Associated Papers
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
GFI1B variants associated with thrombocytopenia.
Rabbolini DJ et al.
Platelets, 2017
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Nurden AT et al.
American Journal of Hematology, 2016
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
Eggers S et al.
European Journal of Human Genetics : Ejhg, 2015
25099250 (PubMed )
Supplement: ejhg2014130x4.pdf
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