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Journal Articles

Lymphoid Malignancies in Shwachman-Diamond Syndrome: Incidence, Clinical Features, and Outcomes from the North American SDS Registry

Helen D Reed, Hyunwoo Do, Edie Weller, Jason E Farrar, Christopher Gamper, Bonnie W Lau, Lauren Pommert, Ian Atkinson, Margret Joos, Sara Loveless, Sarah Steltz, Kasiani Myers, Akiko Shimamura

Blood (2023) 142 (Supplement 1): 5662.

https://doi.org/10.1182/blood-2023-174256

Published: 2023

Journal Articles

Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE : Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia

Margret Joos, Akiko Shimamura, Timothy H. Chang, Peter E. Newburger

Blood (2023) 142 (Supplement 1): 5661.

https://doi.org/10.1182/blood-2023-190110

Published: 2023

Journal Articles

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Blood (2023) 141 (23): 2853–2866.

https://doi.org/10.1182/blood.2022019425

Published: 2023

Includes: Supplemental data

Journal Articles

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

Christopher R. Reilly, Akiko Shimamura

Blood (2023) 141 (13): 1513–1523.

https://doi.org/10.1182/blood.2022017739

Published: 2023

Journal Articles

Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

Blood (2022) 140 (21): 2228–2247.

https://doi.org/10.1182/blood.2022015853

Published: 2022

Includes: Supplemental data

Journal Articles

Targeting a Putative Intronic Splicing Silencer Salvages Expression from the Recurrent SBDS C.258+2T>C Mutant Allele in Shwachman-Diamond Syndrome Patient Cells and Mouse Model

Blood (2022) 140 (Supplement 1): 2944–2945.

https://doi.org/10.1182/blood-2022-169379

Published: 2022

Journal Articles

Eltrombopag in Pediatric Patients with Previously Untreated or Refractory/Relapsed Severe Aplastic Anemia: The Phase II Escalate Trial

Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Jason E Farrar, Sujith Samarasinghe, Brigitte Strahm, Winfred C. Wang, Adrianna Vlachos, Charlotte M. Niemeyer, Timothy S. Olson, Denise D'Alessio, Elise Burmeister Getz, Tomasz Lawniczek, Yunnan Xu, David A. Williams

Blood (2022) 140 (Supplement 1): 705–707.

https://doi.org/10.1182/blood-2022-158214

Published: 2022

Journal Articles

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Masanori Yoshida, Felicia Andresen, Hermann Yang, Sara Lewis, Miriam Erlacher, Dirk Lebrecht, Akiko Shimamura, Charlotte M. Niemeyer, Sushree S Sahoo, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 5816–5817.

https://doi.org/10.1182/blood-2022-166742

Published: 2022

Journal Articles

Regulated Expression of GATA1 As a Gene Therapy Cure for Diamond-Blackfan Anemia

Richard A Voit, Xiaotian Liao, Blake Cohen, Myriam Armant, Elena Kamal, Mei-Mei Huang, William Clarke, David A. Williams, Akiko Shimamura, Vijay G. Sankaran

Blood (2022) 140 (Supplement 1): 986–987.

https://doi.org/10.1182/blood-2022-165848

Published: 2022

Journal Articles

Outcomes of Hematologic Complications in Shwachman Diamond Syndrome: High Risk Features and Implications for Surveillance

Ashley Galvin, Chris R. Reilly, Maggie Malsch, Sara Loveless, Joseph H. Antin, Stella M Davies, Courtney D. DiNardo, Adam Lane, Coleman Lindsley, Taizo A. Nakano, Richard Cooper, Katherine Coyne, Claire Dusa, Margret Joos, Mark D. Fleming, Kasiani C. Myers, Akiko Shimamura

Blood (2022) 140 (Supplement 1): 2949–2950.

https://doi.org/10.1182/blood-2022-164969

Published: 2022

Journal Articles

A New Genetic Immunodeficiency Syndrome Caused By Autosomal Dominant Mutations in LCP1 Identified By Mosaic Tetraploidy and Severe Neutropenia in Unrelated Pedigrees

Thijs van Bergen, Anna Aalbers, Dennis Bosch, Onno Roovers, Akiko Shimamura, Marc H.G.P. Raaijmakers, Peter E. Newburger, Ivo P Touw

Blood (2022) 140 (Supplement 1): 5463–5464.

https://doi.org/10.1182/blood-2022-165112

Published: 2022

Journal Articles

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

Daniel A. Arber, Attilio Orazi, Robert P. Hasserjian, Michael J. Borowitz, Katherine R. Calvo, Hans-Michael Kvasnicka, Sa A. Wang, Adam Bagg, Tiziano Barbui, Susan Branford, Carlos E. Bueso-Ramos, Jorge E. Cortes, Paola Dal Cin, Courtney D. DiNardo, Hervé Dombret, Eric J. Duncavage, Benjamin L. Ebert, Elihu H. Estey, Fabio Facchetti, Kathryn Foucar, Naseema Gangat, Umberto Gianelli, Lucy A. Godley, Nicola Gökbuget, Jason Gotlib, Eva Hellström-Lindberg, Gabriela S. Hobbs, Ronald Hoffman, Elias J. Jabbour, Jean-Jacques Kiladjian, Richard A. Larson, Michelle M. Le Beau, Mignon L.-C. Loh, Bob Löwenberg, Elizabeth Macintyre, Luca Malcovati, Charles G. Mullighan, Charlotte Niemeyer, Olatoyosi M. Odenike, Seishi Ogawa, Alberto Orfao, Elli Papaemmanuil, Francesco Passamonti, Kimmo Porkka, Ching-Hon Pui, Jerald P. Radich, Andreas Reiter, Maria Rozman, Martina Rudelius, Michael R. Savona, Charles A. Schiffer, Annette Schmitt-Graeff, Akiko Shimamura, Jorge Sierra, Wendy A. Stock, Richard M. Stone, Martin S. Tallman, Jürgen Thiele, Hwei-Fang Tien, Alexandar Tzankov, Alessandro M. Vannucchi, Paresh Vyas, Andrew H. Wei, Olga K. Weinberg, Agnieszka Wierzbowska, Mario Cazzola, Hartmut Döhner, Ayalew Tefferi

