Said El Shamieh
Said El Shamieh
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Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans
M Mangino, SJ Hwang, TD Spector, SC Hunt, M Kimura, AL Fitzpatrick, ...
Human molecular genetics 21 (24), 5385-5394, 2012
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
E Boulanger-Scemama, S El Shamieh, V Démontant, C Condroyer, ...
Orphanet journal of rare diseases 10 (1), 1-20, 2015
Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ...
The American Journal of Human Genetics 94 (4), 625-633, 2014
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
M Neuillé, S El Shamieh, E Orhan, C Michiels, A Antonio, ME Lancelot, ...
PloS one 9 (3), e90342, 2014
Molecular epidemiology in 591 Italian probands with nonsyndromic retinitis pigmentosa and usher syndrome
L Colombo, PE Maltese, M Castori, S El Shamieh, C Zeitz, I Audo, ...
Investigative Ophthalmology & Visual Science 62 (2), 13-13, 2021
MERTK mutation update in inherited retinal diseases
I Audo, S Mohand‐Said, E Boulanger‐Scemama, X Zanlonghi, ...
Human Mutation 39 (7), 887-913, 2018
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels
P Froguel, NC Ndiaye, A Bonnefond, N Bouatia-Naji, A Dechaume, ...
PloS one 7 (3), e32327, 2012
A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C [S]
MG Stathopoulou, A Bonnefond, NC Ndiaye, M Azimi-Nezhad, ...
Journal of lipid research 54 (2), 535-541, 2013
Genetic biomarkers of hypertension and future challenges integrating epigenomics
S El Shamieh, S Visvikis-Siest
Clinica chimica acta 414, 259-265, 2012
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel …
I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, ...
Human molecular genetics 23 (2), 491-501, 2014
Cardiovascular diseases and genome-wide association studies
NC Ndiaye, MA Nehzad, S El Shamieh, MG Stathopoulou, S Visvikis-Siest
Clinica Chimica Acta 412 (19-20), 1697-1701, 2011
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy
S El Shamieh, E Boulanger-Scemama, ME Lancelot, A Antonio, ...
BioMed research international 2015, 2015
Epistatic study reveals two genetic interactions in blood pressure regulation
NC Ndiaye, S El Shamieh, MG Stathopoulou, G Siest, MY Tsai, ...
BMC medical genetics 14 (1), 2, 2013
The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals
H Akhdar, S El Shamieh, O Musso, R Désert, W Joumaa, D Guyader, ...
PLoS One 11 (12), e0167543, 2016
Further insights into GPR179: Expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness
E Orhan, L Prézeau, S El Shamieh, KM Bujakowska, C Michiels, Y Zagar, ...
Investigative Ophthalmology & Visual Science 54 (13), 8041-8050, 2013
Klotho KL-VS genotype is involved in blood pressure regulation
R Nzietchueng, S El Shamieh, H Benachour, C Labat, B Herbeth, ...
Clinica Chimica Acta 412 (19), 1773-1777, 2011
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
C Méjécase, A Hummel, S Mohand‐Saïd, C Andrieu, S El Shamieh, ...
Clinical genetics 95 (2), 329-333, 2019
Cone dystrophy in patient with homozygous RP1L1 mutation
S Kikuchi, S Kameya, K Gocho, S El Shamieh, K Akeo, Y Sugawara, ...
BioMed Research International 2015, 2015
Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels
S El Shamieh, B Herbeth, M Azimi-Nezhad, H Benachour, C Masson, ...
Clinica chimica acta 413 (1-2), 34-38, 2012
Retinal phenotype of patients with isolated retinal degeneration due to CLN3 pathogenic variants in a French retinitis pigmentosa cohort
VM Smirnov, M Nassisi, CS Hernandez, C Méjécase, S El Shamieh, ...
JAMA ophthalmology 139 (3), 278-291, 2021
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