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
Recent advances in inherited platelet disorders.
Pluthero FG et al.
Current Opinion in Hematology, 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
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