MENU

Publications

Journal Article: Haematologica Year: 2019

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
Journal Article: Blood Year: 2019
Issue: 133 Volume: 10 Page: 1071-1085

Genetic predisposition to MDS: clinical features and clonal evolution 

Shimamura A, Kennedy A
Journal Article: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Year: 2019
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
Journal Article: Human molecular genetics Year: 2019
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
Year: 2018

Neutropenia in the age of genetic testing: Advances and challenges 

Shimamura A, Furutani E, Newburger P
Journal Article: Proceedings of the National Academy of Sciences of the Unites States of America Year: 2018

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
Journal Article: American journal of hematology Year: 2018

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
Journal Article: DNA repair Year: 2018
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
Journal Article: Haematologica Year: 2018
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
Journal Article: Blood Year: 2018
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
Other: The New England journal of medicine Year: 2017
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
Other: Blood Year: 2017
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
Journal Article: The Journal of clinical investigation Year: 2017

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
Journal Article: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation Year: 2017
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
Journal Article: Blood Year: 2017
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
Journal Article: Blood Year: 2017
Issue: 4 Volume: 130 Page: 424-432

Genetic predisposition to hematologic malignancies: management and surveillance. 

Godley LA, Shimamura A
Journal Article: Blood reviews Year: 2017
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
Journal Article: Seminars in Hematology Year: 2017

ETV6 in hematopoiesis and leukemia predisposition 

Hock H, Shimamura A
Journal Article: Leukemia research Year: 2017
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
Journal Article: Journal of Clinical Oncology Year: 2017
Issue: 9 Volume: 35 Page: 1018-1028

Germline Genetic Predisposition to Hematologic Malignancy 

Furutani E, Shimamura A
Other: The European respiratory journal Year: 2017
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
Journal Article: Hematology. American Society of Hematology. Education Program Year: 2016
Issue: 1 Volume: 2016 Page: 74-82

Aplastic anemia and clonal evolution: germ line and somatic genetics. 

Shimamura A
Journal Article: Haematologica Year: 2016
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
Journal Article: Journal of pediatric hematology/oncology Year: 2016
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
Journal Article: Pancreas Year: 2016
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
Journal Article: American journal of human genetics Year: 2016
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
Journal Article: Blood Year: 2016
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
Journal Article: Pediatric blood & cancer Year: 2015
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
Journal Article: Pancreas Year: 2015

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
Journal Article: Pediatric blood & cancer Year: 2015
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
Journal Article: Nature genetics Year: 2015
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
Journal Article: Haematologica Year: 2015
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
Journal Article: Journal of cellular physiology Year: 2014
Issue: 12 Volume: 229 Page: 1881-3

Spindle microtubule dysfunction and cancer predisposition. 

Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M
Journal Article: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation Year: 2014
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
Journal Article: Blood Year: 2014
Issue: 18 Volume: 124 Page: 2784-92

Marrow failure: a window into ribosome biology. 

Ruggero D, Shimamura A
Journal Article: Pediatric blood & cancer Year: 2014
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
Journal Article: The Journal of pediatrics Year: 2014
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
Letter (to Editor/Journal): The Journal of allergy and clinical immunology Year: 2013
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
Journal Article: Hematology/oncology clinics of North America Year: 2013
Issue: 1 Volume: 27 Page: 117-28, ix

Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 

Myers KC, Davies SM, Shimamura A
Journal Article: Pediatric blood & cancer Year: 2012
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
Journal Article: American journal of medical genetics. Part A Year: 2011
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