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Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium.
Nakano TA, Lau BW, Dickerson KE, Wlodarski M, Pollard J, Shimamura A, Hofmann I, Sasa G, Elghetany T, Cada M, Dror Y, Ding H, Allen SW, Hanna R, Campbell K, Olson TS. Nakano TA, et al. Among authors: hofmann i. Pediatr Blood Cancer. 2020 Oct;67(10):e28652. doi: 10.1002/pbc.28652. Epub 2020 Aug 11. Pediatr Blood Cancer. 2020. PMID: 32779892
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Zhang MY, et al. Among authors: hofmann i. Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19. Haematologica. 2015. PMID: 25239263 Free PMC article.
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL, Myers KC, Bowman J, Gibson CJ, Camarda ND, Furutani E, Muscato GM, Klein RH, Ballotti K, Liu S, Harris CE, Galvin A, Malsch M, Dale D, Gansner JM, Nakano TA, Bertuch A, Vlachos A, Lipton JM, Castillo P, Connelly J, Churpek J, Edwards JR, Hijiya N, Ho RH, Hofmann I, Huang JN, Keel S, Lamble A, Lau BW, Norkin M, Stieglitz E, Stock W, Walkovich K, Boettcher S, Brendel C, Fleming MD, Davies SM, Weller EA, Bahl C, Carter SL, Shimamura A, Lindsley RC. Kennedy AL, et al. Among authors: hofmann i. Nat Commun. 2021 Feb 26;12(1):1334. doi: 10.1038/s41467-021-21588-4. Nat Commun. 2021. PMID: 33637765 Free PMC article.
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Renella R, et al. Among authors: hofmann i. Am J Hematol. 2022 Jan 1;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 3. Am J Hematol. 2022. PMID: 34677878 Free PMC article.
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.
Hofmann I, Avagyan S, Stetson A, Guo D, Al-Sayegh H, London WB, Lehmann L. Hofmann I, et al. Biol Blood Marrow Transplant. 2020 Jun;26(6):1124-1130. doi: 10.1016/j.bbmt.2020.02.015. Epub 2020 Feb 20. Biol Blood Marrow Transplant. 2020. PMID: 32088370 Free PMC article.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: hofmann i. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.
Joyce CE, Saadatpour A, Ruiz-Gutierrez M, Bolukbasi OV, Jiang L, Thomas DD, Young S, Hofmann I, Sieff CA, Myers KC, Whangbo J, Libermann TA, Nusbaum C, Yuan GC, Shimamura A, Novina CD. Joyce CE, et al. Among authors: hofmann i. J Clin Invest. 2019 Jun 18;129(9):3821-3826. doi: 10.1172/JCI125375. J Clin Invest. 2019. PMID: 31211692 Free PMC article.
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Zhang MY, et al. Among authors: hofmann i. Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581430 Free PMC article.
205 results