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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

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

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

Large Genomic Deletions in Shwachman-Diamond Syndrome

Lisa J. McReynolds, MD PhD, Kristine Jones, BS, Kedest Teshome, BS, Alyssa Kennedy, MD PhD, Akiko Shimamura, MD PhD, Neelam Giri, MD, Blanche P. Alter, MD MPH, Sharon A. Savage, MD

Blood (2018) 132 (Supplement 1): 2586.

https://doi.org/10.1182/blood-2018-99-118495

Published: 2018

Journal Articles

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Raffaele Renella, MD PhD, Katelyn Gagne, BS, Ellen Beauchamp, BA, Thorsten Schlaeger, PhD, Inga Hofmann, MD, Akiko Shimamura, MD PhD, Jonathan Fogel, BSc, Suneet Agarwal, MDPhD, Benjamin L. Ebert, MDPhD, Kyriacos Markianos, Timothy A. Springer, PhD, Mark D. Fleming, MD DPhil, David A. Williams, MD

Blood (2018) 132 (Supplement 1): 644.

https://doi.org/10.1182/blood-2018-99-114682

Published: 2018

Journal Articles

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Anna L. Brown, PhD BSc, Mark Armstrong, MSc, David Lawrence, Paul Wang, Peer Arts, PhD, Nicolas Duployez, PharmD, PhD, Jane Churpek, MD, Kiran Tawana, MD, Erin Degelman, MSc, BSc, Georges Natsoulis, PhD, Monica L. Guzman, PhD, Mrinal M. Patnaik, MD MBBS, Akiko Shimamura, MD PhD, Alan B. Cantor, MD PhD, Tim Ripperger, MD PhD, Brigitte Schlegelberger, MD PhD, Doris Steinemann, PhD, Courtney D. DiNardo, MD MSc, Cristina Mecucci, MD PhD, Elvira DRP Velloso, MD PhD, Fabio PS Santos, MD, Marcela CA Silva, Uma Borate, MD, Shannon K. McWeeney, PhD, Grzegorz Nalepa, MD PhD, Susanne Ragg, MD PhD, Erika Mijin Kwon, PhD, Anupriya Agarwal, PhD, Stephen Langabeer, PhD, Jeffery M. Klco, MD PhD, Jun J. Yang, PhD, Cecily Forsyth, FRACP, FRCPA, MBBS, Sally Mapp, MD PhD, Helen Mar Fan, MD, Lesley Rawlings, PhD, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Andrew H Wei, MBBS,PhD, Inderjeet Dokal, MD, Tom Vulliamy, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Deepak Singhal, MBBS, MD FRACP, FRCPA, Susan Branford, PhD, Elli Papaemmanuil, PhD, Jean Soulier, MDPhD, Stefan Fröhling, MD, Alwin Kramer, MD, Guy Sauvageau, MD PhD, Neil Morgan, Carolyn Owen, Csaba Bödör, PhD, Jude Fitzgibbon, Hugh Y. Rienhoff, Jr., MD, Mineo Kurokawa, MD PhD, Lucy Godley, MD PhD, Claude Preudhomme, Paul P Liu, MD PhD, Nicola Poplawski, MD, Christopher N. Hahn, PhD, Hamish S. Scott, PhD

Blood (2018) 132 (Supplement 1): 5241.

https://doi.org/10.1182/blood-2018-99-118017

Published: 2018

Journal Articles

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

Kasiani C. Myers, MD, Elissa Muse Furutani, MD, Sara Loveless, BSN, Maggie Malsch, MSN, RN, Ashley Galvin, Ellie Fratt, Jordan Larson, Jacob Cotton, Leah Cheng, Kelly McIntosh, Joan Moore, RN, Leann Mount, RN, Rabi Hanna, MD, Winfred Wang, MD, Alison A. Bertuch, MD PhD, Stella M. Davies, PhD MBBS, MRCP, Akiko Shimamura, MD PhD

