Associated Papers
Interface-guided phenotyping of coding variants in the transcription factor RUNX1.
Ozturk K et al.
Cell Reports, 2024
38968069 (PubMed )
Supplement: NIHMS2011877-supplement-3.xlsx › Sheet1
Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.
Ozturk K et al.
Biorxiv : the Preprint Server for Biology, 2023
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
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu D et al.
Haematologica, 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X et al.
Blood Advances, 2019
Gene of the issue: RUNX1 mutations and inherited bleeding.
Morgan NV et al.
Platelets, 2017
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
Latger-Cannard V et al.
Orphanet Journal of Rare Diseases, 2016
Recognizing familial myeloid leukemia in adults.
Nickels EM et al.
Therapeutic Advances in Hematology, 2013
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
Churpek JE et al.
Leukemia & Lymphoma, 2010
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