ReviewHaematologica2020
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for
Review in Haematologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder.Blood advances · 2026Article
- Update of germ line RUNX1 variant curation rules: version 3.1.Blood advances · 2026Article
- A scalable approach to resolving variants of uncertain significance.bioRxiv : the preprint server for biology · 2026Article
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.Blood cancer journal · 2025Article
- Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.Biomolecules · 2025Article
- Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes.American journal of human genetics · 2024Article
- Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.American journal of medical genetics. Part A · 2023Article
- Specifications of the ACMG/AMP Variant Classification Guidelines for GermlineHuman mutation · 2023Article
- Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.Blood · 2022Article
- Revision of RUNX1 variant curation rules.Blood advances · 2022Article
- Review
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- Expanding the genetic spectrum of TUBB1-related thrombocytopenia.Blood advances · 2021Article
- GATA2 deficiency syndrome: A decade of discovery.Human mutation · 2021Article
- The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition.Current hematologic malignancy reports · 2021Review
- Advances in germline predisposition to acute leukaemias and myeloid neoplasms.Nature reviews. Cancer · 2021Review
- Accurate germline RUNX1 variant interpretation and its clinical significance.Blood advances · 2020Article
- Identifying potential germline variants from sequencing hematopoietic malignancies.Hematology. American Society of Hematology. Education Program · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 1 country.
Funding
Abstract
The broad use of next-generation sequencing and microarray platforms in research and clinical laboratories has led to an increasing appreciation of the role of germline mutations in genes involved in hematopoiesis and lineage differentiation that contribute to myeloid neoplasms. Despite implementation of the American College of Medical Genetics and Genomics and Association for Molecular Pathology 2015 guidelines for sequence variant interpretation, the number of variants deposited in ClinVar, a genomic repository of genotype and phenotype data, and classified as having uncertain significance or being discordantly classified among clinical laboratories remains elevated and contributes to indeterminate or inconsistent patient care. In 2018, the American Society of Hematology and the Clinical Genome Resource co-sponsored the Myeloid Malignancy Variant Curation Expert Panel to develop rules for classifying gene variants associated with germline predisposition to myeloid neoplasia. Herein, we demonstrate application of our rules developed for the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.