Saïd El Shamieh

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 · 114 citations · Full text

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Leonardo Colombo, Paolo Enrico Maltese, Marco Castori et al. · Investigative Ophthalmology & Visual Science · 2021 · 66 citations · Full text

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

Marion Neuillé, Saïd El Shamieh, Elise Orhan et al. · PLoS ONE · 2014 · 61 citations · Full text

Genetics, Optogenetics, Signaling Pathway +18

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 · 59 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

A Genome-Wide Association Study Identifies rs2000999 as a Strong Genetic Determinant of Circulating Haptoglobin Levels

Philippe Froguel, Ndeye Coumba Ndiaye, Amélie Bonnefond et al. · PLoS ONE · 2012 · 44 citations · Full text