Associated Papers
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
40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Blood Advances, 2024
38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.
Fager Ferrari M et al.
Platelets, 2018
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
Frequency and Clinicopathologic Features of RUNX1 Mutations in Patients With Acute Myeloid Leukemia Not Otherwise Specified.
You E et al.
American Journal of Clinical Pathology, 2017
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