A. Shimamura

T. Walsh, M. King, R. Larson, 2016, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Germline Genetic Predisposition to Hematologic Malignancy.

A. Shimamura, Elissa Furutani, 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The Shwachman-Diamond SBDS protein localizes to the nucleolus.

R. Leary, A. Shimamura, K. Austin, 2005, Blood.

Loss of Matrix Adhesion Triggers Rapid Transformation-Selective Apoptosis in Fibroblasts

D. Fisher, R. Bates, A. Shimamura, 1997, The Journal of cell biology.

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Ankoor S. Shah, T. Libermann, A. Geddis, 2020, American journal of medical genetics. Part A.

Characterization of the repressed 5S DNA minichromosomes assembled in vitro with a high-speed supernatant of Xenopus laevis oocytes

A. Shimamura, D. Tremethick, A. Worcel, 1988, Molecular and cellular biology.

Autophagy in mesenchymal progenitors protects mice against bone marrow failure after severe intermittent stress

D. Strunk, H. Leonhardt, K. Götze, 2021, Blood.

Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.

Johnson M Liu, A. Shimamura, N. Burwick, 2011, Seminars in hematology.

Non-DBA Disorders of Ribosome Function: Shwachman-Diamond Syndrome and 5q- Syndrome

Johnson M Liu, A. Shimamura, N. Burwick, 2011 .

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

M. Norkin, M. Oberley, M. Fleming, 2019, The Lancet. Haematology.

Small cell sweat gland carcinoma in childhood.

A. Perez-Atayde, A. Shimamura, K. Busam, 1998, The American journal of surgical pathology.

Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations.

J. Tchinda, S. Holland, C. Mecucci, 2021, Blood.

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

Anna L. Brown, T. Walsh, M. King, 2016, Blood.

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study

David A. Williams, T. Olson, A. Bertuch, 2019, Haematologica.

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): An initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)

S. Corey, T. Olson, A. Bertuch, 2014, Pediatric blood & cancer.

Diagnostic work‐up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium

T. Olson, M. Wlodarski, A. Bertuch, 2021, American journal of hematology.

Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome

J. Rommens, T. Kuijpers, Johnson M Liu, 2011, Annals of the New York Academy of Sciences.

Expression of the Shwachman-Bodian-Diamond syndrome (SBDS) protein in human pancreatic cancer and chronic pancreatitis.

H. Friess, H. Kayed, J. Kleeff, 2008, Histology and histopathology.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Szymon J. Ciesielski, Meghan C Towne, P. Newburger, 2015, Blood.

Congenital disorders of ribosome biogenesis and bone marrow failure.

K. Sakamoto, A. Shimamura, S. Davies, 2010, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Diamond-Blackfan anemia: a new facet.

A. Shimamura, 2008, Blood.

Assembly and properties of chromatin containing histone H1.

A. Shimamura, A. Worcel, A. Rodríguez-Campos, 1989, Journal of molecular biology.

SBDS protein expression patterns in the bone marrow

M. Fleming, M. Harris, A. Shimamura, 2010, Pediatric blood & cancer.

Translational research for bone marrow failure patients.

A. Wilkinson, A. Shimamura, S. Loughran, 2021, Experimental hematology.

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

David A. Williams, T. Walsh, M. King, 2015, Haematologica.

The assembly of regularly spaced nucleosomes in the Xenopus oocyte S-150 extract is accompanied by deacetylation of histone H4.

A. Shimamura, A. Worcel, 1989, The Journal of biological chemistry.

Histone H1 represses transcription from minichromosomes assembled in vitro

A. Shimamura, M. Sapp, A. Worcel, 1989, Molecular and cellular biology.

Telomere biology disorders: ends and (genetic) means.

A. Shimamura, 2022, Blood.

Genetic predisposition to MDS: diagnosis and management.

A. Shimamura, Elissa Furutani, 2019, Hematology. American Society of Hematology. Education Program.

Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy

M. Fleming, A. Cantor, A. Geddis, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia

M. Rudelius, C. Niemeyer, A. Shimamura, 2022, Virchows Archiv.

International Consensus Classification of Myeloid Neoplasms and Acute Leukemia: Integrating Morphological, Clinical, and Genomic Data.

M. Loh, E. Estey, M. Cazzola, 2022, Blood.

Breast cancer in a case of Shwachman Diamond syndrome

J. Rommens, A. Shimamura, J. Lipton, 2012, Pediatric blood & cancer.

Metformin for treatment of cytopenias in children and young adults with Fanconi anemia

Annette S. Kim, T. Libermann, L. Cohen, 2021, Blood advances.

