Research graph
References from Real-world investigation of germ line predisposition to myelodysplastic syndromes. Local targets link to admitted publications; unresolved targets remain external evidence.
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
10.1182/blood-2016-03-643544 · 2016 · External reference
The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms
10.1038/s41375-022-01613-1 · 2022 · External reference
International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data
10.1182/blood.2022015850 · 2022 · External reference
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages
10.1182/blood.2022015790 · 2022 · External reference
Germline variants drive myelodysplastic syndrome in young adults
10.1038/s41375-021-01137-0 · 2021 · External reference
Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML
10.1182/blood.2021011354 · 2022 · External reference
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity
10.1182/blood.2022019304 · 2023 · External reference
Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes
10.1002/hem3.112 · 2024 · External reference
Nordic guidelines for germline predisposition to myeloid neoplasms in adults: recommendations for genetic diagnosis, clinical management and follow-up
10.1097/hs9.0000000000000321 · 2019 · External reference
NCCN Guidelines® insights: myelodysplastic syndromes, version 3.2022: featured updates to the NCCN guidelines
10.6004/jnccn.2022.0009 · 2022 · External reference
Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN
10.1182/blood.2022016867 · 2022 · External reference
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar , NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and Cellular Therapy (BSBMTCT)
10.1111/bjh.18682 · 2023 · External reference
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations
10.1016/j.annonc.2022.12.003 · 2023 · External reference
Frequency and functional characterization of RUNX1 germline variants in myeloid neoplasms
10.1155/2023/4738660 · 2023 · External reference
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML
10.1182/blood.2019003357 · 2020 · External reference
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms
10.3324/haematol.2023.282867 · 2023 · External reference
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing
10.1182/bloodadvances.2023011389 · 2023 · External reference
Validation of guidelines for genetic investigation of myeloid neoplasms with germline predisposition: results from a prospective cohort study
10.1158/1078-0432.ccr-24-4251 · 2025 · External reference
Implementation of and systems-level barriers to guideline-driven germline genetic evaluation in the care of patients with myelodysplastic syndrome and acute myeloid leukemia
10.1200/po.23.00518 · 2024 · External reference
Low rate of germline investigation for variants of suspected germline origin detected during the diagnostic work-up of myeloid neoplasms
10.1002/jha2.70206 · 2025 · External reference
Molecular International Prognostic Scoring System for myelodysplastic syndromes
10.1056/evidoa2200008 · 2022 · External reference
Integrated genomic and transcriptomic analysis improves disease classification and risk stratification of MDS with ring sideroblasts
10.1158/1078-0432.ccr-23-0538 · 2023 · External reference
Early transfusion patterns improve the Molecular International Prognostic Scoring System (IPSS-M) prediction in myelodysplastic syndromes
10.1111/joim.13790 · 2024 · External reference
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms
10.1182/blood.2021015135 · 2022 · External reference
The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression
10.1002/gcc.23184 · 2023 · External reference
Structural and functional analysis of DDX41: a bispecific immune receptor for DNA and cyclic dinucleotide
10.1038/srep34756 · 2016 · External reference
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
2023 · External reference
Germline UBA1 variant with somatic amplification in a woman with inflammatory diseases and myelodysplastic syndrome
10.7326/l24-0125 · 2025 · External reference
Molecular taxonomy of myelodysplastic syndromes and its clinical implications
10.1182/blood.2023023727 · 2024 · External reference
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies
10.1182/bloodadvances.2017013037 · 2018 · External reference
Sequential tumor molecular profiling identifies likely germline variants
10.1016/j.gim.2023.101037 · 2024 · External reference
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations
10.1182/blood.2024025023 · 2024 · External reference
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
10.1182/bloodadvances.2019000901 · 2020 · External reference
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
10.1182/blood-2012-08-452763 · 2013 · External reference
Beyond myeloid neoplasms germline guidelines: validation of the thresholds criteria in the search of germline predisposition variants
10.1002/jha2.1012 · 2024 · External reference
Evaluation of reference sample type for somatic variant calling in myeloid cancers
10.1007/s00277-025-06699-y · 2025 · External reference
