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Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Ernst MPT et al.
Hemasphere, 2025
39822584 (PubMed )
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Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39252918 (PubMed )
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Germline variants in patients diagnosed with pediatric soft tissue sarcoma.
Yndestad S et al.
Acta Oncologica (stockholm, Sweden), 2024
Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.
Pommerenke C et al.
Cells, 2024
38391914 (PubMed )
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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 )
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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1
Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.
Nkosi D et al.
Genes, 2022
35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.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
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.
Li Y et al.
The Journal of Clinical Investigation, 2021
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
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X et al.
Blood Advances, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
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Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies.
Yannakou CK et al.
Journal of Clinical Pathology, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
29146900 (PubMed )
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