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

T. Walsh, M. King, H. Tamary, 2016, Journal of pediatric hematology/oncology.

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

T. Torgerson, R. Storb, B. Storer, 2014, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Subtyping of Fanconi anemia patients: implications for clinical management.

A. D’Andrea, A. Shimamura, 2003, Blood.

Resource Disease-Specific Induced Pluripotent Stem Cells

Chad A. Cowan, G. Daley, K. Hochedlinger, 2022 .

TGFb signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome

C. Nusbaum, T. Libermann, Guocheng Yuan, 2019 .

Fanconi anemia: a multi-age cancer susceptibility syndrome

A. Shimamura, N. Howlett, J. Harney, 2008 .

Marrow failure.

E. Guinan, A. D’Andrea, A. Shimamura, 2002, Hematology. American Society of Hematology. Education Program.

H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.

A. Burlingame, S. Savage, C. Bellodi, 2013, Cell reports.

Pathophysiology and management of inherited bone marrow failure syndromes.

B. Alter, A. Shimamura, 2010, Blood reviews.

Neutropenia in the age of genetic testing: Advances and challenges

P. Newburger, A. Shimamura, Elissa Furutani, 2018, American journal of hematology.

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

P. Rosenberg, P. Newburger, D. Link, 2015, Current opinion in hematology.

An induced pluripotent stem cell model of Fanconi anemia reveals mechanisms of p53-driven progenitor cell differentiation.

G. Daley, B. Ebert, T. Schlaeger, 2020, Blood advances.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

M. Boerries, H. Busch, L. Nilsson, 2017, Haematologica.

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

Deborah Nickerson, Jennifer E Below, Akiko Shimamura, 2016, American journal of human genetics.

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

A. Shimamura, K. Myers, S. Davies, 2013, Hematology/oncology clinics of North America.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Nicholas D. Camarda, S. Carter, M. Norkin, 2021, Nature Communications.

TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.

C. Nusbaum, T. Libermann, Guocheng Yuan, 2019, The Journal of clinical investigation.

Genetic predisposition to MDS: clinical features and clonal evolution.

A. Shimamura, A. Kennedy, 2019, Blood.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

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

A. Shimamura, K. Myers, S. Davies, 2014, The Journal of pediatrics.

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

A. Shimamura, N. Burwick, S. Coats, 2012, Blood.

Clinical spectrum and molecular pathophysiology of Shwachman–Diamond syndrome

James N. Huang, A. Shimamura, 2011, Current opinion in hematology.

Corrigendum to Pathophysiology and management of inherited bone marrow failure syndromes

B. Alter, A. Shimamura, 2010 .

Clinical approach to marrow failure.

A. Shimamura, 2009, Hematology. American Society of Hematology. Education Program.

Ribosomal dysfunction and inherited marrow failure

A. Shimamura, Karthik A. Ganapathi, 2008, British journal of haematology.

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.

Akiko Shimamura, David Pellman, G. Daley, 2008, The Journal of clinical investigation.

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

Akiko Shimamura, R. Reed, A. Shimamura, 2007, Blood.

Shwachman-Diamond syndrome.

A. Shimamura, 2006, Seminars in hematology.

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

S. Karlsson, S. Sheth, T. Leblanc, 2008, British journal of haematology.

Fanconi anemia‐like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

M. Grompe, K. Leppig, M. Parisi, 2011, American journal of medical genetics. Part A.

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Michael N. Edmonson, J. Downing, C. Pui, 2015, PLoS genetics.

On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology

Carlos F. Ng, D. Ingber, Cailin E. Joyce, 2020, Nature Biomedical Engineering.

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

R. Storb, B. Sandmaier, A. Geddis, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

David A. Williams, T. Walsh, M. King, 2015, Nature Genetics.

ETV6 in hematopoiesis and leukemia predisposition.

A. Shimamura, H. Hock, 2017, Seminars in hematology.

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

Akiko Shimamura, A. D’Andrea, A. Shimamura, 2007, The Journal of clinical investigation.

Inherited Bone Marrow Failure Syndromes: Molecular Features

N. Young, A. Shimamura, J. Marsh, 2006 .

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

A. Shimamura, N. Howlett, Nicholas E Mamrak, 2017, Blood reviews.

Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities

D. Monos, T. Olson, A. Bertuch, 2022, JCI insight.

Inherited thrombocytopenia associated with mutation of UDP‐galactose‐4‐epimerase (GALE)

T. Walsh, M. King, S. Pierce, 2018, Human molecular genetics.

Rsk1 mediates a MEK–MAP kinase cell survival signal

J. Blenis, S. Richards, A. Shimamura, 2000, Current Biology.

Distinct mathematical behavior of apoptotic versus non-apoptotic tumor cell death.

