Omar Soukarieh

8PUBLICATIONS
37CO-AUTHORS
Cardiovascular medicine and haematology not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Haematological tumoursCancer genetics
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Publications (8)

|Jul 18, 2025
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Carole Proust, Clémence Deiber, Caroline Meguerditchian

|Mar 20, 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.

Caroline Meguerditchian, David Baux, Thomas E Ludwig

|Oct 17, 2023
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Omar Soukarieh, Emmanuelle Tillet, Carole Proust

|Jan 19, 2021
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.

Pierre-Emmanuel Morange, Franck Peiretti, Lenaick Gourhant

|Jan 07, 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.

Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex

|Aug 03, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh

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Frequent Collaborators

4 joint publications

David-Alexandre Trégouët

4 joint publications

Alexandra Martins

2 joint publications

Pascaline Gaildrat

2 joint publications

Hélène Tubeuf