Associated Papers
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Popp NA et al.
Nature Structural & Molecular Biology, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.
Schmidt DE et al.
Thrombosis and Haemostasis, 2024
Comprehensive analysis of genotypes and phenotypes in 23 Chinese patients with hemophilia B: Identification of five novel variants.
Lu L et al.
International Journal of Laboratory Hematology, 2023
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 2022
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.
Branchini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA et al.
Molecular Genetics & Genomic Medicine, 2020
EHL-FIX in haemophilia B carriers with FIX deficiency.
Marlière C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B.
Kihlberg K et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
A genetic analysis of 23 Chinese patients with hemophilia B.
Wang QY et al.
Scientific Reports, 2016
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Radic CP et al.
Thrombosis and Haemostasis, 2013
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012