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List of works by David Baux

Audiological findings in 100 USH2 patients

scientific article published on 30 September 2011

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

scientific article

Choroideremia: towards a therapy

scientific article

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

scientific article published in December 2017

Correction: MobiDetails: online DNA variants interpretation

scientific article published on 10 December 2020

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots

scientific article published on 15 July 2014

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

scientific article published in March 2010

Experience of targeted Usher exome sequencing as a clinical test.

scientific article published on 10 July 2013

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

scientific article

Four-Year Follow-up of Diagnostic Service in USH1 Patients

scientific article published on 08 June 2011

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

scientific article published in 2022

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

scientific article published in January 2010

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

scientific article published on 22 April 2018

MobiDetails: online DNA variants interpretation

scientific article published on 07 November 2020

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

scientific article published on 01 August 2007

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

scientific article published on 16 April 2009

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

scientific article published on 01 June 2010

Non-USH2A mutations in USH2 patients

scientific article published on 06 January 2012

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

scientific article published on 01 November 2019

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

scientific article published in 2021

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

scientific article

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.

scientific article published on 13 February 2013

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

scientific article

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

scientific article

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

scientific article published on 16 November 2011

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

scientific article published in 2021

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