P. Hahnfeldt, L. Hlatky, D. Fisher, 1999, International journal of radiation oncology, biology, physics.

p53 in life and death.

D. Fisher, A. Shimamura, 1996, Clinical cancer research : an official journal of the American Association for Cancer Research.

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.

J. Rosenfeld, T. Walsh, S. Holland, 2012, Blood.

Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

David A. Williams, B. Ebert, T. Springer, 2021, American journal of hematology.

Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies

A. Shimamura, S. Avagyan, 2022, Frontiers in Oncology.

Hematologic complications with age in Shwachman-Diamond syndrome

Sarah K. Steltz, A. Bertuch, A. Geddis, 2021, Blood advances.

Author Correction: On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology

Carlos F. Ng, D. Ingber, Cailin E. Joyce, 2020, Nature Biomedical Engineering.

Alteration of molecular assembly of peroxiredoxins from hyperthermophilic archaea.

A. Shimamura, Tsutomu Nakamura, K. Uegaki, 2017, Journal of biochemistry.

Workshop: Translational Research in Ribosome-Based Diseases

K. Sakamoto, A. Shimamura, J. Lipton, 2008 .

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

T. Walsh, M. King, J. Abkowitz, 2016, Haematologica.

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

J. Delrow, V. Mackay, A. Azab, 2017, Leukemia research.

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.

P. Newburger, S. Wolfe, D. E. Bauer, 2021, Cell stem cell.

Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry.

Nicholas J. Dobbins, A. Shimamura, K. Myers, 2012 .

Pregnancy outcomes in inherited bone marrow failure syndromes.

A. Shimamura, J. Connors, E. Ginsburg, 2017, Blood.

Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy

Philip S Rosenberg, Akiko Shimamura, P. Rosenberg, 2010, British journal of haematology.

Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium

T. Olson, M. Wlodarski, A. Shimamura, 2020, Pediatric blood & cancer.

MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia.

S. Hautaniemi, A. D’Andrea, Kaiyang Zhang, 2020, Cell stem cell.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Abdul Waheed Khan, F. Acquati, A. Shimamura, 2021, Molecular cytogenetics.

Repolarization of HSC attenuates HSCs failure in Shwachman–Diamond syndrome

U. Bissels, A. Bosio, A. Shimamura, 2020, Leukemia.

Inherited aplastic anemia syndromes

B. Alter, A. Shimamura, 2013 .

Clinical Outcomes for Patients with Severe Chronic Neutropenia Due to Mutations in the Gene for Neutrophil Elastase, ELANE

Repository, P. Newburger, K. Welte, 2012 .

Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.

K. Stegmaier, G. Alexe, D. Russell, 2019, JCI insight.

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

T. Walsh, M. King, Ming K. Lee, 2016, Pancreas.

GATA2 in the lymphatic vasculature or MonoMAC syndrome and primary lymphedema reveal a key role for mutations in patients with MDS/AML GATA2 Loss-of-function germline

J. Rosenfeld, S. Holland, G. Secker, 2012 .

Spindle Microtubule Dysfunction and Cancer Predisposition

M. Greenblatt, P. Ghule, J. Stein, 2014, Journal of cellular physiology.

Bringing Patient and Caregivers Voices to the Clinical Trial Chorus: A Report from the BMT CTN Patient and Caregiver Advocacy Task Force.

A. Shimamura, N. Mortier, B. Nuechterlein, 2022, Transplantation and cellular therapy.

Oncogene-dependent Regulation of Caspase Activation by p53 Protein in a Cell-free System*

H. Ding, D. Fisher, S. Rowan, 1998, The Journal of Biological Chemistry.

On-chip recapitulation of clinical bone-marrow toxicities and patient-specific pathophysiology

Carlos F. Ng, D. Ingber, Cailin E. Joyce, 2019, Nature Biomedical Engineering.

Human bone marrow disorders recapitulated in vitro using organ chip technology

Carlos F. Ng, D. Ingber, Cailin E. Joyce, 2018, bioRxiv.

