Publications (Last 10 Years)

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Original Research (last 5 years)

  1. Kazenwadel, J, Secker, GA, Liu, YJ, Rosenfeld, JA, Wildin, RS, Cuellar-Rodriguez, J, Hsu, AP, Dyack, S, Fernandez, CV, Chong, C-E, Babic, M, Bardy, PG, Shimamura, A, Zhang, M,, Walsh, T, Holland, SM, Hickstein, DD, Horwitz, MS, Hahn, CN, Scott, HS, and Harvey, NL. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012. 119(5):1283-91. PMID: 22147895
  2. Burwick, N, Coats, SA, Nakamura, T, and Shimamura, A.  Impaired Ribosomal Subunit Association in Shwachman Diamond Syndrome.  Blood 2012. 120(26):5143-52. PMID: 23115272
  3. Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. Pluripotent Stem Cell Models of Shwachman Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction. Cell Stem Cell. 2013. 12(6): 727-736.  PMID: 23602541
  4. Bellodi C, McMahon M, Contreras A, Juliano D, Kopmar N, Nakamura T, Maltby D, Burlingame A, Savage SA, Shimamura A, Ruggero D. H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation. Cell Rep. 2013. 3(5):1493-502. PMID: 237070.
  5. Williams, D, Bennett,, C, Bertuch, A, Bessler, M, Coates, T, Corey, S, Dror, Y, Huang, J,  Lipton, J, Olson, TS, Reiss, UM, Rogers, ZR, Sieff, C, Vlachos, A, Walkovich, K, Wang, W, and Shimamura, A, on behalf of the North American Pediatric Aplastic Anemia Consortium.  Diagnosis and Treatment of Pediatric Acquired Aplastic Anemia (AAA): an Initial Survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014. 61(5):869-74. PMID: 24285674

  1. Myers, KC, Bolyard, AA, Otto, B, Jones, A, Wong, TE, Harris, RE, Davies, SM, Dale, DC, Shimamura, A. Variable clinical presentation of Shwachman Diamond Syndrome: Update from the North American Shwachman Diamond Syndrome Registry.  J Pediatr. 2014. 164(4):866-70.  PMID: 24388329

  1. Burroughs, LM, Nemecek, ER, Torgerson TR, Storer, BE, Talano J, Domm J, Giller RH, Shimamura A, Delaney C, Skoda-Smith S, Thakar MS, Baker KS, Rawlings DJ, Englund JA, Flowers ME, Deeg HJ, Storb R. Woolfrey AE.  Treosulfan-Based Conditioning and Hematopoietic Cell Transplantation for Nonmalignant Diseases. Biol Blood Marrow Transplant. 2014. 20(12):1996-2003. PMID: 25196857

  1. 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. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.  Haematologica. 2015. 100(1):42-8. PMID: 25239263

  1. Makaryan, V, Zeidler, C, Bolyard, AA, Skokowa, J, Rodger, E, Kelley, ML, Boxer, LA, Bonilla, A, Newburger, PE, Shimamura, A, Zhu, B, Rosenberg, PS, Link, DC , Welte, K, Dale DC, for the Severe Chronic Neutropenia International Registry (SCNIR). The Diversity of Mutations and Clinical Outcomes for ELANE-associated Neutropenia. Curr Opin Hematol. 2015 Jan;22(1):3-11. PMID:25427142

  1. Zhang, MY, Churpek, JE, Walsh, T, Lee, MK, Keel, SB, Loeb, KR, Gulsuner, S, Pritchard, CC,  Forouhar, M, Gyurkocza, B, Schwartz, BS, Neistadt, B, Marquez, R, Mariani, C, Coats, S, Hofmann, I, Lindsley, RC, Williams, DA, Abkowitz, JL, Horwitz, MS, Godley, LA, King, MC, and Shimamura, A. Germline ETV6 Mutations in Familial Thrombocytopenia and Hematologic Malignancy. Nature Genetics. 2015. 47(2): 180-185. PMID: 25581430

  1. Ryan, TD, Jefferies, JL, Chin, C, Sticka, JJ, Taylor, MD, Harris, R, Moore, J, Goodridge, E, Mount, L, Bolyard, AA, Otto, B, Jones, A, Shimamura, A, Davies, S, and Myers, K.  Abnormal Circumferential Strain Measured by Echocardiography is Present in Patients with Shwachman Diamond Syndrome Despite Normal Shortening Fraction.  Pediatric Blood and Cancer.  2015. Jul;62(7):1228-31. PMID: 25732529

  1. Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K.  Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 2015. Jun 23; 11(6) e1005262. Doi 10.1371/journal.pgen.1005262. PMID 26102509.