Blood (2018) 132 (Supplement 1): 3871.

https://doi.org/10.1182/blood-2018-99-117582

Published: 2018

Journal Articles

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

David C Dale, MD, Audrey Anna Bolyard, RN, BS, Blanche P. Alter, MD MPH, Mary Ann Bonilla, MD, James Connelly, MD, Daniel C. Link, MD, Peter E. Newburger, MD, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Kelly J. Walkovich, MD

Blood (2018) 132 (Supplement 1): 16.

https://doi.org/10.1182/blood-2018-99-112694

Published: 2018

Journal Articles

Placental Growth Factor (PlGF) Enhances TLR/MK2 Dependent TNF Gene Transcription and Dissociates miRNAs Targeting TNF Regulatory Transcripts from the Polysome

Laura F. Newell, MD, Nicholas Burwick, MD, Christina A Harrington, PhD, Kristina Vartanian, Julja Burchard, Shernan G. Holtan, MD, Akiko Shimamura, MD PhD, Grover C. Bagby, MD

Blood (2016) 128 (22): 408.

https://doi.org/10.1182/blood.V128.22.408.408

Published: 2016

Journal Articles

Mutation Burden in Hematopoietic Stem Cells Is Not Increased in Congenital Neutropenia

Jun Xia, Akiko Shimamura, MD PhD, Kasiani C. Myers, MD, Laurence A. Boxer, MD, David C. Dale, MD, Amrita Ramesh, Matthew Jotte, Daniel C. Link, MD

Blood (2016) 128 (22): 405.

https://doi.org/10.1182/blood.V128.22.405.405

Published: 2016

Journal Articles

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Kasiani C. Myers, MD, Adam S. Nelson, MBBS, Brian Sheehan, Maggie Malsch, Gwendolyn Towers, Audrey Anna Bolyard, RN, BS, Joan Moore, Sara Loveless, Leann Mount, Stella M Davies, MBBS, PhD, Siobán B. Keel, MD, Rabi Hanna, MD, Mark D. Fleming, MD DPhil, David C. Dale, MD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 2681.

https://doi.org/10.1182/blood.V128.22.2681.2681

Published: 2016

Journal Articles

Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics

Siobán B. Keel, MD, Tom Walsh, PhD, Colin Pritchard, MD, Akiko Shimamura, MD PhD, Mary-Claire King, PhD, David Wu, MD PhD

Blood (2016) 128 (22): 1507.

https://doi.org/10.1182/blood.V128.22.1507.1507

Published: 2016

Journal Articles

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Melisa Ruiz-Gutierrez, MD PhD, Ozge Vargel Bolukbasi, PhD, Linda Vo, Ryohichi Sugimura, MD PhD, Marilyn Sanchez Bonilla, MS, Andriana Kotini, PhD, Carl D. Novina, MD PhD, George Q. Daley, MD PhD, Eirini P. Papapetrou, MD PhD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 1496.

https://doi.org/10.1182/blood.V128.22.1496.1496

Published: 2016

Journal Articles

Hyperactive Non-Canonical TGF-β Pathway Signaling in Fanconi Anemia Bone Marrow Stromal Cells Contributes to Growth Suppression

Kevin O'Connor, Sofia Vidal-Cardenas, PhD, Haojian Zhang, PhD, Alfredo Rodriguez, Lisa Moreau, Chunyu Yang, Michael W Epperly, PhD, Markus Grompe, MD, Akiko Shimamura, MD PhD, Joel S. Greenberger, MD, Kalindi Parmar, PhD, Alan D D'Andrea, MD

Blood (2016) 128 (22): 1039.