Assessment of SBDS Expression Patterns in Human Marrow Hematopoietic and Stromal Cells by Immunohistochemistry and Its Use as a Diagnostic Screen for Schwachman-Diamond Syndrome

M. Fleming, M. Harris, A. Shimamura, 2008 .

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia

T. Torgerson, S. Skoda-Smith, A. Shimamura, 2015, Pediatric blood & cancer.

Respiratory Syncytial Virus as a Cause Of Fever and Petechiae in Infants

S. Coffin, A. Shimamura, K. Gest, 1993, Clinical pediatrics.

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

W. Chung, J. Seidman, Yufeng Shen, 2020, JAMA cardiology.

Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.

P. Newburger, D. Link, A. Shimamura, 2017, The New England journal of medicine.

[29] Assembly of chromatin with oocyte extracts

A. Shimamura, A. Worcel, B. Jessee, 1989 .

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

J. Casanova, H. Kayserili, J. Bernstein, 2021, medRxiv.

Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman–Diamond syndrome despite normal shortening fraction

A. Shimamura, K. Myers, S. Davies, 2015, Pediatric Blood & Cancer.

Outcomes of Pregnancies for Women with Severe Chronic Neutropenia with or without G-CSF Treatment.

P. Rosenberg, P. Newburger, D. Link, 2010 .

The Risk of Low Bone Mineral Density with Long-Term G-CSF Therapy for Severe Chronic Neutropenia.

P. Rosenberg, P. Newburger, D. Link, 2010 .

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.

T. Walsh, M. King, U. Pannicke, 2017, Blood.

Preclinical correction of human Fanconi anemia complementation group A bone marrow cells using a safety-modified lentiviral vector

J. Wagner, A. Shimamura, H. Kiem, 2010, Gene Therapy.

Genomic Profiling for Clinical Decision Making in Myeloid Neoplasms and Acute Leukemia.

Anna L. Brown, Annette S. Kim, M. Loh, 2022, Blood.

Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM‐associated syndromes

A. Bertuch, A. Shimamura, V. Sankaran, 2023, American journal of medical genetics. Part A.

Hematopoietic Stem Cell Defects in Mice with Deficiency of Fancd2 or Usp1

J. Kutok, K. Akashi, A. D’Andrea, 2010, Stem cells.

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: Biological insights and clinical advances.

A. Shimamura, C. Reilly, 2022, Blood.

Impact of cytoreduction and remission status on hematopoietic cell transplantation outcomes in pediatric myelodysplastic syndrome and related disorders.

D. Neuberg, A. Shimamura, Jiemin Yang, 2023, Pediatric blood & cancer.

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

S. Harrison, A. Shimamura, A. Biffi, 2021, HGG advances.

The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia.

J. Soulier, O. Kilpivaara, T. Vulliamy, 2023, Blood.

Coronavirus disease 2019 and vaccination in patients with Shwachman‐Diamond syndrome

A. Shimamura, K. Myers, M. Malsch, 2022, Pediatric Blood & Cancer.

Classification of rare pediatric myeloid neoplasia—Quo vadis?

M. Rudelius, C. Niemeyer, A. Shimamura, 2022, Leukemia.

The Shwachman-Diamond SBDS protein localizes to the nucleolus.

R. Leary, A. Shimamura, K. Austin, 2005, Blood.

RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia

B. Ebert, T. Schlaeger, D. E. Bauer, 2023, Leukemia.

The Times, They Are A-Changing: The Impact of Next-Generation Sequencing on Diagnosis, Classification, and Prognostication of Myeloid Malignancies With Focus on Myelodysplastic Syndrome, AML, and Germline Predisposition.

A. Shimamura, S. Gurbuxani, A. DeZern, 2023, American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting.

Inherited bone marrow failure syndromes: molecular features.

A. Shimamura, 2006, Hematology. American Society of Hematology. Education Program.

Marrow failure: a window into ribosome biology.

D. Ruggero, A. Shimamura, 2014, Blood.

Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.

P. Newburger, D. Link, A. Shimamura, 2017, The New England journal of medicine.

Pregnancy outcomes in inherited bone marrow failure syndromes.

A. Shimamura, J. Connors, E. Ginsburg, 2017, Blood.

Shwachman - Diamond Syndrome: A Review of the Clinical

A. Shimamura, L. Burroughs, 2009 .

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

David A. Williams, T. Walsh, M. King, 2015, Haematologica.

Stable Long-Term Risk of Leukemia in Patients with Severe Congenital Neutropenia Maintained On G-CSF Therapy.

P. Rosenberg, P. Newburger, D. Link, 2009 .

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

A. Shimamura, N. Burwick, Tomoka Nakamura, 2012, Blood.