Associated Papers
GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
Venhuizen J et al.
Communications Biology, 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
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Faleschini M 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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
van Oorschot R et al.
Haematologica, 2019
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Nurden AT et al.
American Journal of Hematology, 2016
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