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Yohann Jourdy (Y Jourdy)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 12

Top Venues

Haemophilia : the official journal of the World Federation of Hemophilia

Journal of thrombosis and haemostasis : JTH

International journal of laboratory hematology

PloS one

Faculté de Pharmacie de Lyon

Claude Bernard University Lyon 1 (PHD)

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

Affiliation History

Faculté de Pharmacie de Lyon Sep 1o 2018

France

Associate professor (Haemostasis&Thrombosis)

Education History

Claude Bernard University Lyon 1

France

PHD

Publications

Amy Dericquebourg, Mathilde Fretigny, Alexandre Leuci, Christophe Zawadzki, Yoann Huguenin, Sabine-Marie Castet, Yesim Dargaud, Christine Vinciguerra, Yohann Jourdy
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia (2023)
Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, Amy Dericquebourg, Damien Sanlaville, Christine Vinciguerra
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6. Journal of thrombosis and haemostasis : JTH 20 (10) (2022)
Yohann Jourdy, Claire Bardel, Mathilde Fretigny, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Marie-Laure Mathieu, Audrey Labalme, Damien Sanlaville, Patrick Edery, Christine Vinciguerra, Caroline Schluth-Bolard
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia (2021)
Yohann Jourdy, Mathilde Frétigny, Fanny Lassalle, David Lillicrap, Claude Négrier, Christine Vinciguerra
The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events. Journal of thrombosis and haemostasis : JTH 18 (5) (2020)
Amy Dericquebourg, Yohann Jourdy, Mathilde Fretigny, Anne Lienhart, Ségolène Claeyssens, Catherine Ternisien, Pierre Boisseau, Pierre-Simon Rohrlich, Claude Négrier, Christine Vinciguerra
Identification of new F8 deep intronic variations in patients with haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia 26 (5) (2020)
Fanny Lassalle, Yohann Jourdy, Loubna Jouan, Laura Swystun, Julie Gauthier, Christophe Zawadzki, Jenny Goudemand, Sophie Susen, Georges-Etienne Rivard, David Lillicrap
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays. Haemophilia : the official journal of the World Federation of Hemophilia 26 (6) (2020)
Stéphanie Désage, Emilie Jousselme, Sandra Le Quellec, Anne Lienhart, Christophe Nougier, Yesim Dargaud, Yohann Jourdy
The potential value of thrombin generation assay in the diagnosis of FV inhibitors. International journal of laboratory hematology 41 (5) (2019)
Stéphanie Désage, Emilie Jousselme, Claude Négrier, Christophe Nougier, Sandra Le Quellec, Yohann Jourdy
Single-center determination of reference factor II and factor X activity level values for the monitoring of vitamin K antagonist therapy. International journal of laboratory hematology 41 (5) (2019)
Yohann Jourdy, Mathilde Fretigny, Christophe Nougier, Claude Négrier, Dominique Bozon, Christine Vinciguerra
Splicing analysis of 26 F8 nucleotide variations using a minigene assay. Haemophilia : the official journal of the World Federation of Hemophilia 25 (2) (2019)
Nicolas Chatron, Caroline Schluth-Bolard, Mathilde Frétigny, Audrey Labalme, Gaëlle Vilchez, Sabine-Marie Castet, Claude Négrier, Damien Sanlaville, Christine Vinciguerra, Yohann Jourdy
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing. Journal of thrombosis and haemostasis : JTH 17 (7) (2019)
Yohann Jourdy, Nathalie Enjolras, Sandra Le Quellec, Jean Claude Bordet, Claude Négrier, Christine Vinciguerra, Yesim Dargaud
Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin? PloS one 12 (11) (2017)
Yohann Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling. Haemophilia : the official journal of the World Federation of Hemophilia 23 (4) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Yohann Jourdy (Y Jourdy)