Marine Foussard

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in<i>PDE6A</i>and<i>PDE6B</i>

Samer Khateb, Marco Nassisi, Kinga M. Bujakowska et al. · JAMA Ophthalmology · 2019 · 37 citations · Full text

Medicine, Genetics, Ophthalmology +17

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Marco Nassisi, Saddek Mohand‐Saïd, Claire‐Marie Dhaenens et al. · International Journal of Molecular Sciences · 2018 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé et al. · Human Mutation · 2019 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole exome sequencing resolves complex phenotype and identifies <i>CC2D2A</i> mutations underlying non‐syndromic rod‐cone dystrophy

Cécile Méjécase, Aurélie Hummel, Saddek Mohand‐Saïd et al. · Clinical Genetics · 2018 · 22 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Christina Zeitz, Cécile Méjécase, Christelle Michiels et al. · International Journal of Molecular Sciences · 2021 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17