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O. Soukarieh · SciRah

Researcher profile · Semantic Scholar

O. Soukarieh

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O. Soukarieh — researcher profile on SciRah

h-index: 11
Works: 27
Citations: 799

Most-cited papers

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
O. Soukarieh, P. Gaildrat, Mohamad Hamieh, Aurélie Drouet +4 more
2016PLoS Genetics162 citations Open access
Semantic Scholar
Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
Marie-Gabrielle Duperron, M. Knol, Q. Le Grand, T. Evans +84 more
2021Nature Medicine101 citations Open access
Semantic Scholar
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
M. de la Hoya, O. Soukarieh, Irene López-Perolio, A. Vega +71 more
2016Human Molecular Genetics94 citations Open access
Semantic Scholar
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
R. Leman, B. Parfait, D. Vidaud, E. Girodon +32 more
2022Human Mutation89 citations Open access
Semantic Scholar
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
B. Harding, A. Moccia, S. Drunat, O. Soukarieh +10 more
2016American Journal of Human Genetics70 citations Open access
Semantic Scholar
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
R. Tricarico, Mariann Kasela, C. Mareni, B. Thompson +16 more
2017Human Mutation38 citations Open access
Semantic Scholar
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements
Hélène Tubeuf, C. Charbonnier, O. Soukarieh, André Blavier +5 more
2020Human Mutation35 citations Open access
Semantic Scholar
Small Open Reading Frames, How to Find Them and Determine Their Function
P. M. Kute, O. Soukarieh, H. Tjeldnes, D. Trégouët +1 more
2022Frontiers in Genetics34 citations Open access
Semantic Scholar
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
Laëtitia Meulemans, Romy L. S. Mesman, S. Caputo, S. Krieger +27 more
2020Cancer Research28 citations
Semantic Scholar
Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system
Hélène Tubeuf, S. Caputo, Teresa L. Sullivan, Julie Rondeaux +34 more
2020Cancer Research26 citations Open access
Semantic Scholar
Common and Rare 5′UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics
O. Soukarieh, C. Meguerditchian, C. Proust, D. Aïssi +3 more
2022Frontiers in Cardiovascular Medicine22 citations Open access
Semantic Scholar
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
O. Soukarieh, E. Tillet, C. Proust, Charlène Dupont +5 more
2023npj Genomic Medicine11 citations Open access
Semantic Scholar
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.
Misbah Razzaq, M. Iglesias, M. Ibrahim-Kosta, L. Goumidi +12 more
2020medRxiv11 citations Open access
Semantic Scholar
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant
P. Morange, F. Peiretti, L. Gourhant, C. Proust +11 more
2020medRxiv11 citations Open access
Semantic Scholar
A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Sylvie Labrouche-Colomer, O. Soukarieh, C. Proust, C. Mouton +10 more
2020Clinical science10 citations Open access
Semantic Scholar
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
P. Suchon, O. Soukarieh, Clara Bernard, Antoine Mariotti +13 more
2024Journal of Thrombosis and Haemostasis9 citations Open access
Semantic Scholar
Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
O. Soukarieh, P. Gaildrat, Mohamad Hamieh, Aurélie Drouet +4 more
2016PLoS Genetics9 citations Open access
Semantic Scholar
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
C. Saint-Martin, Marine Cauchois-Le Mière, Emily A. Rex, O. Soukarieh +8 more
2021Human Mutation8 citations Open access
Semantic Scholar
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism
Misbah Razzaq, M. Iglesias, M. Ibrahim-Kosta, L. Goumidi +14 more
2021Scientific Reports7 citations Open access
Semantic Scholar
MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files
D. Aïssi, O. Soukarieh, C. Proust, B. Jaspard-Vinassa +9 more
2020bioRxiv7 citations Open access
Semantic Scholar
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
T. Piñero, O. Soukarieh, Marion Rolain, K. Álvarez +17 more
2020Familial Cancer7 citations Open access
Semantic Scholar
Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5′ Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression
Mathilde Doisy, Aris Gaci, O. Soukarieh, C. Proust +2 more
2025Nucleic Acid Therapeutics5 citations
Semantic Scholar
Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5′UTRs
C. Meguerditchian, D. Baux, Thomas E. Ludwig, E. Génin +2 more
2024bioRxiv4 citations Open access
Semantic Scholar
A novel rare c. -39C>T mutation in the PROS1 5’UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein
Sylvie Labrouche-Colomer, O. Soukarieh, C. Proust, C. Mouton +10 more
2020bioRxiv3 citations Open access
Semantic Scholar
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia
C. Proust, C. Deiber, C. Meguerditchian, M. Tusseau +7 more
2025Communications Biology1 citations Open access
Semantic Scholar
Non-canonical regulation of Endoglin by rare and common variants: new molecular and clinical perspectives for Hereditary Hemorrhagic Telangiectasia and beyond
O. Soukarieh, G. Munsch, C. Deiber, C. Meguerditchian +11 more
2024medRxiv1 citations Open access
Semantic Scholar
Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
O. Soukarieh, E. Tillet, C. Proust, Charlène Dupont +5 more
2022bioRxiv0 citations Open access
Semantic Scholar

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