Concepedia
Statistics
Publications
27
Citations
990
H-Index
21
Active since
2004
Affiliations
Hadassah Medical Center(Current)
Technion – Israel Institute of Technology
Hebrew University of Jerusalem
Tel Aviv University
University College London
Samer Khateb is an author at Hadassah Medical Center specializing in medicine, molecular genetics, and genetics.
Top concepts
MedicineGeneticsMolecular GeneticsPathologyCell BiologyOphthalmologySystems BiologySignal TransductionGenomicsEngineering
Publications per year
2004–2024
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, Liliana Mizrahi‐Meissonnier et al. · Journal of Medical Genetics · 2014 · 89 citations
The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA
Samer Khateb, Pnina Weisman-Shomer, I. Hershco-Shani et al. · Nucleic Acids Research · 2007 · 87 citations · Full text
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
Avigail Beryozkin, Elia Shevah, Adva Kimchi et al. · Scientific Reports · 2015 · 78 citations · Full text
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
Samer Khateb, Björn Kowalewski, Nicola Bedoni et al. · Genetics in Medicine · 2018 · 70 citations · Full text
Mendelian Disorder, Enzymatic Activity, Genetic Disorder +7
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
Samer Khateb · Nucleic Acids Research · 2004 · 67 citations · Full text
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