Associated Papers
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Homan CC et al.
Haematologica, 2021
34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
Mutations of RUNX1 in families with inherited thrombocytopenia.
De Rocco D et al.
American Journal of Hematology, 2017
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