Omar Soukarieh

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Venues

INSERM U1079 (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

INSERM U1079 Oct 01 2012 - Oct 01 2015

France

PHD :: Medicine and pharmacy

Publications

Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David Alexandre Trégouët
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia. NPJ genomic medicine 8 (1) (2023)
Pierre-Emmanuel Morange, Franck Peiretti, Lénaïck Gourhant, Carole Proust, Omar Soukarieh, Anne-Sophie Pulcrano-Nicolas, Ganapathi Varma Saripella, Luca Stefanucci, Romaric Lacroix, Manal Ibrahim-Kosta, Catherine A Lemarié, Mattia Frontini, Marie-Christine Alessi, David Alexandre Trégouët, Francis Couturaud
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant. PLoS genetics 17 (1) (2021)
Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, Omar Soukarieh, Jean-Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frébourg, Pascaline Gaildrat, Show-Ling Shyng, Christine Bellanné-Chantelot, Alexandra Martins
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. Human mutation 42 (4) (2021)
Tamara Alejandra Piñero, Omar Soukarieh, Marion Rolain, Karin Alvarez, Francisco López-Köstner, Giovana Tardin Torrezan, Dirce Maria Carraro, Ivana Lucia De Oliveira Nascimento, Thaís Ferreira Bomfim, Taísa Manuela Bonfim Machado-Lopes, Juliana Côrtes Freitas, Maria Betânia Toralles, Kiyoko Abe Sandes, Benedito Mauro Rossi, Samuel Aguiar Junior, Joanna Goes Castro Meira, Mev Dominguez-Valentin, Pål Møller, Carlos Alberto Vaccaro, Alexandra Martins, Walter Hernán Pavicic
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing. Familial cancer 19 (4) (2021)
Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frebourg, Pascaline Gaildrat, Alexandra Martins
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements. Human mutation 41 (10) (2020)
Hélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux-Moncoutier, Julie Hauchard, Gaia Castelain, Alice Fiévet, Laëtitia Meulemans, Françoise Révillion, Mélanie Léoné, Nadia Boutry-Kryza, Capucine Delnatte, Marine Guillaud-Bataille, Linda Cleveland, Susan Reid, Eileen Southon, Omar Soukarieh, Aurélie Drouet, Daniela Di Giacomo, Myriam Vezain, Françoise Bonnet-Dorion, Violaine Bourdon, Hélène Larbre, Danièle Muller, Pascal Pujol, Fátima Vaz, Séverine Audebert-Bellanger, Chrystelle Colas, Laurence Venat Bouvet, Angela R Solano, Dominique Stoppat-Lyonnet, Claude Houdayer, Thierry Frebourg, Pascaline Gaildrat, Shyam K Sharan, Alexandra Martins
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System. Cancer research 80 (17) (2020)

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Publication Activity (10 Years)

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Omar Soukarieh