Author

Yohann Jourdy

Hospices Civils de Lyon / Universit

Biography

Yohann Jourdy is an associate professor in the laboratory of haematology at Lyon University Hospitals, France. His research interests focus on inherited bleeding disorders and molecular biology of factor VIII and FIX.
Title
Cited by
Year
Reccurrent F8 intronic deletion found in mild hemophilia a causes alu exonization
Y Jourdy, A Janin, M Fretigny, A Lienhart, C Négrier, D Bozon, ...The American Journal of Human Genetics 102 (2), 199-206, 2018201
30
2018
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations
Y Jourdy, C Nougier, O Roualdes, M Fretigny, B Durand, C Negrier, ...Haemophilia 22 (4), 583-589, 202
16
2016
Splicing analysis of 26 F8 nucleotide variations using a minigene assay
Y Jourdy, M Fretigny, C Nougier, C Négrier, D Bozon, C VinciguerraHaemophilia 25 (2), 306-315, 2019201
16
2019
Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously …
E Jousselme, Y Jourdy, L Rugeri, C Négrier, C NougierInternational Journal of Laboratory Hematology 40 (1), 77-83, 2018201
16
2018
Prospective evaluation of automatized PF 4/heparin immunoassays Hemos IL HIT‐ab (PF 4‐H) for the diagnosis of heparin‐induced thrombocytopenia
Y Jourdy, C Nougier, L Rugeri, JC Bordet, F Sobas, C NegrierInternational Journal of Laboratory Hematology 37 (2), 244-252, 202
15
2015
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability
Y Jourdy, N Chatron, ML Carage, M Fretigny, S Meunier, C Zawadzki, ...Journal of Thrombosis and Haemostasis 14 (10), 1988-1993, 2016201
13
2016
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing
N Chatron, C Schluth‐Bolard, M Frétigny, A Labalme, G Vilchez, ...Journal of Thrombosis and Haemostasis 17 (7), 1097-03, 2019201
11
2019
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays
F Lassalle, Y Jourdy, L Jouan, L Swystun, J Gauthier, C Zawadzki, ...Haemophilia 26 (6), 56-63, 2020202
10
2020
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling
Y Jourdy, N Chatron, M Fretigny, ML Carage, H Chambost, ...Haemophilia 23 (4), e316-e323, 2017201
10
2017
Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
Y Jourdy, N Enjolras, S Le Quellec, JC Bordet, C Négrier, C Vinciguerra, ...PLoS One 12 (11), e0188213, 2017201
9
2017
Identification of new F8 deep intronic variations in patients with haemophilia A
Identification of new F deep intronic variations in patients with haemophilia AA Dericquebourg, Y Jourdy, M Fretigny, A Lienhart, S Claeyssens, ...Haemophilia 26 (5), 47-54, 2020202
8
2020
Reversal of rivaroxaban anticoagulant effect by prothrombin complex concentrates: which dose is sufficient to restore normal thrombin generation?
L Giffard-Quillon, H Desmurs-Clavel, C Grange, Y Jourdy, Y DargaudThrombosis Journal 18 (1), 1-5, 2020202
7
2020
Parasitologie et mycologie médicale pratique
C Buffaz, E Hodille, Y Jourdy, C Louvrier, A MarijonDe Boeck, 2014201
5
2014
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
Y Jourdy, M Frétigny, F Lassalle, D Lillicrap, C Négrier, C VinciguerraJournal of Thrombosis and Haemostasis 18 (), 1087-1093, 2020202
5
2020
Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c. 1611C> A mutation
Y Dargaud, Y Jourdy, S Le Quellec, CH Hemker, T Lindhout, E Castoldi, ...British Journal of Haematology 17 (6), 993-996, 2016201
4
2016
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
Y Jourdy, N Chatron, M Fretigny, A Dericquebourg, D Sanlaville, ...Journal of Thrombosis and Haemostasis 20 (10), 2293-2305, 2022202
4
2022
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A
Y Jourdy, C Bardel, M Fretigny, F Diguet, PA Rollat‐Farnier, ML Mathieu, ...Haemophilia 28 (1), 117-124, 2022202
3
2022
Comparison of three assays for measuring factor IX
A Dericquebourg, Y Jourdy, C Nougier, C NegrierHaemophilia 4, 51-51, 01801
2
2018
Single-center determination of reference factor II and factor X activity level values for the monitoring of vitamin K antagonist therapy.
S Désage, E Jousselme, C Négrier, C Nougier, S Le Quellec, Y JourdyInternational Journal of Laboratory Hematology 41 (5), e11-e13, 01901
2
2019
The potential value of thrombin generation assay in the diagnosis of FV inhibitors
S Désage, E Jousselme, S Le Quellec, A Lienhart, C Nougier, Y Dargaud, ...International Journal of Laboratory Hematology 41 (5), e117-e10, 01901
2
2019