Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.

Blood - 30 Mar 2023

Homan Claire C, Scott Hamish S, Brown Anna L

Abstract excerpt

Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity and clinical impact. Although phenotypically there is much overlap, known genetic causes are many, prompting the curation of multigene panels for clinical use, which are being deployed in increasingly large-scale populations to uncover missing heritability more efficiently. For some of these disorders, in particular RUNX1,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Myeloid Leukemia Research
Share to Blood Platelet Disorders
Share to Core Binding Factor Alpha 2 Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Germ Cells

Share to Germ-Line Mutation

Share to Hematologic Neoplasms

Share to Intercellular Signaling Peptides and Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 36626254
DOI: 10.1182/blood.2022017735
PMCID: PMC10651873

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.PMID 36626254Read ↗

ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.Semantic proximity Read ↗

Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.Semantic proximity Read ↗

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasiaSemantic proximity Read ↗

[Clinical management of familial platelet disorder with associated myeloid malignancies: at the crossroads of hematology and clinical genetics].Semantic proximity Read ↗

Inherited platelet disorders: toward DNA-based diagnosisSemantic proximity Read ↗

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.Semantic proximity Read ↗

Clonal hematopoiesis in individuals with <i>ANKRD26</i> or <i>ETV6</i> germline mutationsSemantic proximity Read ↗

Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical ImplicationsSemantic proximity Read ↗

Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Semantic proximity Read ↗

Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.Semantic proximity Read ↗

Hereditary thrombocytopenias: a growing list of disordersSemantic proximity Read ↗

Germline ETV6 mutations and predisposition to hematological malignancies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.