Scientific reports

Published: October 02, 2017

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Journal: Scientific reports

Published: September 12, 2017

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Journal: Ophthalmology

Published: March 18, 2016

Pattern dystrophy in a female carrier of RP2 mutation.

Pattern dystrophy in a female carrier of RP2 mutation.

Journal: Ophthalmic genetics

Published: February 18, 2016

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

Journal: Ophthalmology

Published: February 14, 2016

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Journal: Ophthalmology

Published: December 15, 2015

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

Journal: Human molecular genetics

Published: October 06, 2015

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Last Updated: 09/26/2026