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Comprehensive Bone Marrow Failure Center Publications
Below is a list of selected publications from the Comprehensive Bone Marrow Failure Center:
Shah YB, et al. Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. Br J Haematol. 2022 Oct; doi: 10.1111/bjh.18491. PMID: 36207145
Tucker EJ, et al. Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights. J Clin Endocrinol Metab. 2022 Sep; dgac528. PMID: 36074910
Maxwell KN, et al. Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood. Clin Genet. 2022 Sep; PMID: 36089892
Warren JT, Di Paola J. Genetics of inherited thrombocytopenias. Blood. 2022 Jun; 139(22):3264-3277. PMID: 35167650
Pollard JA, et al. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. Blood Adv. 2022 Jun; 6(12):3803-3811. PMID: 35500223
Wang X, Laczko D, Caponetti GC, Rabatin S, Babushok DV. Severe aplastic anaemia after serial vaccinations for SARS-CoV-2, pneumococcus and seasonal influenza. EJHaem. 2022 May; 3(3):983-8. PMID: 35941884
Warren JT, et al. Heterozygous variants of CLPB are a cause of severe congenital neutropenia. Blood. 2022 Feb; 139(5):779-791. PMID: 34115842
Colden MA, Kumar S, Munkhbileg B, Babushok DV. Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria. Front Immunol. 2022 Jan; 12:830172. PMID: 35154088
Zha J, Kunselman LK, Xie HM, Ennis B, Shah YB, Qin X, Fan JM, Babushok DV, Olson TS. Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation. https://pubmed.ncbi.nlm.nih.gov/34625796/. 2022 Jan; 6(1):108-120. PMID: 34625796
Babushok DV. Eltrombopag: a springboard to early responses in SAA. Blood. 2022 Jan; 139(1):1-2. PMID: 34989776
Hughes AD, Kurre P. The impact of clonal diversity and mosaicism on haematopoietic function in Fanconi anaemia. Br J Haematol. 2022 Jan; 196(2):274-287. 2021 Jul 13. PMID: 34258754
Warren JT, Link DC. Impaired myelopoiesis in congenital neutropenia: insights into clonal and malignant hematopoiesis. Hematology Am Soc Hematol Educ Program. 2021 Dec; 2021(1):514-520. PMID: 34889405
Babushok DV. When does a PNH clone have clinical significance?. Hematology Am Soc Hematol Educ Program. 2021 Dec; 2021(1):143-152. PMID: 34889408
Abdelhamed S, Butler JT, Jung S, Chen DW, Jenkins G, Gao L, Lim JY, Klco JM, Horton TM, Kurre P. Rational biomarker development for the early and minimally invasive monitoring of AML. Blood Adv. 2021 Nov; 5(21):4515-4520. PMID: 34587228
Heeney MM, et al. 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. 2021 Nov; 42(11):1367-1383. PMID: 34298585
Shah YB, Priore SF, Li Y, Tang CN, Nicholas P, Kurre P, Olson TS, Babushok DV. The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis. Blood Adv. 2021 Aug; 5(16):3216-3226. PMID: 34427585
Hurwitz SN, Jung SK, Kurre P. Hematopoietic stem and progenitor cell signaling in the niche. Leukemia. 2020 Dec; 34(12):3136-3148. PMID: 33077865
Warren JT, Link DC. Clonal hematopoiesis and risk for hematologic malignancy. Blood. 2020 Oct; 136(14):1599-1605. PMID: 32736382
Olson TS, et al. Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities. JCI Insight. 2020 Oct; e163040. PMID: 36219480
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E. Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 2020 Aug; 40(6):901-916. Epub 2020 Jul 7. PMID: 32638196