C. Baudoin

发表

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

J. Sahel, C. Béroud, M. Picot, 2015, American journal of ophthalmology.

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

G. Lenaers, C. Hamel, C. Delettre, 2016, Ophthalmology.

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

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

I. Audo, C. Hamel, S. Defoort-Dhellemmes, 2014, Ophthalmology.

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

G. Labesse, M. Gaestel, Salomon Y. Cohen, 2016, Human molecular genetics.

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

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

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

M. Koenig, Julie Bianchi, A. Roux, 2022, Diagnostics.

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

Julie Bianchi, A. Roux, C. Vaché, 2021, European Journal of Human Genetics.

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

M. Koenig, Julie Bianchi, A. Roux, 2021, European Journal of Human Genetics.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

Missense mutations of conserved glycine residues in fibrillin‐1 highlight a potential subtype of cb‐EGF‐like domains

C. Béroud, N. Chassaing, V. Drouin‐Garraud, 2010, Human mutation.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

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

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

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

A. Roux, C. Blanchet, C. Vaché, 2021, Diagnostics.

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

M. Cossée, A. Roux, G. Lina-Granade, 2023, European Journal of Human Genetics.

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

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2016, Ophthalmology.

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

J. Sahel, A. Gaudric, G. Lenaers, 2016, Ophthalmology.

Pattern dystrophy in a female carrier of RP2 mutation

C. Hamel, J. Bonnefont, I. Meunier, 2016, Ophthalmic genetics.

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

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.