Associated Papers
NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy.
Weinstock NI et al.
Pediatric Blood & Cancer, 2025
Interface-guided phenotyping of coding variants in the transcription factor RUNX1.
Ozturk K et al.
Cell Reports, 2024
Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.
Ozturk K et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
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