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Journal Articles

Germline SEPT6 mutations in congenital neutropenia and myelodysplastic syndrome induce de novo protein function disrupting hematopoietic stem cell maintenance

Safa Mohamad, Meaghan McGuinness, Yu Zhou, Gabriele Casirati, Adele Mucci, Sara Canovas Nunes, Akiko Shimamura, Pietro Genovese, Eric Allenspach, David Williams

Blood (2025) 146 (Supplement 1): 6754.

https://doi.org/10.1182/blood-2025-6754

Published: 2025

Journal Articles

Evaluation of current diagnostic workup for pediatric severe aplastic anemia: Low incidence of cryptic inherited bone marrow failure syndromes

Blood (2025) 146 (Supplement 1): 1423.

https://doi.org/10.1182/blood-2025-1423

Published: 2025

Journal Articles

Low hematologic event-free survival with age in shwachman-diamond syndrome

Blood (2025) 146 (Supplement 1): 748.

https://doi.org/10.1182/blood-2025-748

Published: 2025

Journal Articles

High prevalence of clonal hematopoiesis in fanconi anemia revealed by whole exome sequencing

Tiago Koppe, Felicia Andresen, Katie Frenis, Chun-Chin Chen, Dahai Wang, Akiko Shimamura, R. Grant Rowe

Blood (2025) 146 (Supplement 1): 745.

https://doi.org/10.1182/blood-2025-745

Published: 2025

Journal Articles

Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute

Blood (2025) 146 (Supplement 1): 3213.

https://doi.org/10.1182/blood-2025-3213

Published: 2025

Journal Articles

Efficient, potent, and specific near-universal base and prime editing for ELANE-mutant severe congenital neutropenia

Jing Zeng, Nola Neri, Josias Soares de Brito, Archana Verma, Sébastien Levesque, Gue-Ho Hwang, Viktoria Jung, Gabriele Casirati, Felicia Andresen, David Justus, Denisa Wagner, John Manis, Danilo Pellin, Pietro Genovese, Akiko Shimamura, Myriam Armant, Scot Wolfe, Peter Newburger, Daniel Bauer

Blood (2025) 146 (Supplement 1): 624.

https://doi.org/10.1182/blood-2025-624

Published: 2025

Journal Articles

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

Gue-Ho Hwang, Michael Peters, Felicia Andresen, Jing Zeng, Haarika Kathi, Sébastien Levesque, Chad Harris, Christy Kolsteeg, Nola Neri, Archana Verma, Eva Wauters, Chi Yuan Zhang, Myriam Armant, Christian Brendel, Scot Wolfe, John Manis, Akiko Shimamura, Daniel Bauer

Blood (2025) 146 (Supplement 1): 1063.

https://doi.org/10.1182/blood-2025-1063

Published: 2025

Journal Articles

Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry

Jane Koo, Meghan Haney, Diana Schwarz, Jaeson Kim, Lois Schwarz, Sarah Steltz, Elizabeth Korn, Leah Cheng, Sara Loveless, Richard Cooper, Claire Dusa, Adam Lane, Juan Putra, Akiko Shimamura, Kasiani Myers, Amit Grover, Andrew Wehrman

Blood (2025) 146 (Supplement 1): 1436.

https://doi.org/10.1182/blood-2025-1436

Published: 2025

Journal Articles

ANKRD26-related thrombocytopenia 2 with a baseline increase in blasts: implications for clinical surveillance

Lara Wahlster, Lucy A. Godley, Jason X. Cheng, Michael W. Drazer, Christopher R. Reilly, Geraldine S. Pinkus, Jared H. Rowe, Nina Weichert-Leahey, R. Grant Rowe, Lev Gorfinkel, Karyn Brundige, Franziska Wachter, Luana Messa, Alan D. Michelson, Alan B. Cantor, Akiko Shimamura, Jacob R. Bledsoe

Blood (2025) 146 (2): 254–259.

https://doi.org/10.1182/blood.2024027368

Published: 2025

Includes: Supplemental data

Journal Articles

Lymphoid malignancies in patients with Shwachman-Diamond syndrome

Helen D. Reed, Hyunwoo Do, Edie Weller, Marian H. Harris, Christopher R. Reilly, Harrison K. Tsai, Jason E. Farrar, Bonnie W. Lau, Lauren Pommert, Christopher Gamper, Ian Atkinson, Katherine Coyne, Margret Joos, Sara Loveless, Sarah Steltz, Leah Cheng, Maggie Malsch, Kasiani Myers, Akiko Shimamura

Blood (2025) 145 (21): 2528–2532.

https://doi.org/10.1182/blood.2024026507

Published: 2025

Journal Articles

Expanding the Morphologic Spectrum of ANKRD26-Related Thrombocytopenia-2: A Case Series

Lara Wahlster, Jared H. Rowe, Nina Weichert-Leahey, Robert Grant Rowe, Karyn Brundige, Lucy Godley, Jason Xiaojun Cheng, Michael W Drazer, Christopher R. Reilly, Alan D. Michelson, Alan B. Cantor, Akiko Shimamura, Jacob R. Bledsoe

