Associated Papers
Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form.
Hellum M et al.
Thrombosis Research, 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
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.
Pastoret C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 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
Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.
Pavlova A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014