Publications
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.
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 J, Kupfer GM, Cada M, Glader B, Walkovich KJ, Thompson AA, Hanna R, Vlachos A, Malsch M, Weller E, Williams D, Shimamura A
Issue: 133 Volume: 10 Page: 1071-1085
Genetic predisposition to MDS: clinical features and clonal evolution
Shimamura A, Kennedy A
Page: 1093526618822108
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.
Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor A, Fleming MD, Shimamura A
Issue: 1 Volume: 28 Page: 133-142
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
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
Neutropenia in the age of genetic testing: Advances and challenges
Shimamura A, Furutani E, Newburger P
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1
Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu N, Tamary H, King M
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.
Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A
Volume: 65 Page: 47-53
Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.
Whiteaker JR, Zhao L, Ivey RG, Sanchez-Bonilla M, Moore HD, Schoenherr RM, Yan P, Lin C, Shimamura A, Paulovich AG
Issue: 3 Volume: 103 Page: 427-437
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
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
Issue: 4 Volume: 131 Page: 408-416
Somatic mutations and clonal hematopoiesis in congenital neutropenia.
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
Issue: 23 Volume: 377 Page: 2290-2292
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.
Dale DC, Bolyard A, Marrero T, Makaryan V, Bonilla M, Link DC, Newburger P, Shimamura A, Boxer LA, Spiekerman C
Issue: 14 Volume: 130 Page: 1671-1674
Pregnancy outcomes in inherited bone marrow failure syndromes.
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
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
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
Issue: 10 Volume: 23 Page: 1669-1677
Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.
Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE
Issue: 7 Volume: 130 Page: 875-880
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
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 M, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A
Issue: 4 Volume: 130 Page: 424-432
Genetic predisposition to hematologic malignancies: management and surveillance.
Godley LA, Shimamura A
Issue: 3 Volume: 31 Page: 93-99
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
Mamrak NE, Shimamura A, Howlett NG
ETV6 in hematopoiesis and leukemia predisposition
Hock H, Shimamura A
Volume: 55 Page: 23-32
The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma.
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
Issue: 9 Volume: 35 Page: 1018-1028
Germline Genetic Predisposition to Hematologic Malignancy
Furutani E, Shimamura A
Issue: 1 Volume: 49
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
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
Issue: 1 Volume: 2016 Page: 74-82
Aplastic anemia and clonal evolution: germ line and somatic genetics.
Shimamura A
Issue: 11 Volume: 101 Page: 1343-1350
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A
Issue: 7 Volume: 38 Page: e260-2
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
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
Issue: 6 Volume: 45 Page: 858-62
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.
Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A
Issue: 6 Volume: 98 Page: 1146-58
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
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
Issue: 8 Volume: 127 Page: 1017-23
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber 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 JE, Scott HS
Issue: 11 Volume: 62 Page: 2047-9
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.
Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.
Seo A, Walsh T, Lee M, Ho P, Hsu EK, Sidbury R, King MC, Shimamura A
Issue: 7 Volume: 62 Page: 1228-31
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.
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, Myers K
Issue: 2 Volume: 47 Page: 180-5
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 D, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A
Issue: 1 Volume: 100 Page: 42-8
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 D, Fleming MD, Abkowitz JL, King MC, Shimamura A
Issue: 12 Volume: 229 Page: 1881-3
Spindle microtubule dysfunction and cancer predisposition.
Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M
Issue: 12 Volume: 20 Page: 1996-2003
Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial.
Burroughs LM, Nemecek ER, Torgerson TR, Storer BE, Talano JA, 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
Issue: 18 Volume: 124 Page: 2784-92
Marrow failure: a window into ribosome biology.
Ruggero D, Shimamura A
Issue: 5 Volume: 61 Page: 869-74
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC).
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, Shimamura A
Issue: 4 Volume: 164 Page: 866-70
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A
Issue: 1 Volume: 132 Page: 223-6
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita.
Allenspach EJ, Bellodi C, Jeong D, Kopmar N, Nakamura T, Ochs HD, Ruggero D, Skoda-Smith S, Shimamura A, Torgerson TR
Issue: 1 Volume: 27 Page: 117-28, ix
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Myers KC, Davies SM, Shimamura A
Issue: 5 Volume: 59 Page: 945-6
Breast cancer in a case of Shwachman Diamond syndrome.
Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM
Issue: 7 Volume: 155A Page: 1673-9
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.
Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA