Akiko Shimamura

Akiko Shimamura

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Akiko Shimamura

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Genetic predisposition to MDS: diagnosis and management.

Hematology Am Soc Hematol Educ Program 2019 Dec;2019(1):110-119

Dana-Farber and Boston Children's Cancer and Blood Disorders Center, Boston, MA.

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http://dx.doi.org/10.1182/hematology.2019000021DOI Listing
December 2019

Neutropenia in the age of genetic testing: Advances and challenges.

Am J Hematol 2019 Mar 8;94(3):384-393. Epub 2019 Jan 8.

Dana Farber and Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajh.25374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380907PMC
March 2019

Genetic predisposition to MDS: clinical features and clonal evolution.

Blood 2019 03 22;133(10):1071-1085. Epub 2019 Jan 22.

Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-10
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http://dx.doi.org/10.1182/blood-2018-10-844662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405331PMC
March 2019

Bone Marrow Morphology Associated With Germline Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.

Pediatr Dev Pathol 2019 Jul-Aug;22(4):315-328. Epub 2019 Jan 2.

9 Division of Hematology Oncology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1177/1093526618822108DOI Listing
January 2019

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.

Am J Hematol 2018 09 6;93(9):1194-1195. Epub 2018 Sep 6.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajh.25155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168377PMC
September 2018

Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.

DNA Repair (Amst) 2018 05 21;65:47-53. Epub 2018 Mar 21.

Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.dnarep.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911425PMC
May 2018

It's ALL in the Family: IKZF1 and Hereditary Leukemia.

Cancer Cell 2018 05;33(5):798-800

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2018.04.008DOI Listing
May 2018

Alteration of molecular assembly of peroxiredoxins from hyperthermophilic archaea.

J Biochem 2017 Dec;162(6):415-422

National Institute of Advanced Industrial Science and Technology, Ikeda, Osaka 563-8577, Japan.

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http://dx.doi.org/10.1093/jb/mvx045DOI Listing
December 2017

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

Biol Blood Marrow Transplant 2017 Oct 7;23(10):1669-1677. Epub 2017 Jun 7.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington; Department of Medicine, University of Washington School of Medicine, Seattle, Washington; Hematology-Oncology, Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1016/j.bbmt.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605451PMC
October 2017

Genetic predisposition to hematologic malignancies: management and surveillance.

Blood 2017 07 9;130(4):424-432. Epub 2017 Jun 9.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1182/blood-2017-02-735290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533201PMC
July 2017

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Blood Rev 2017 05 13;31(3):93-99. Epub 2016 Oct 13.

Department of Cell and Molecular Biology, University of Rhode Island, 120 Flagg Road, Kingston, RI 02881, United States. Electronic address:

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http://dx.doi.org/10.1016/j.blre.2016.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391297PMC
May 2017

The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma.

Leuk Res 2017 04 12;55:23-32. Epub 2017 Jan 12.

Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA, USA; Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, 4800 Sand Point Way, Seattle, WA, USA; Department of Pediatrics, University of Washington, 1959 NE Pacific St., Seattle, WA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01452126173000
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http://dx.doi.org/10.1016/j.leukres.2017.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354961PMC
April 2017

ETV6 in hematopoiesis and leukemia predisposition.

Semin Hematol 2017 04 7;54(2):98-104. Epub 2017 Apr 7.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1053/j.seminhematol.2017.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584538PMC
April 2017

Germline Genetic Predisposition to Hematologic Malignancy.

J Clin Oncol 2017 Mar 13;35(9):1018-1028. Epub 2017 Feb 13.

All authors: Dana-Farber Cancer Center and Boston Children's Cancer and Blood Disorders Center, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2016.70.8644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559882PMC
March 2017

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

Authors:
Akiko Shimamura

Hematology Am Soc Hematol Educ Program 2016 Dec;2016(1):74-82

Dana-Farber and Boston Children's Cancer and Blood Disorders Center, Boston, MA.

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http://dx.doi.org/10.1182/asheducation-2016.1.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578420PMC
December 2016

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.

Biol Blood Marrow Transplant 2016 11 4;22(11):2100-2103. Epub 2016 Aug 4.

Section of Hematology/Oncology, Department of Medicine, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, Illinois; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592729PMC
November 2016

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

J Pediatr Hematol Oncol 2016 10;38(7):e260-2

*Hematology Unit, Schneider Medical Center of Israel †The Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva, Israel Departments of ‡Medicine, Division of Hematology §Medicine, Division of Medical Genetics #Medicine **Genome Sciences §§Pediatrics, University of Washington ††Clinical Research Division, Fred Hutchinson Cancer Research Center ‡‡Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA ∥Pediatric Onco-Hematology, Regina Margherita Children's Hospital ¶Pediatric Hematology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033710PMC
October 2016

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

Pancreas 2016 07;45(6):858-62

From the *Department of Genome Sciences, University of Washington; †Clinical Research Division, Fred Hutchinson Cancer Research Center; ‡Division of Medical Genetics, University of Washington; §Pediatric Hematology/Oncology, Seattle Children's Hospital; ∥Department of Pediatrics, University of Washington; ¶Pediatric Gastroenterology and Hepatology, and #Department of Dermatology, Seattle Children's Hospital, Seattle, WA; and **Boston Children's Hospital, Dana Farber Cancer Institute, and Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1097/MPA.0000000000000529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841754PMC
July 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Am J Hum Genet 2016 06;98(6):1146-1158

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Care Center, Seattle, WA 98108, USA; Division of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908176PMC
June 2016

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Blood 2016 Feb 28;127(8):1017-23. Epub 2015 Dec 28.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA, Australia; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology.

