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Author/Creator Roux, Anne‐Françoise

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. CHM mutation spectrum and disease: An update at the time of human therapeutic trials. Issue 4 (19th February 2021)

Authors:
Zeitz, Christina; Nassisi, Marco; Laurent‐Coriat, Caroline; Andrieu, Camille; Boyard, Fiona; Condroyer, Christel; Démontant, Vanessa; Antonio, Aline; Lancelot, Marie‐Elise; Frederiksen, Helen; Kloeckener‐Gruissem, Barbara; El‐Shamieh, Said; Zanlonghi, Xavier; Meunier, Isabelle; Roux, Anne‐Françoi...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
323
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. Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. Issue 9 (8th August 2019)

Authors:
Lerat, Justine; Magdelaine, Corinne; Roux, Anne‐Françoise; Darnaud, Léa; Beauvais‐Dzugan, Hélène; Naud, Steven; Richard, Laurence; Derouault, Paco; Ghorab, Karima; Magy, Laurent; Vallat, Jean‐Michel; Cintas, Pascal; Bieth, Eric; Arne‐Bes, Marie‐Christine; Goizet, Cyril; Espil‐Taris, Caroline; Jou...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 9(2019)
Page Start:
n/a
Record Type:
Journal Article
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6. 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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7. 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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8. Usher syndrome in Denmark: mutation spectrum and some clinical observations. Issue 5 (28th June 2016)

Authors:
Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne‐Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 5(2016)
Page Start:
527
Record Type:
Journal Article
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