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Comprehensive Bone Marrow Failure Center Publications

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Below is a list of selected publications from the Comprehensive Bone Marrow Failure Center:

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant
Br J Haematol · October, 2022
Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights
J Clin Endocrinol Metab · September, 2022
Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood
Clin Genet · September, 2022
Genetics of inherited thrombocytopenias
Blood · June, 2022
Metformin for treatment of cytopenias in children and young adults with Fanconi anemia
Blood Adv · June, 2022
Severe aplastic anaemia after serial vaccinations for SARS-CoV-2, pneumococcus and seasonal influenza
EJHaem · May, 2022
Heterozygous variants of CLPB are a cause of severe congenital neutropenia
Blood · February, 2022
Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria
Front Immunol · January, 2022
Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation
https://pubmed.ncbi.nlm.nih.gov/34625796/ · January, 2022
Eltrombopag: a springboard to early responses in SAA
Blood · January, 2022
The impact of clonal diversity and mosaicism on haematopoietic function in Fanconi anaemia
Br J Haematol · January, 2022
When does a PNH clone have clinical significance?
Hematology Am Soc Hematol Educ Program · December, 2021
Impaired myelopoiesis in congenital neutropenia: insights into clonal and malignant hematopoiesis
Hematology Am Soc Hematol Educ Program · December, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
Hum Mutat · November, 2021
Rational biomarker development for the early and minimally invasive monitoring of AML
Blood Adv · November, 2021
The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis
Blood Adv · August, 2021
Hematopoietic stem and progenitor cell signaling in the niche
Leukemia · December, 2020
Clonal hematopoiesis and risk for hematologic malignancy
Blood · October, 2020
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities
JCI Insight · October, 2020
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
J Clin Immunol · August, 2020