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http://dx.doi.org/10.1182/blood-2015-10-676098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968341PMC
February 2016

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

Pediatr Blood Cancer 2015 Nov 22;62(11):2047-9. Epub 2015 May 22.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.

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http://dx.doi.org/10.1002/pbc.25587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583355PMC
November 2015

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

PLoS Genet 2015 Jun 23;11(6):e1005262. Epub 2015 Jun 23.

Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America; Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, New York, United States of America; Weill Cornell Medical College, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477877PMC
June 2015

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Nat Genet 2015 Feb 12;47(2):180-5. Epub 2015 Jan 12.

1] Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA. [3] Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357PMC
February 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Haematologica 2015 Jan 19;100(1):42-8. Epub 2014 Sep 19.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, WA Department of Pediatrics, University of Washington, Seattle, WA, USA

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http://dx.doi.org/10.3324/haematol.2014.113456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281311PMC
January 2015

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Curr Opin Hematol 2015 Jan;22(1):3-11

aDepartment of Medicine, University of Washington, Seattle, USA bDepartment of Molecular Hematopoiesis, Kinderklinik, MedizinischeHochschule, Hannover cInternal Medicine II, University Hospital, Tübingen, Tübingen, Germany dDepartment of Medicine, University of Washington, Severe Chronic Neutropenia International Registry, Seattle ePediatric Hematology Oncology, University of Michigan, Ann Arbor fPediatric Hematology Oncology, Saint Joseph's Children's Hospital, Paterson gDepartments of Pediatrics and Cancer Biology, University of Massachusetts Medical School, Worcester hPediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center, Seattle iBiostatistics Branch, National Cancer Institute at the National Institutes of Health, Division of Cancer Epidemiology & Genetics, Bethesda jDivision of Oncology, Washington University, St Louis, USA *Vahagn Makaryan and Cornelia Zeidler contributed equally to the writing of this article.

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http://dx.doi.org/10.1097/MOH.0000000000000105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380169PMC
January 2015

Spindle microtubule dysfunction and cancer predisposition.

J Cell Physiol 2014 Dec;229(12):1881-3

Vermont Cancer Center and Department of Molecular Physiology and Biophysics, University of Vermont College of Medicine, Burlington, Vermont.

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http://dx.doi.org/10.1002/jcp.24691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149604PMC
December 2014

Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial.

Biol Blood Marrow Transplant 2014 Dec 6;20(12):1996-2003. Epub 2014 Sep 6.

Fred Hutchinson Cancer Research Center, Seattle, Washington; University of Washington School of Medicine, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1016/j.bbmt.2014.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324724PMC
December 2014

Marrow failure: a window into ribosome biology.

Blood 2014 Oct 18;124(18):2784-92. Epub 2014 Sep 18.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA; Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA; and Department of Pediatrics, University of Washington, Seattle, WA.

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http://dx.doi.org/10.1182/blood-2014-04-526301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215310PMC
October 2014

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

J Pediatr 2014 Apr 31;164(4):866-70. Epub 2013 Dec 31.

Department of Pediatrics, University of Washington, Seattle, WA; Seattle Children's Hospital, Seattle, WA; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077327PMC
April 2014

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.

Cell Stem Cell 2013 Jun 18;12(6):727-36. Epub 2013 Apr 18.

Division of Pediatric Hematology/Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.stem.2013.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755012PMC
June 2013

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

Hematol Oncol Clin North Am 2013 Feb 3;27(1):117-28, ix. Epub 2012 Nov 3.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, MLC 7015, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.hoc.2012.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693339PMC
February 2013

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Blood 2012 Dec 31;120(26):5143-52. Epub 2012 Oct 31.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

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http://dx.doi.org/10.1182/blood-2012-04-420166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537309PMC
December 2012

Breast cancer in a case of Shwachman Diamond syndrome.

Pediatr Blood Cancer 2012 Nov 27;59(5):945-6. Epub 2011 Dec 27.

Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York 11040, USA.

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http://dx.doi.org/10.1002/pbc.24052DOI Listing
November 2012

Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.

Curr Opin Hematol 2011 Jan;18(1):30-5

aThe University of California, San Francisco School of Medicine and UCSF Benioff Children's Hospital, San Francisco, CA, USA bFred Hutchinson Cancer Research Center, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1097/MOH.0b013e32834114a5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485416PMC
January 2011

SBDS protein expression patterns in the bone marrow.

Pediatr Blood Cancer 2010 Sep;55(3):546-9

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

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http://dx.doi.org/10.1002/pbc.22573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913690PMC
September 2010

Pathophysiology and management of inherited bone marrow failure syndromes.

