Publications (Recent Representative Papers)

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Laboratory Research (Selected publications)
  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
  2. 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
  3. 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]
  4. 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.
  5. 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
  6. 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
  7. 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
  8. 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.
  9. 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. 2018 Jan 25;131(4):408-416. PMID: 29092827.
  10. Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW.  Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.  Haematologica. 2018 Mar;103(3):427-437.  PMID: 29217778
  11. Whitaker, JR, Zhao, RG, Sanchez-Bonilla, M, Moore, HD, Schoenherr, RM, Yan, P, Lin, C, Shimamura, A, and Paulovich, AG. Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.  DNA Repair (Amst). 2018 65:47-53.  PMID 29605812
  12. Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King M-C. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246.  PMID: 29712865
  13. Seo, A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC.  Inherited thrombocytopenia associated with mutation of UDP-Galactose-4-Epimerase (GALE).  Hum Mol Genet. 2018 Sep 20. doi: 10.1093/hmg/ddy334. [Epub ahead of print] PMID: 30247636
  14. Ruiz-Gutierrez M, Vargel Bölükbaşi Ö, Alexe G, Kotini AG, Ballotti K, Joyce CE, Russell DW, Stegmaier K, Myers K, Novina CD, Papapetrou EP, Shimamura A. Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.  JCI Insight.  2019 Par 30; 5, pii: 125157. doi: 10.1172/jci.insight.125157.  PMID: PMID:31039138.


Clinical Research
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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.
  10. Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor AB, Fleming MD, Shimamura A. Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Pediatr Dev Pathol. 2019 Jan 2:1093526618822108. doi: 10.1177/1093526618822108. [Epub ahead of print] PMID: 30600763
  11. Rogers ZR, Nakano TA, Olson TS, Bertuch AA, Wang W, Gillio A, Coates TD, Chawla A, Castillo P, Kurre P, Gamper C, Bennett CM, Joshi S, Geddis AE, Boklan J, Nalepa G, Rothman JA, Huang JN, Kupfer GM, Cada M, Glader B, Walkovich KJ, Thompson AA, Hanna R, Vlachos A, Malsch M, Weller EA, Williams DA, Shimamura A.  Immunosuppressive therapy for pediatric aplastic anemia: A North American Peditaric Aplastic Anemia Consortium Study.  Haematologica. 2019.  Apr 4. pii: haematol.2018.206540. doi: 10.3324/haematol.2018.206540. [Epub ahead of print]  PMID: 30948484


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
5.         Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A. Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.  Am J Hematol. 2018 Sep;93(9):1194-1195. PMID: 29885000

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
  2. 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
  3. Ruggero, D, and Shimamura, A.  Marrow Failure: A Window into Ribosome Biology. Blood. 2014. 124(18):2784-2792. PMID: 25237201
  4. 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
  5. Shimamura, A.  Aplastic anemia and clonal evolution: germline and somatic genetics.  Hematology Am Soc Hematol Educ Program. 2016(1): 74-82. PMID: 27913465.
  6. Furutani, E. and Shimamura, A. Germline Genetic Predisposition to Hematologic Malignancy. J. Clin Oncol. 2017 Mar 20;35(9):1018-1028. PMID: 28297620.
  7. Hock, H. and Shimamura, A. ETV6 in hematopoiesis and leukemia predisposition. 2017.  Semin Hematol. Apr;54(2):98-104. PMID: 28637624
  8. Godley, L.A. and Shimamura, A. Genetic predisposition to hematologic malignancies: Management and surveillance.  Jul 27;130(4):424-432.   PMID: 28600339
  9. Furutani, E, Newburger, PE, Shimamura, A. Neutropenia in the age of genetic testing: Advances and challenges.  Am J Hematol. 2018 Dec 8. doi: 10.1002/ajh.25374. [Epub ahead of print] PMID: 30536760
  10. Kennedy, AL. and Shimamura, A. Genetic predisposition to MDS: clinical features and clonal evolution.  Blood. 2019 Mar7; 133(10):1071-1085. PMID: 30670445


 
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