Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Inherited platelet disorders: From new variants to new knowledge.
Pluthero FG et al.
British Journal of Haematology, 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
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M et al.
International Journal of Molecular Sciences, 2020
Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.
Yun JW et al.
Haematologica, 2019
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Sevivas T et al.
Platelets, 2018
Diagnosis of inherited bleeding disorders in the genomic era.
Sivapalaratnam S et al.
British Journal of Haematology, 2017
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK et al.
Blood, 2017
Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG-GEFI encoding gene.
Desai A et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation.
Kato H et al.
Blood, 2016
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML et al.
Blood, 2016
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