| The tetraplex (CGG) n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA S Khateb, P Weisman-Shomer, I Hershco-Shani, AL Ludwig, M Fry Nucleic acids research 35 (17), 5775-5788, 2007 | 93 | 2007 |
| The cationic porphyrin TMPyP4 destabilizes the tetraplex form of the fragile X syndrome expanded sequence d(CGG)n P Weisman‐Shomer, E Cohen, I Hershco, S Khateb, O Wolfovitz‐Barchad, ... Nucleic acids research 31 (14), 3963-3970, 2003 | 90 | 2003 |
| A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome S Khateb, L Zelinger, L Mizrahi-Meissonnier, C Ayuso, RK Koenekoop, ... Journal of medical genetics 51 (7), 460-469, 2014 | 88 | 2014 |
| Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family S Khateb, P Weisman-Shomer, I Hershco, LA Loeb, M Fry Nucleic acids research 32 (14), 4145-4154, 2004 | 80 | 2004 |
| Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies A Beryozkin, E Shevah, A Kimchi, L Mizrahi-Meissonnier, S Khateb, ... Scientific reports 5 (1), 13187, 2015 | 72 | 2015 |
| Homodimeric MyoD preferentially binds tetraplex structures of regulatory sequences of muscle-specific genes S Etzioni, A Yafe, S Khateb, P Weisman-Shomer, E Bengal, M Fry Journal of Biological Chemistry 280 (29), 26805-26812, 2005 | 59 | 2005 |
| A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans S Khateb, B Kowalewski, N Bedoni, M Damme, N Pollack, A Saada, ... Genetics in medicine 20 (9), 1004-1012, 2018 | 54 | 2018 |
| Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss P Namburi, R Ratnapriya, S Khateb, CH Lazar, Y Kinarty, A Obolensky, ... The American Journal of Human Genetics 99 (3), 777-784, 2016 | 47 | 2016 |
| Docking interactions of the JNK scaffold protein WDR62 K Cohen-Katsenelson, T Wasserman, S Khateb, AJ Whitmarsh, ... Biochemical Journal 439 (3), 381-392, 2011 | 39 | 2011 |
| Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late … S Khateb, L Zelinger, T Ben-Yosef, S Merin, O Crystal-Shalit, M Gross, ... PLoS One 7 (12), e51566, 2012 | 36 | 2012 |
| Nonsyndromic retinitis pigmentosa in the Ashkenazi Jewish population: genetic and clinical aspects A Kimchi, S Khateb, R Wen, Z Guan, A Obolensky, A Beryozkin, ... Ophthalmology 125 (5), 725-734, 2018 | 35 | 2018 |
| Longitudinal clinical follow-up and genetic spectrum of patients with rod-cone dystrophy associated with mutations in PDE6A and PDE6B S Khateb, M Nassisi, KM Bujakowska, C Méjécase, C Condroyer, ... JAMA ophthalmology 137 (6), 669-679, 2019 | 34 | 2019 |
| Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data S Khateb, M Hanany, A Khalaileh, A Beryozkin, S Meyer, A Abu-Diab, ... Journal of medical genetics 53 (9), 600-607, 2016 | 34 | 2016 |
| Elschnig's spots in the acute and remission stages in preeclampsia: spectral-domain optical coherence tomographic features A AlTalbishi, S Khateb, R Amer European Journal of Ophthalmology 25 (5), e84-e87, 2015 | 28 | 2015 |
| Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa M Weisz Hubshman, S Broekman, E van Wijk, F Cremers, A Abu-Diab, ... Human molecular genetics 27 (4), 614-624, 2018 | 27 | 2018 |
| The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies A Abu Diab, A AlTalbishi, B Rosin, M Kanaan, L Kamal, A Swaroop, ... Acta ophthalmologica 97 (6), e877-e886, 2019 | 21 | 2019 |
| KCNV2-associated retinopathy: genetics, electrophysiology, and clinical course—KCNV2 Study Group Report 1 M Georgiou, AG Robson, K Fujinami, SM Leo, A Vincent, F Nasser, ... American journal of ophthalmology 225, 95-107, 2021 | 20 | 2021 |
| Analysis of the aqueous humor proteome in patients with age-related macular degeneration B Rinsky, G Beykin, M Grunin, R Amer, S Khateb, L Tiosano, D Almeida, ... Investigative Ophthalmology & Visual Science 62 (10), 18-18, 2021 | 19 | 2021 |
| Phenotypic characteristics of rod–cone dystrophy associated with MYO7A mutations in a large French cohort S Khateb, S Mohand-Saïd, M Nassisi, C Bonnet, AF Roux, C Andrieu, ... Retina 40 (8), 1603-1615, 2020 | 18 | 2020 |
| KCNV2-associated retinopathy: Detailed retinal phenotype and structural endpoints—KCNV2 Study group report 2 M Georgiou, K Fujinami, A Vincent, F Nasser, S Khateb, ME Vargas, ... American journal of ophthalmology 230, 1-11, 2021 | 15 | 2021 |
