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Author/Creator Baux, David

1. A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene. Issue 5 (5th April 2013)

Authors:
Raynal, Caroline; Baux, David; Theze, Corinne; Bareil, Corinne; Taulan, Magali; Roux, Anne‐Françoise; Claustres, Mireille; Tuffery‐Giraud, Sylvie; des Georges, Marie
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
774
Record Type:
Journal Article
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2. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Issue 10 (28th June 2017)

Authors:
Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie‐Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie‐Claire; Reboul, Mari...
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1297
Record Type:
Journal Article
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3. Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots. Issue 10 (15th July 2014)

Authors:
Baux, David; Blanchet, Catherine; Hamel, Christian; Meunier, Isabelle; Larrieu, Lise; Faugère, Valérie; Vaché, Christel; Castorina, Pierangela; Puech, Bernard; Bonneau, Dominique; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1179
Record Type:
Journal Article
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4. Experience of targeted Usher exome sequencing as a clinical test. Issue 1 (10th July 2013)

Authors:
Besnard, Thomas; García‐García, Gema; Baux, David; Vaché, Christel; Faugère, Valérie; Larrieu, Lise; Léonard, Susana; Millan, Jose M.; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 1(2014:Jan.)
Page Start:
30
Record Type:
Journal Article
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5. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Issue 1 (8th November 2018)

Authors:
Vaché, Christel; Torriano, Simona; Faugère, Valérie; Erkilic, Nejla; Baux, David; Garcia‐Garcia, Gema; Hamel, Christian P.; Meunier, Isabelle; Zanlonghi, Xavier; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
31
Record Type:
Journal Article
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6. The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders. Issue 2 (15th November 2019)

Authors:
Sasorith, Souphatta; Baux, David; Bergougnoux, Anne; Paulet, Damien; Lahure, Alan; Bareil, Corinne; Taulan‐Cadars, Magali; Roux, Anne‐Françoise; Koenig, Michel; Claustres, Mireille; Raynal, Caroline
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
375
Record Type:
Journal Article
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