Associated Papers
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Ferrari S et al.
International Journal of Laboratory Hematology, 2026
Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia.
Sakamoto A et al.
British Journal of Haematology, 2025
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26-related thrombocytopenia.
Pang C et al.
Platelets, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
Vyas H et al.
Platelets, 2022
ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.
Sullivan MJ et al.
Current Hematologic Malignancy Reports, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
Wahlster L et al.
The Journal of Experimental Medicine, 2021
Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.
Balduini A et al.
European Journal of Medical Genetics, 2018
Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected.
Ferrari S et al.
Platelets, 2017
A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall?
Averina M et al.
Thrombosis Research, 2017
Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.
Boutroux H et al.
European Journal of Pediatrics, 2015
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
Bluteau D et al.
The Journal of Clinical Investigation, 2014