Roux AF - Search Results

1

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B. Derrick CJ, et al. Among authors: roux af. Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171. Hum Mol Genet. 2024. PMID: 37815931 Free PMC article.

2

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

Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF. Vaché C, et al. Among authors: roux af. Eur J Hum Genet. 2023 Jul;31(7):834-840. doi: 10.1038/s41431-023-01374-0. Epub 2023 May 12. Eur J Hum Genet. 2023. PMID: 37173411

3

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

Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: roux af. Eur J Hum Genet. 2022 Jan;30(1):34-41. doi: 10.1038/s41431-021-01010-9. Epub 2021 Dec 3. Eur J Hum Genet. 2022. PMID: 34857896 Free PMC article.

4

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

Mansard L, Vaché C, Bianchi J, Baudoin C, Perthus I, Isidor B, Blanchet C, Baux D, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: roux af. Diagnostics (Basel). 2022 Jan 15;12(1):207. doi: 10.3390/diagnostics12010207. Diagnostics (Basel). 2022. PMID: 35054374 Free PMC article.

5

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

Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: roux af. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.

6

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

Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugère V, Vaché C, Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: roux af. Hum Mutat. 2014 Oct;35(10):1179-86. doi: 10.1002/humu.22608. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24944099

7

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

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: roux af. Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30341801

8

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.

Le Guédard-Méreuze S, Vaché C, Molinari N, Vaudaine J, Claustres M, Roux AF, Tuffery-Giraud S. Le Guédard-Méreuze S, et al. Among authors: roux af. Hum Mutat. 2009 Sep;30(9):1329-39. doi: 10.1002/humu.21070. Hum Mutat. 2009. PMID: 19606495

9

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

García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF. García-García G, et al. Among authors: roux af. Mol Vis. 2013;19:367-73. Epub 2013 Feb 13. Mol Vis. 2013. PMID: 23441107 Free PMC article.

10

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.

Sanjurjo-Soriano C, Erkilic N, Vache C, Dubois G, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: roux af. Stem Cell Res. 2022 Apr;60:102738. doi: 10.1016/j.scr.2022.102738. Epub 2022 Feb 28. Stem Cell Res. 2022. PMID: 35248879 Free article.

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