Blood (2024) 144 (Supplement 1): 5708.

https://doi.org/10.1182/blood-2024-208018

Published: 2024

Journal Articles

Lymphoid Malignancies in Shwachman-Diamond Syndrome

Helen D. Reed, Hyunwoo Do, Edie A. Weller, Marian H. Harris, Jason E. Farrar, Bonnie W. Lau, Lauren Pommert, Christopher Gamper, Ian Atkinson, Katherine Coyne, Margret Joos, Sara Loveless, Sarah Steltz, Leah Cheng, Maggie Malsch, Kasiani Myers, Akiko Shimamura

Blood (2024) 144 (Supplement 1): 5707.

https://doi.org/10.1182/blood-2024-200116

Published: 2024

Journal Articles

Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry

Ivan Tesakov, Vahagn Makaryan, Audrey Anna Bolyard, Maksim Klimiankou, Yasmine El Chazli, Khoshoua Mohamed, Sabine Mellor-Heineke, Stefanida Shliaga, Akiko Shimamura, Peter E. Newburger, Julia Skokowa, Karl Welte, David C. Dale, Cornelia Zeidler

Blood (2024) 144 (Supplement 1): 2530.

https://doi.org/10.1182/blood-2024-210153

Published: 2024

Journal Articles

Outcomes of Hematopoietic Stem Cell Transplantation for High-Risk Marrow Features without Malignancy in Shwachman-Diamond Syndrome

Felicia Andresen, Jie He, Edie Weller, Ben Goldberg, Christopher R. Reilly, Taizo A. Nakano, Alison A. Bertuch, Amy E. Geddis, Margret Joos, Katherine Coyne, Karyn Brundige, Sara Loveless, Leah Cheng, Kasiani Myers, Akiko Shimamura

Blood (2024) 144 (Supplement 1): 441.

https://doi.org/10.1182/blood-2024-194747

Published: 2024

Journal Articles

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Blood (2024) 144 (Supplement 1): 2703.

https://doi.org/10.1182/blood-2024-206661

Published: 2024

Journal Articles

Outcomes of Immunosuppressive Therapy in Children Less Than Three Years of Age with Idiopathic Severe Aplastic Anemia: A North American Collaboration

Blood (2024) 144 (Supplement 1): 2691.

https://doi.org/10.1182/blood-2024-198302

Published: 2024

Journal Articles

Spontaneous Regression of Monosomy 7 Clone in a Premature Infant with RECQL4 -Associated Syndrome

Sara Canovas Nunes, Helen D. Reed, Yu Zhou, Chad Everett Harris, Felicia Andresen, Aya Abu-El-Haija, Christina Barbera, Jacob R. Bledsoe, Karyn Brundige, Megan Day-Lewis, Alan A Nguyen, Akiko Shimamura, David A Williams

Blood (2024) 144 (Supplement 1): 5712.

https://doi.org/10.1182/blood-2024-208398

Published: 2024

Journal Articles

Tolerance of Whole Genome Duplication in Megakaryocytes, and Consequences for Their Genome Integrity

Antonio Rodriguez-Romera, Rong Li, Nah-Young Shin, Sally-Ann Clark, Assunta Adamo, Affaf Aliouat, Abdullah Khan, Aude-Anais Olijnik, Jill Brown, Lucia Sommerova, Natalie Jooss, Akiko Shimamura, Xin Lu, Guanlin Wang, Stefan N. Constantinescu, Ketan Patel, Adam J Mead, Alan B. Cantor, Bethan Psaila

Blood (2024) 144 (Supplement 1): 421.

https://doi.org/10.1182/blood-2024-203123

Published: 2024

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

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

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Germline SEPT6 mutations in congenital neutropenia and myelodysplastic syndrome induce de novo protein function disrupting hematopoietic stem cell maintenance

Evaluation of current diagnostic workup for pediatric severe aplastic anemia: Low incidence of cryptic inherited bone marrow failure syndromes

Low hematologic event-free survival with age in shwachman-diamond syndrome

High prevalence of clonal hematopoiesis in fanconi anemia revealed by whole exome sequencing

Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute

Efficient, potent, and specific near-universal base and prime editing for ELANE-mutant severe congenital neutropenia

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

Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry

ANKRD26-related thrombocytopenia 2 with a baseline increase in blasts: implications for clinical surveillance

Lymphoid malignancies in patients with Shwachman-Diamond syndrome

Expanding the Morphologic Spectrum of ANKRD26-Related Thrombocytopenia-2: A Case Series

Lymphoid Malignancies in Shwachman-Diamond Syndrome

Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry

Outcomes of Hematopoietic Stem Cell Transplantation for High-Risk Marrow Features without Malignancy in Shwachman-Diamond Syndrome

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Outcomes of Immunosuppressive Therapy in Children Less Than Three Years of Age with Idiopathic Severe Aplastic Anemia: A North American Collaboration

Spontaneous Regression of Monosomy 7 Clone in a Premature Infant with RECQL4 -Associated Syndrome

Tolerance of Whole Genome Duplication in Megakaryocytes, and Consequences for Their Genome Integrity

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

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

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