| 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 | 229 | 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 | 84 | 2015 |
| 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 | 59 | 2014 |
| 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 | 55 | 2014 |
| MERTK mutation update in inherited retinal diseases I Audo, S Mohand‐Said, E Boulanger‐Scemama, X Zanlonghi, ... Human Mutation 39 (7), 887-913, 2018 | 45 | 2018 |
| 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 | 44 | 2021 |
| 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 | 41 | 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 | 37 | 2013 |
| Genetic biomarkers of hypertension and future challenges integrating epigenomics S El Shamieh, S Visvikis-Siest Clinica chimica acta 414, 259-265, 2012 | 37 | 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 | 33 | 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 | 33 | 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 | 31 | 2015 |
| 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 | 26 | 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 | 26 | 2013 |
| 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 | 26 | 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 | 26 | 2011 |
| 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 | 23 | 2015 |
| 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 | 21 | 2019 |
| 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 | 21 | 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 | 18 | 2021 |
Jose Alain SahelSorbonne Université/ University of Pittsburgh School of MedicineVerified email at inserm.fr
