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Frontiers in Genetics
|
February 14, 2022
Small Open Reading Frames, How to Find Them and Determine Their Function
Preeti Madhav Kute, Omar Soukarieh, Håkon Tjeldnes, et al.
Nucleic Acid Therapeutics
|
November 17, 2025
Targeting a Pathogenic Variant Creating an Upstream AUG in the <i>ENG</i> 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression
Mathilde Doisy, Aris Gaci, Omar Soukarieh, et al.
NAR Genomics and Bioinformatics
|
March 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, et al.
Frontiers in Cardiovascular Medicine
|
April 7, 2022
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics
Omar Soukarieh, Caroline Meguerditchian, Carole Proust, et al.
Plos Genetics
|
January 14, 2016
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, et al.
Human Mutation
|
August 3, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements
Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, et al.
NPJ Genomic Medicine
|
October 17, 2023
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
Omar Soukarieh, Emmanuelle Tillet, Carole Proust, et al.
Communications Biology
|
July 18, 2025
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia
Carole Proust, Clémence Deiber, Caroline Meguerditchian, et al.
Human Mutation
|
January 7, 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, et al.
Clinical Science (London, England : 1979)
|
May 20, 2020
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, Omar Soukarieh, Carole Proust, et al.
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Search research articles
Search
Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Frontiers in Genetics
|
February 14, 2022
Small Open Reading Frames, How to Find Them and Determine Their Function
Preeti Madhav Kute, Omar Soukarieh, Håkon Tjeldnes, et al.
Nucleic Acid Therapeutics
|
November 17, 2025
Targeting a Pathogenic Variant Creating an Upstream AUG in the <i>ENG</i> 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression
Mathilde Doisy, Aris Gaci, Omar Soukarieh, et al.
NAR Genomics and Bioinformatics
|
March 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, et al.
Frontiers in Cardiovascular Medicine
|
April 7, 2022
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics
Omar Soukarieh, Caroline Meguerditchian, Carole Proust, et al.
Plos Genetics
|
January 14, 2016
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, et al.
Human Mutation
|
August 3, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements
Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, et al.
NPJ Genomic Medicine
|
October 17, 2023
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
Omar Soukarieh, Emmanuelle Tillet, Carole Proust, et al.
Communications Biology
|
July 18, 2025
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia
Carole Proust, Clémence Deiber, Caroline Meguerditchian, et al.
Human Mutation
|
January 7, 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, et al.
Clinical Science (London, England : 1979)
|
May 20, 2020
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, Omar Soukarieh, Carole Proust, et al.
Page
of 3