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Page 1
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Méjécase C, et al. Among authors: foussard m. Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30267408
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Khateb S, et al. Among authors: foussard m. JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367. JAMA Ophthalmol. 2019. PMID: 30998820 Free PMC article.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: foussard m. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: foussard m. Int J Mol Sci. 2021 Jul 23;22(15):7875. doi: 10.3390/ijms22157875. Int J Mol Sci. 2021. PMID: 34360642 Free PMC article.
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: foussard m. Int J Mol Sci. 2018 Jul 27;19(8):2196. doi: 10.3390/ijms19082196. Int J Mol Sci. 2018. PMID: 30060493 Free PMC article.