Said El Shamieh

Said El Shamieh

Beirut Arab University - Beirut / Lebanon
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 520198
جامعة بيروت العربية
person_outline Said El Shamieh's MOST POPULAR ARTICLES
1-) Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humansM Mangino, SJ Hwang, TD Spector, SC Hunt, M Kimura, AL Fitzpatrick, ...Human molecular genetics 21 (24), 5385-5394, 20122122012
2-) Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationE Boulanger-Scemama, S El Shamieh, V Démontant, C Condroyer, ...Orphanet journal of rare diseases 10 (1), 1-20, 2015752015
3-) Molecular epidemiology in 591 Italian probands with nonsyndromic retinitis pigmentosa and usher syndromeL Colombo, PE Maltese, M Castori, S El Shamieh, C Zeitz, I Audo, ...Investigative Ophthalmology & Visual Science 62 (2), 13-13, 2021632021
4-) MERTK mutation update in inherited retinal diseasesI Audo, S Mohand‐Said, E Boulanger‐Scemama, X Zanlonghi, ...Human Mutation 39 (7), 887-913, 2018672018
5-) Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone DystrophyS El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ...The American Journal of Human Genetics 94 (4), 625-633, 2014642014