Akiko Shimamura

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

58h-index15.1kcitations234works2.92yr avg
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Research Topics

Blood disorders and treatments(99), Immunodeficiency and Autoimmune Disorders(74), Acute Myeloid Leukemia Research(62), Hematopoietic Stem Cell Transplantation(26), Pneumocystis jirovecii pneumonia detection and treatment(23)

Publications233 total

CONCORDANCE OF SOMATIC GENETIC TESTING IN BLOOD VS. BONE MARROW IN SHWACHMAN-DIAMOND SYNDROME
EJC Paediatric Oncology·2025· 1 citedOpen Access
ASSESSMENT OF GENETIC TESTING FOLLOWING CURRENT COMPREHENSIVE CLINICAL DIAGNOSTIC EVALUATION FOR PEDIATRIC SEVERE APLASTIC ANEMIA
EJC Paediatric Oncology·2025Open Access
SUPERIOR SURVIVAL FOLLOWING HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR HIGH-RISK MARROW FEATURES IN PATIENTS WITH SHWACHMAN-DIAMOND SYNDROME
EJC Paediatric Oncology·2025Open Access
Efficient, potent, and specific near-universal base and prime editing for ELANE-mutant severe congenital neutropenia
Blood·2025
Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute
Blood·2025
Low hematologic event-free survival with age in shwachman-diamond syndrome
Blood·2025
Efficient prime editing of human hematopoietic stem cells corrects the recurrent SBDS C.258+2T>C mutation and recovers engraftment potential in shwachman-diamond syndrome
Blood·2025
Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry
Blood·2025Open Access
Germ line <i>LCP1</i> mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis
Blood Advances·2025Open Access
Direct and indirect regulation of fetal globin transcript by RNA-binding protein IGF2BP1
2025· 1 citedOpen Access
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency
Blood Cancer Journal·2025· 7 citedOpen Access
ANKRD26-related thrombocytopenia 2 with a baseline increase in blasts: implications for clinical surveillance
Blood·2025· 2 cited
Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial
Blood Advances·2025· 3 citedOpen Access
Lymphoid malignancies in patients with Shwachman-Diamond syndrome
Blood·2025· 1 cited
Genetic Predisposition to Hematologic Malignancies
Cold Spring Harbor Perspectives in Medicine·2025· 1 citedOpen Access
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
npj Genomic Medicine·2024· 7 citedOpen Access
Expanding the Morphologic Spectrum of ANKRD26-Related Thrombocytopenia-2: A Case Series
Blood·2024· 1 citedOpen Access
Outcomes of Hematopoietic Stem Cell Transplantation for High-Risk Marrow Features without Malignancy in Shwachman-Diamond Syndrome
Blood·2024Open Access
Lymphoid Malignancies in Shwachman-Diamond Syndrome
Blood·2024Open Access
Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring <i>ELANE</i> Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry
Blood·2024· 1 citedOpen Access
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Frequent Co-authors

Sioḃán Keel(7), Kasiani C. Myers(7), Lucy A. Godley(5), Tom Walsh(5), David C. Dale(5), Alan D. D’Andrea(5), Mark D. Fleming(5), George Q. Daley(4), Blanche P. Alter(4), Adrianna Vlachos(4), Inga Hofmann(4), Janis L. Abkowitz(4), Mary‐Claire King(4), Audrey Anna Bolyard(4), Stella M. Davies(4), Karyn M. Austin(4), Robert P. Hasserjian(3), Courtney D. DiNardo(3), Charles G. Mullighan(3), Charlotte M. Niemeyer(3)