Concepedia

Samer Khateb

SK

Statistics

Publications

28

Citations

1K

H-Index

21

Active since

2004

Affiliations

Hadassah Medical Center(Current)

Technion – Israel Institute of Technology

Hebrew University of Jerusalem

Tel Aviv University

National Eye Institute

Samer Khateb is an author at Hadassah Medical Center specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

2004–2024

28

Publications

28

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 · 90 citations

, , +13

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 · 89 citations · Full text

, , +17

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 · 80 citations · Full text

, , +15

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 · 73 citations · Full text

, , +10

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 · 68 citations · Full text

, , +13

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