Omar Zgheib
6PUBLICATIONS
13CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jan 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
|Sep 15, 2025
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.Omar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli
|Jul 08, 2025
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencing.Omar Zgheib, Lina Quteineh, Paloma Parvex
|Jan 11, 2024
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.Roberto Ricciardiello, Giulia Forleo, Lina Cipolla
|Dec 08, 2023
Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.Omar Zgheib, Kamonwan Chamchoy, Thierry Nouspikel
|Sep 04, 2023
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.Omar Zgheib, Andrea Trombetti, André Juillerat
Pageof 1
Frequent Collaborators
2 joint publications
Caterina Marconi
2 joint publications
Thierry Nouspikel
1 joint publications
Usa Boonyuen
1 joint publications
Roberto Ricciardiello
1 joint publications
Giulia Forleo
1 joint publications
Lina Cipolla
1 joint publications
Geraldine van Winckel
1 joint publications
Thanos D Halazonetis
1 joint publications
Simone Sabbioneda
1 joint publications
Paloma Parvex
