Associated Papers
FLI1 and GATA1 govern TLN1 transcription: new insights into FLI1-related platelet disorders.
Gabinaud E et al.
Haematologica, 2025
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Zerella JR et al.
Frontiers in Oncology, 2023
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.
Lacey J et al.
Haematologica, 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
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P et al.
Haematologica, 2017
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B et al.
Haematologica, 2016
Molecular basis of inherited thrombocytopenias: an update.
Savoia A
Current Opinion in Hematology, 2016
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.
Favier R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2015
What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?
Daly ME et al.
British Journal of Haematology, 2014
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Stockley J et al.
Blood, 2013
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