Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.
Corral J et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?
Orlando C et al.
Thrombosis and Haemostasis, 2025
How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant.
Bravo-Pérez C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.
Kruijt M et al.
Mass Spectrometry Reviews, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Identification of two point mutations associated with inherited antithrombin deficiency.
Lai SW et al.
Thrombosis Journal, 2024
Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis.
Li X et al.
Hamostaseologie, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Weronska A et al.
Haematologica, 2023
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J et al.
Thrombosis and Haemostasis, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
Bravo-Pérez C et al.
American Journal of Hematology, 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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.
Gindele R et al.
Biomolecules, 2021
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Orlando C et al.
Thrombosis and Haemostasis, 2021
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH.
Van Cott EM et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
How I treat patients with hereditary antithrombin deficiency.
Pabinger I et al.
Blood, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Management of antithrombin deficiency: an update for clinicians.
Bravo-Pérez C et al.
Expert Review of Hematology, 2019
SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population.
Kjaergaard AD et al.
Thrombosis Research, 2019
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele R et al.
Thrombosis Research, 2017
SERPINC1 gene mutations in antithrombin deficiency.
Mulder R et al.
British Journal of Haematology, 2017
Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature.
Refaei M et al.
Case Reports in Hematology, 2017
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
Gindele R et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia.
Orlando C et al.
Thrombosis Research, 2015
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Yu F et al.
Plos One, 2015
Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.
Feddersen S et al.
Clinical Biochemistry, 2014
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Puurunen M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.
Maruyama K et al.
Thrombosis Research, 2013
Use of recombinant human antithrombin concentrate in pregnancy.
Kreuziger LM et al.
International Journal of Women's Health, 2013