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Plos One|January 4, 2017
A Model to Investigate Single-Strand DNA Responses in G1 Human Cells via a Telomere-Targeted, Nuclease-Deficient CRISPR-Cas9 SystemRemco P Crefcoeur, Omar Zgheib, Thanos D Halazonetis
BMJ Case Reports|February 26, 2022
Drug-induced hypersensitivity syndrome with lupus manifestations due to mesalazine in a patient with ulcerative colitisOmar Zgheib, Véronique Trombert, Peter Jandus, et al.
Child Neurology Open|September 4, 2023
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding AssessmentOmar Zgheib, Andrea Trombetti, André Juillerat, et al.
Cancer Research|July 10, 2007
Phosphorylation of ATR-interacting protein on Ser239 mediates an interaction with breast-ovarian cancer susceptibility 1 and checkpoint functionMonica Venere, Andrew Snyder, Omar Zgheib, et al.
Molecular and Cellular Biology|December 10, 2008
An oligomerized 53BP1 tudor domain suffices for recognition of DNA double-strand breaksOmar Zgheib, Kristopher Pataky, Juergen Brugger, et al.
Clinical Genetics|January 31, 2025
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR SyndromeOmar Zgheib, Léa Jacques, Louise Frizon, et al.
BMJ Case Reports|May 2, 2024
Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlationsAriane Paoloni-Giacobino, Jean-Louis Blouin, Thierry Nouspikel, et al.
Pediatric Discovery|July 8, 2025
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencingOmar Zgheib, Lina Quteineh, Paloma Parvex, et al.
Communications Biology|December 8, 2023
Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutantOmar Zgheib, Kamonwan Chamchoy, Thierry Nouspikel, et al.
Clinical Genetics|January 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Omar Zgheib, Thomas Rio-Frio, Michel Guipponi, et al.
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