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Experience of targeted Usher exome sequencing as a clinical test

 Thomas Besnard , Gema García-García , David Baux , Christel Vaché , Valérie Faugère , et al.
Molecular Genetics & Genomic Medicine, 2014, 2 (1), pp.30-43. ⟨10.1002/mgg3.25⟩
Article dans une revue hal-02433835v1

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

 David Baux , Valérie Faugère , Lise Larrieu , Sandie Le Guédard-Méreuze , Dalil Hamroun , et al.
Human Mutation, 2008, 29 (8), pp.E76 - E87. ⟨10.1002/humu.20780⟩
Article dans une revue hal-01681852v1

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

 Christel Vache , Thomas Besnard , Pauline Le Berre , Gema García-García , David Baux , et al.
Human Mutation, 2012, 33 (1), pp.104-108. ⟨10.1002/humu.21634⟩
Article dans une revue istex hal-02443312v1
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The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

 Christian P. Hamel , Simona Torriano , Nejla Erkilic , David Baux , Nicolas Cereso , et al.
Scientific Reports, 2018, 8 (1), pp.8234. ⟨10.1038/s41598-018-26481-7⟩
Article dans une revue hal-02320437v1

MobiDetails: online DNA variants interpretation

 David Baux , Charles van Goethem , Olivier Ardouin , Thomas Guignard , Anne Bergougnoux , et al.
European Journal of Human Genetics, 2021, 29 (2), pp.356-360. ⟨10.1038/s41431-020-00755-z⟩
Article dans une revue hal-03654257v1
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Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

 Natacha Martin , Anne Bergougnoux , Nesrine Baatallah , Benoit Chevalier , Jessica Varilh , et al.
Journal of Cystic Fibrosis, 2020, 20, ⟨10.1016/j.jcf.2020.12.003⟩
Article dans une revue hal-03176502v1
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Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

 M Humbertclaude , Sylvie Tuffery-Giraud , C. Bareil , C. Thèze , P Paulet , et al.
Pathologie Biologie, 2010, 58 (5), pp.387 - 395. ⟨10.1016/j.patbio.2009.09.008⟩
Article dans une revue hal-01670004v1
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Assessment of the latest NGS enrichment capture methods in clinical context

 Gema García-García , David Baux , Valérie Faugère , Mélody Moclyn , Michel Koenig , et al.
Scientific Reports, 2016, 6, pp.20948. ⟨10.1038/srep20948⟩
Article dans une revue hal-01879936v1

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

 Christel Vaché , Simona Torriano , Valérie Faugère , Nejla Erkilic , David Baux , et al.
Human Mutation, 2019, 40 (1), pp.31-35. ⟨10.1002/humu.23671⟩
Article dans une revue hal-02434908v1

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

 Caroline Raynal , David Baux , Corinne Thèze , Corinne Bareil , Magali Taulan , et al.
Human Mutation, 2013, 34 (5), pp.774-784. ⟨10.1002/humu.22291⟩
Article dans une revue istex hal-02441699v1
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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

 Luke Mansard , David Baux , Christel Vaché , Catherine Blanchet , Isabelle Meunier , et al.
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
Article dans une revue hal-03503346v1

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

 Mireille Claustres , Corinne Thèze , Marie Des Georges , David Baux , Emmanuelle Girodon , et al.
Human Mutation, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
Article dans une revue hal-02434844v1

Audiological findings in 100 USH2 patients

 C. Abadie , Christophe Blanchet , David Baux , L Larrieu , Thomas Besnard , et al.
Clinical Genetics, 2012, 82 (5), pp.433-438. ⟨10.1111/j.1399-0004.2011.01772.x⟩
Article dans une revue istex hal-02444096v1
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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

 Jean-Madeleine de Sainte Agathe , Mathilde Filser , Bertrand Isidor , Thomas Besnard , Paul Gueguen , et al.
Human Genomics, 2023, 17 (1), pp.7. ⟨10.1186/s40246-023-00451-1⟩
Article dans une revue hal-03984779v1
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Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

