509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Poster III

SEPTIN6 mutations in pediatric myelodysplastic syndrome disrupt nuclear actin organization

Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults

Bone marrow alterations and clonal hematopoiesis in germline ETV6 mutation carriers without hematologic malignancy

The international diamond blackfan anemia syndrome cancer consortium Preliminary results

Phenotypic landscape and clinical outcomes associated with promotor TERT mutations in patients with telomere biology disorders

Toward risk adjusted hematologic surveillance for telomere biology disorders

Characterization of the germline and somatic mutation profile of diamond blackfan anemia

Results from the first clinical trial of the selective GlyT1 inhibitor bitopertin for steroid refractory Diamond Blackfan Anemia NCT05828108

A unified nanopore based approach for direct telomere sequencing and genetic diagnosis in inherited bone marrow failure syndromes

SLF2 and SMC5 are novel causative genes for inherited bone marrow failure syndromes driving HSC aging and predisposing to MDS