Omar Soukarieh

Bordeaux, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.

Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.

Journal: Nucleic acid therapeutics

Published: November 17, 2025

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Journal: Communications biology

Published: April 23, 2025

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs.

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs.

Journal: NAR genomics and bioinformatics

Published: November 12, 2024

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Journal: Journal of thrombosis and haemostasis : JTH

Published: September 08, 2024

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Journal: NPJ genomic medicine

Published: February 27, 2023

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Journal: Human mutation

Published: January 04, 2022

Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.

Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.

Journal: Frontiers in cardiovascular medicine

Published: December 21, 2021

Small Open Reading Frames, How to Find Them and Determine Their Function.

Small Open Reading Frames, How to Find Them and Determine Their Function.

Journal: Frontiers in genetics

Published: October 15, 2021

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

Journal: Nature medicine

Published: October 10, 2021

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

Journal: Scientific reports

Published: March 18, 2021

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Journal: Human mutation

Published: August 12, 2020

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.

Journal: PLoS genetics

Published: May 08, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026