 Kevin Yauy , Charles van Goethem , Henri Pégeot , David Baux , Thomas Guignard , et al.
International Journal of Molecular Sciences, 2023, 24 (8), pp.7330. ⟨10.3390/ijms24087330⟩
Article dans une revue hal-04085195v1
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

 José M Millán , Elena Aller , Lise Larrieu , Teresa Jaijo , David Baux , et al.
European Journal of Human Genetics, 2010, n/a (n/a), pp.n/a-n/a. ⟨10.1038/ejhg.2010.14⟩
Article dans une revue hal-00509048v1
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

 Camille Cenni , Luke Mansard , Catherine Blanchet , David Baux , Christel Vaché , et al.
Diagnostics, 2021, 11 (9), pp.1636. ⟨10.3390/diagnostics11091636⟩
Article dans une revue hal-03783274v1
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Four-Year Follow-up of Diagnostic Service in USH1 Patients

 Anne-Françoise Roux , Valérie Faugère , Christel Vache , David Baux , Thomas Besnard , et al.
Investigative Ophthalmology & Visual Science, 2011, 52 (7), pp.4063-4071. ⟨10.1167/iovs.10-6869⟩
Article dans une revue hal-02444128v1
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

 Philippe Khau van Kien , David Baux , Nathalie Pallares-Ruiz , Corinne Baudoin , Aurélie Plancke , et al.
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
Article dans une revue hal-01669921v1

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

 Alessandro Liquori , Christel Vaché , David Baux , Catherine Blanchet , Christian P. Hamel , et al.
Human Mutation, 2016, 37 (2), pp.184 - 193. ⟨10.1002/humu.22926⟩
Article dans une revue istex hal-01885918v1
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Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

 Christel Vaché , Thomas Besnard , Catherine Blanchet , David Baux , Lise Larrieu , et al.
Human Mutation, 2010, 31 (6), pp.734. ⟨10.1002/humu.21255⟩
Article dans une revue hal-00552381v1
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First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

 Magali Taulan , Estelle Lopez , Caroline Guittard , Céline René , David Baux , et al.
Biochemical and Biophysical Research Communications, 2007, 361 (3), pp.775-81. ⟨10.1016/j.bbrc.2007.07.091⟩
Article dans une revue inserm-00305437v1

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

 Souphatta Sasorith , David Baux , Anne Bergougnoux , Damien Paulet , Alan Lahure , et al.
Human Mutation, 2019, 41 (2), pp.375-386. ⟨10.1002/humu.23941⟩
Article dans une revue hal-02547886v1

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

 Sandie Le Guédard-Méreuze , Christel Vache , David Baux , Valérie Faugère , Lise Larrieu , et al.
Human Mutation, 2010, 31 (3), pp.347-355. ⟨10.1002/humu.21193⟩
Article dans une revue istex hal-02444172v1

Non-USH2A mutations in USH2 patients.

 Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie , et al.
Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩
Article dans une revue inserm-00650795v1
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

 Cathy Liautard-Haag , Ghislain Durif , Charles Vangoethem , David Baux , Anaïs Louis , et al.
Scientific Reports, 2022, 12 (1), pp.11423. ⟨10.1038/s41598-022-15307-2⟩
Article dans une revue hal-03716132v2

Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

 David Baux , Catherine Blanchet , Christian P. Hamel , Isabelle Meunier , Lise Larrieu , et al.
Human Mutation, 2014, 35 (10), pp.1179-1186. ⟨10.1002/humu.22608⟩
Article dans une revue istex hal-02433818v1
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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

 Luke Mansard , Christel Vaché , Julie Bianchi , Corinne Baudoin , Isabelle Perthus , et al.
Diagnostics, 2022, 12 (1), pp.207. ⟨10.3390/diagnostics12010207⟩
Article dans une revue hal-03540505v1
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

 Mehdi Benkirane , Dylan da Cunha , Cecilia Marelli , Lise Larrieu , Mathilde Renaud , et al.
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac280⟩
Article dans une revue hal-03750598v1

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

 G. García-García , Thomas Besnard , David Baux , C. Vache , E. Aller , et al.
Molecular Vision, 2013, 19, pp.367-73
Article dans une revue hal-02442047v1
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