Associated Papers
Rare onset of congenital thrombotic thrombocytopenic purpura during pregnancy: A novel ADAMTS13 gene variant.
González-Resina R et al.
Transfusion, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain.
De Waele L et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.
Zguro K et al.
Viruses, 2022
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
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
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
Joly BS et al.
Thrombosis and Haemostasis, 2018
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.
Pagliari MT et al.
Plos One, 2016
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.
de Vries PS et al.
Blood, 2015
The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.
De Cock E et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Nephrotic syndrome associated with primary atypical hemolytic uremic syndrome.
Bello-Marquez DC et al.
Jornal Brasileiro De Nefrologia, 0