Associated Papers
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
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida JM et al.
Seminars in Thrombosis and Hemostasis, 2019
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
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM et al.
Haematologica, 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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