https://doi.org/10.1182/blood.V128.22.1039.1039

Published: 2016

Journal Articles

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

Cailin Joyce, PhD, Assieh Saadatpour, PhD, Lan Jiang, PhD, Melisa Ruiz-Gutierrez, MDPhD, Ozge Vargel Bolukbasi, PhD, Inga Hofmann, MD, Colin A. Sieff, MB.BCh, Chad Nusbaum, PhD, Akiko Shimamura, MD PhD, Guo-Cheng Yuan, PhD, Carl D. Novina, MDPhD

Blood (2016) 128 (22): 335.

https://doi.org/10.1182/blood.V128.22.335.335

Published: 2016

Journal Articles

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

Katarzyna Rojek, BS, Eric Nickels, Barbara Niestadt, Rafael Marquez, Amittha Wickrema, PhD, Andrew Artz, MD MS, Koen van Besien, MD, Ming K Lee, Jeremy P. Segal, MD PhD, Mary-Claire King, Tom Walsh, Akiko Shimamura, MD PhD, Sioban Keel, MD, Jane E Churpek, MD, Lucy A Godley, MD PhD

Blood (2015) 126 (23): 3163.

https://doi.org/10.1182/blood.V126.23.3163.3163

Published: 2015

Journal Articles

The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome

Kasiani C. Myers, MD, Audrey Anna Bolyard, RN, BS, Jamie Leung, Joan Moore, Sara Loveless, Leann Mount, Richard E. Harris, MD, Stella M. Davies, MBBS, PhD, Sioban Keel, MD, David C. Dale, MD, Akiko Shimamura, MD PhD

Blood (2015) 126 (23): 3614.

https://doi.org/10.1182/blood.V126.23.3614.3614

Published: 2015

Journal Articles

Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)

David C. Dale, MD, Audrey Anna Bolyard, RN, BS, Cornelia Zeidler, MDMPH, Tracy M. Marrero, Laurence A. Boxer, MD, Peter E. Newburger, MD, Blanche P. Alter, MD MPH, PK Morrow, MD, Mary Ann Bonilla, MD, Yigal Dror, MD FRCP(C), Frank Firkin, MBBS PhDFRACP FRCPA, Sally Kinsey, MD, John E. Levine, MD MS, Daniel C. Link, MD, Lee Reeves, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Karl Welte, MD

Blood (2014) 124 (21): 2730.

https://doi.org/10.1182/blood.V124.21.2730.2730

Published: 2014

Journal Articles

Clinical Spectrum and Molecular Pathophysiology of Shwachman-Diamond Syndrome

Akiko Shimamura, MD, PhD

Blood (2013) 122 (21): SCI-34.

https://doi.org/10.1182/blood.V122.21.SCI-34.SCI-34

Published: 2013

Journal Articles

Translational Profiling Reveals The eIF2 Kinase Pathway As a Mediator Of Dexamethasone Induced Apoptosis In Multiple Myeloma

Nicholas Burwick, MD, Jeffrey J Delrow, Ph.D, Akiko Shimamura, MD, PhD

Blood (2013) 122 (21): 3104.

https://doi.org/10.1182/blood.V122.21.3104.3104

Published: 2013

NARROW

Towards Identifying the Target of Autoimmunity in Aplastic Anemia

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

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

Large Genomic Deletions in Shwachman-Diamond Syndrome

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

Placental Growth Factor (PlGF) Enhances TLR/MK2 Dependent TNF Gene Transcription and Dissociates miRNAs Targeting TNF Regulatory Transcripts from the Polysome

Mutation Burden in Hematopoietic Stem Cells Is Not Increased in Congenital Neutropenia

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Hyperactive Non-Canonical TGF-β Pathway Signaling in Fanconi Anemia Bone Marrow Stromal Cells Contributes to Growth Suppression

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

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

The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome

Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)

Clinical Spectrum and Molecular Pathophysiology of Shwachman-Diamond Syndrome

Translational Profiling Reveals The eIF2 Kinase Pathway As a Mediator Of Dexamethasone Induced Apoptosis In Multiple Myeloma

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American Society of Hematology

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ASH Publications

American Society of Hematology

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