Fiona Boyard

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant et al. · Orphanet Journal of Rare Diseases · 2015 · 116 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Saïd El Shamieh, Marion Neuillé, Angélique Terray et al. · The American Journal of Human Genetics · 2014 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Élise Boulanger-Scemama, Saddek Mohand‐Saïd, Saïd El Shamieh et al. · International Journal of Molecular Sciences · 2019 · 33 citations · Full text

Medicine, Genetics, Ophthalmology +17

Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Etienne M. Schönbach, Rupert W. Strauß, Mohamed Ibrahim et al. · American Journal of Ophthalmology · 2020 · 31 citations · Full text

Medicine, Ophthalmology, Vision Science +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