Yohann Jourdy

15PUBLICATIONS
14CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionMolecular evolutionEpigenetics (incl. genome methylation and epigenomics)
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Publications (15)

|Aug 11, 2025
Whole PROC Gene Sequencing to Explain Genetically Unresolved Protein C Deficiencies.

Laetitia Mauge, Carla Rial, Philippe De Mazancourt

|Jul 06, 2023
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A.

Amy Dericquebourg, Mathilde Fretigny, Alexandre Leuci

|Jul 27, 2022
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6.

Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny

|Sep 04, 2021
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Yohann Jourdy, Claire Bardel, Mathilde Fretigny

|Oct 23, 2020
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays.

Fanny Lassalle, Yohann Jourdy, Loubna Jouan

|Aug 20, 2020
Identification of new F8 deep intronic variations in patients with haemophilia A.

Amy Dericquebourg, Yohann Jourdy, Mathilde Fretigny

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Frequent Collaborators

2 joint publications

Emilie Jousselme

2 joint publications

Fanny Lassalle

1 joint publications

Claude Négrier

1 joint publications

Georges-Etienne Rivard