  1. 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, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood 2015. Dec 17; 126(25):2734-2738. PMID: 26491070

  1. Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schrieber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D’Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JN, Scott HS. Novel Germline DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 2016. Feb 25;127(8):1017-23 PMID: 26712909

  1. Seo, A, Walsh, T, Lee, M, Ho, P, Hsu, E, Sidbury, R, King, MC, Shimamura, A.  FAM111B mutation is associated with inherited exocrine pancreatic dysfunction. Pancreas 2016.  Jul; 45(6):858-62. [PMID: 26495788]

  1. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL.  Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Sci Transl Med. 2016. May 11;8(338):338ra67.  PMID: 27169803

  1. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Diamond-Blackfan Anemia: A Nonclassical Patient with Diangosis Assisted by Genomic Analysis. J. Pedatri Hematol Oncol. 2016 2016 Oct;38(7):e260-2.  PMID: 27258031

  1. Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-58. Doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050.

  1. Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP, King MC, Walsh T, Shimamura A, Keel SB, Churpek JE, Godley LA. Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. Biol Blood Marrow Transplant. 2016 Nov;22(11):2100-2103. PMID: 27497531

  1. Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016 Nov;101(11):1343-1350. PMID: 27418648

  1. Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA. Pulmonary arteriovenous malformations: an uncharacterized phenotype of dyskeratosis ongenital and related telomere biology disorders. Eur Respir J. 2017 Jan 25;49(1). PMID: 27824607

  1. Burwick, N, Zhang MY, de la Puente P, Azab AK, Hyun TS, Ruiz-Gutierrez M, Sanchez-Bonilla M, Nakamura T, Delrow JJ, MacKay VL, Shimamura A. The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma. Leuk Res. 2017 Apr; 55:23-32. PMID: 28119225

  1. Burroughs LM, Shimamura A, Talano JA, Domm J, Baker K, Delaney C, Frangoul H, Margolis D, Baker KS, Geddis A, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE. Allogeneic hematopoietic cell transplantation using treosulfan-based conditioning for treatment of marrow failure disorders. Biol Blood Marrow Transplant. 2017. 23(10):1669-1677. PMID: 28602958

  1. Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO. Blood 2017. 30(7):875-880. PMID: 28559357

  1. Gansner JM, Achebe MM, Gray KJ, Yefidoff-Freedman R, Labovitis E, Parnes A, Connors JM, Connell NT, Discenza MN, Handin RI, Berliner N, Shimamura A, Ginsburg ES, Smith NA. Pregnancy outcomes in inherited bone marrow failure syndromes.  Blood. 2017.  130(14):1671-1674. PMID: 28798157

  1. Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.   Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.  J Clin Invest. 2017 Nov 1;127(11):4090-4103.  PMID: 28972538.

  1. Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC. Somatic mutations and clonal hematopoiesis in congenital neutropenia.  Blood. 2017 Nov 1. Pii: blood-2017-08-801985. Doi: 10.1182/blood-2017-08-801985. [Epub ahead of print] PMID: 29092827.

  1. Dale, DC, Bolyard AA, Marrero, T, Makaryan, V, Bonilla, MA, Link, DC, Newburger, P, Shimamura, A, Boxer, L., Spiekerman C.  Long-term outcomes for patients with cyclic neutropenia treated with granulocyte colony-stimulating factor.  New Engl J Med.  2017 377(23): 2290-2292. PMID: 29211670.


Case reports

1.         Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.  Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Am J Med Genet A. 2011 Jul;155A(7):1673-9. PMID: 21626672

2.         Singh, S, Vlachos, A, Morgenstern, NJ, Ouansafi, I, Ip, W, Rommens, J, Durie, P, Shimamura, A, Lipton, JM. Breast cancer in a case of Shwachman Diamond syndrome.  Pediatr Blood Cancer. 2012 Nov;59(5):945-6. PMID: 22213587

3.         Allenspach EJ, Bellodi C, Jeong D, Kopmar N, Nakamura T, Ochs HD, Ruggero D, Skoda-Smith S, Shimamura A, Torgerson TR. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. J Allergy Clin Immunol. 2013. 132(1):223-6. PMID: 23403051

4.         Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A. Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.  Pediatr. Blood Cancer. 2015. 62(11): 2047-2049. PMID 26011426

Reviews
       
  1. Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013.  27(1):117-28. PMID: 23351992

  1. Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M. Spindle microtubule dysfunction and cancer predisposition. J Cell Physiol. 2014. 229(12):1881-3. PMID: 24905602

  1. Ruggero, D, and Shimamura, A.  Marrow Failure: A Window into Ribosome Biology. Blood. 2014. 124(18):2784-2792. PMID: 25237201

  1. Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev. 2017 31(3):93-99.. PMID: 27760710.

  1. Shimamura, A.  Aplastic anemia and clonal evolution: germline and somatic genetics.  Hematology Am Soc Hematol Educ Program. 2016(1): 74-82. PMID: 27913465.

  1. Furutani, E. and Shimamura, A. Germline Genetic Predisposition to Hematologic Malignancy. J. Clin Oncol. 2017 Mar 20;35(9):1018-1028. PMID: 28297620.

  1. Hock, H. and Shimamura, A. ETV6 in hematopoiesis and leukemia predisposition. 2017.  Semin Hematol. Apr;54(2):98-104. PMID: 28637624

  1. Godley, L.A. and Shimamura, A. Genetic predisposition to hematologic malignancies: Management and surveillance.  Jul 27;130(4):424-432.   PMID: 28600339

 
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