Omar Zgheib

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 10 publications

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Journal: Clinical genetics
Published: December 03, 2025

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Journal: Clinical genetics
Published: August 11, 2025

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Journal: Clinical genetics
Published: October 16, 2024

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations.

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations.

Journal: BMJ case reports
Published: May 02, 2024

Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

Journal: Scientific reports
Published: November 19, 2023

A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencing.

A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencing.

Journal: Pediatric discovery
Published: September 18, 2023

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

Journal: Communications biology
Published: August 07, 2023

Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.

Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.

Journal: Child neurology open
Published: July 23, 2023

Drug-induced hypersensitivity syndrome with lupus manifestations due to mesalazine in a patient with ulcerative colitis.

Drug-induced hypersensitivity syndrome with lupus manifestations due to mesalazine in a patient with ulcerative colitis.

Journal: BMJ case reports
Published: February 26, 2022

A Model to Investigate Single-Strand DNA Responses in G1 Human Cells via a Telomere-Targeted, Nuclease-Deficient CRISPR-Cas9 System.

A Model to Investigate Single-Strand DNA Responses in G1 Human Cells via a Telomere-Targeted, Nuclease-Deficient CRISPR-Cas9 System.

Journal: PloS one
Published: July 27, 2016
Showing 1-10 of 10

Last Updated: 09/26/2026