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
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.
Glembotsky AC et al.
Journal of Blood Medicine, 2021
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG et al.
Platelets, 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
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.
Rensing-Ehl A et al.
Blood, 2015
Congenital platelet disorders and understanding of platelet function.
Nurden AT et al.
British Journal of Haematology, 2014
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M et al.
Nature Genetics, 2011
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