Blood (2022) 140 (11): 1200–1228.

https://doi.org/10.1182/blood.2022015850

Published: 2022

Includes: Supplemental data

Journal Articles

Telomere biology disorders: ends and (genetic) means

Akiko Shimamura

Blood (2022) 139 (12): 1776–1777.

https://doi.org/10.1182/blood.2021014855

Published: 2022

Journal Articles

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

Blood (2022) 139 (5): 690–703.

https://doi.org/10.1182/blood.2021011775

Published: 2022

Includes: Supplemental data

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Metformin for Treatment of Cytopenias in Children and Young Adults with Fanconi Anemia

Blood (2021) 138 (Supplement 1): 1102.

https://doi.org/10.1182/blood-2021-153598

Published: 2021

Journal Articles

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Alyssa L. Kennedy, MDPhD, Kasiani C. Myers, MD, James Bowman, PhD, Christopher J. Gibson, MD, Gwen M. Muscato, Robert Klein, Kaitlyn Ballotti, Nicholas Camarda, Elissa M. Furutani, MD, Chad E. Harris, MS, Shanshan Liu, PhD, Ashley Galvin, Maggie Malsch, MSN, RN, David C. Dale, MD, John M Gansner, MD PhD, Taizo A. Nakano, MD, Alison A. Bertuch, MD, Adrianna Vlachos, MD, Jeff H. Lipton, MD PhD, Paul Castillo, MD, James Connelly, John Edwards, MD, Nobuko Hijiya, MD, Richard Ho, MD, Inga Hofmann, MD, James N Huang, MD, Sioban B. Keel, MD, Adam J. Lamble, MD, Bonnie W Lau, MD PhD, Kelly J. Walkovich, MD, Maxim Norkin, MD, Wendy Stock, MD, Steffen Boettcher, Christian Brendel, PhD, Elliot Stieglitz, MD, Mark D. Fleming, MD DPhil, Stella M. Davies, PhD MBBS, MRCP, Edie A. Weller, Chris Bahl, PhD, Scott L. Carter, PhD, Akiko Shimamura, MD PhD, R. Coleman Lindsley, MD PhD

Blood (2020) 136 (Supplement 1): 35–36.

https://doi.org/10.1182/blood-2020-137125

Published: 2020

Journal Articles

Towards Identifying the Target of Autoimmunity in Aplastic Anemia

Benjamin F Frost, BSc, Jamie Duke, PhD, Hongbo Xie, PhD, Deborah Ferriola, BSc, Joseph H Oved, MD MA, Peter Nicholas, BA, Jian-Meng Fan, BS, Ryan Hausler, MS, Alison A. Bertuch, MD PhD, Elissa M. Furutani, MD, Akiko Shimamura, MD PhD, Stephanie J. Lee, MDMPH, Stephen R. Spellman, MS, Dimitri S. Monos, PhD, Timothy S. Olson, MD PhD, Daria V. Babushok, MD PhD

Blood (2020) 136 (Supplement 1): 2.

https://doi.org/10.1182/blood-2020-136772

Published: 2020

Journal Articles

Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia

Shuquan Rao, PhD, Josias Brito-Frazao, Anna V. Serbin, Qiuming Yao, PhD, Kevin Luk, Yuxuan Wu, PhD, Jing Zeng, MD, Chunyan Ren, PhD, Ruth Watkinson, Myriam Armant, PhD, Luca Pinello, PhD, Akiko Shimamura, MD PhD, Benhur Lee, Scot A. Wolfe, PhD, Peter E. Newburger, MD, Daniel E. Bauer, MD PhD

Blood (2019) 134 (Supplement_1): 3.

https://doi.org/10.1182/blood-2019-131073

Published: 2019

Journal Articles

Genetic predisposition to MDS: clinical features and clonal evolution

Alyssa L. Kennedy, Akiko Shimamura

Blood (2019) 133 (10): 1071–1085.

https://doi.org/10.1182/blood-2018-10-844662

Published: 2019

NARROW

Lymphoid Malignancies in Shwachman-Diamond Syndrome: Incidence, Clinical Features, and Outcomes from the North American SDS Registry

Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE : Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

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

Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

Targeting a Putative Intronic Splicing Silencer Salvages Expression from the Recurrent SBDS C.258+2T>C Mutant Allele in Shwachman-Diamond Syndrome Patient Cells and Mouse Model

Eltrombopag in Pediatric Patients with Previously Untreated or Refractory/Relapsed Severe Aplastic Anemia: The Phase II Escalate Trial

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Regulated Expression of GATA1 As a Gene Therapy Cure for Diamond-Blackfan Anemia

Outcomes of Hematologic Complications in Shwachman Diamond Syndrome: High Risk Features and Implications for Surveillance

A New Genetic Immunodeficiency Syndrome Caused By Autosomal Dominant Mutations in LCP1 Identified By Mosaic Tetraploidy and Severe Neutropenia in Unrelated Pedigrees

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

Telomere biology disorders: ends and (genetic) means

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

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Metformin for Treatment of Cytopenias in Children and Young Adults with Fanconi Anemia

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Towards Identifying the Target of Autoimmunity in Aplastic Anemia

Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia

Genetic predisposition to MDS: clinical features and clonal evolution

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