Blood Rev 2010 May 24;24(3):101-22. Epub 2010 Apr 24.

Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, Seattle, WA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0268960X100001
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http://dx.doi.org/10.1016/j.blre.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733544PMC
May 2010

Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage.

Blood 2010 Apr 20;115(17):3453-62. Epub 2010 Jan 20.

Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, MA, USA.

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http://dx.doi.org/10.1182/blood-2009-10-246694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867260PMC
April 2010

Clinical approach to marrow failure.

Authors:
Akiko Shimamura

Hematology Am Soc Hematol Educ Program 2009 :329-37

Fred Hutchinson Cancer Research Center, Children's Hospital, University of Washington, Seattle, WA 98109, USA.

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http://www.asheducationbook.org/cgi/doi/10.1182/asheducation
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http://dx.doi.org/10.1182/asheducation-2009.1.329DOI Listing
March 2010

Congenital disorders of ribosome biogenesis and bone marrow failure.

Biol Blood Marrow Transplant 2010 Jan 19;16(1 Suppl):S12-7. Epub 2009 Sep 19.

Division of Hematology/Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, California 90095-1752 USA.

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http://dx.doi.org/10.1016/j.bbmt.2009.09.012DOI Listing
January 2010

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Hematol Oncol Clin North Am 2009 Apr;23(2):233-48

Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D1-100, PO Box 19024, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1016/j.hoc.2009.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754297PMC
April 2009

Disease-specific induced pluripotent stem cells.

Cell 2008 Sep 7;134(5):877-86. Epub 2008 Aug 7.

Department of Medicine, Division of Pediatric Hematology Oncology, Children's Hospital Boston, and Dana-Farber Cancer Institute, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.cell.2008.07.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633781PMC
September 2008

Diamond-Blackfan anemia: a new facet.

Authors:
Akiko Shimamura

Blood 2008 Sep;112(5):1552-3

Fred Hutchinson Cancer Research Center.

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http://dx.doi.org/10.1182/blood-2008-07-164202DOI Listing
September 2008

Ribosomal dysfunction and inherited marrow failure.

Br J Haematol 2008 May;141(3):376-87

Department of Haematology/Oncology, Children's Hospital/Dana Farber Cancer Institute, Boston, MA, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07095.xDOI Listing
May 2008

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

Blood 2007 Sep 2;110(5):1458-65. Epub 2007 May 2.

Department of Pediatric Hematology, Children's Hospital Boston, Boston, MA, USA.

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http://dx.doi.org/10.1182/blood-2007-02-075184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1975835PMC
September 2007

Inherited bone marrow failure syndromes: molecular features.

Authors:
Akiko Shimamura

Hematology Am Soc Hematol Educ Program 2006 :63-71

Children's Hospital Boston, Karp Research Laboratories, Boston, MA 02115, USA.

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http://dx.doi.org/10.1182/asheducation-2006.1.63DOI Listing
June 2007

Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated.

J Clin Invest 2007 May 12;117(5):1440-9. Epub 2007 Apr 12.

Department of Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.

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http://www.jci.org/cgi/doi/10.1172/JCI31245
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http://dx.doi.org/10.1172/JCI31245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847538PMC
May 2007

Shwachman-Diamond syndrome.

Authors:
Akiko Shimamura

Semin Hematol 2006 Jul;43(3):178-88

Department of Hematology, Children's Hospital Boston, Karp Research Laboratories, Boston, MA 02115, USA.

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http://dx.doi.org/10.1053/j.seminhematol.2006.04.006DOI Listing
July 2006

The Shwachman-Diamond SBDS protein localizes to the nucleolus.

Blood 2005 Aug 28;106(4):1253-8. Epub 2005 Apr 28.

Department of Pediatric Hematology/Oncology, Children's Hospital Boston, MA, USA.

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http://dx.doi.org/10.1182/blood-2005-02-0807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895203PMC
August 2005

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway.

Blood 2005 Feb 21;105(3):1329-36. Epub 2004 Sep 21.

Genome Rearrangements and Cancer Laboratory, U462 INSERM, Laboratoire Central d'Hématologie and Institut Universitaire d'Hématologie, Hopital Saint-Louis, 1 Ave Claude Vellefaux, 75010 Paris, France.

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http://dx.doi.org/10.1182/blood-2004-05-1852DOI Listing
February 2005

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

Blood 2004 Apr 11;103(7):2554-9. Epub 2003 Dec 11.

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, USA.

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http://dx.doi.org/10.1182/blood-2003-06-1970DOI Listing
April 2004

Marrow failure.

Hematology Am Soc Hematol Educ Program 2002 :58-72

Dana-Farber Cancer Institute, Department of Pediatrics Oncology, Boston, MA 02115, USA.

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http://dx.doi.org/10.1182/asheducation-2002.1.58DOI Listing
August 2003

A novel diagnostic screen for defects in the Fanconi anemia pathway.

Blood 2002 Dec 29;100(13):4649-54. Epub 2002 Aug 29.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

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http://dx.doi.org/10.1182/blood-2002-05-1399DOI Listing
December 2002