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Journal Articles

Integrated analysis of autoantibody profiles and clonal distribution of RAS mutations in juvenile myelomonocytic leukemia

Manabu Wakamatsu, Lili Kotmayer, Masanori Yoshida, Yoshiyuki Takahashi, Marcin Wlodarski, Hideki Muramatsu

Blood (2025) 146 (Supplement 1): 3834.

https://doi.org/10.1182/blood-2025-3834

Published: 2025

Journal Articles

Bone matters: Defining the burden of skeletal disease in telomere biology disorders

Blood (2025) 146 (Supplement 1): 6747.

https://doi.org/10.1182/blood-2025-6747

Published: 2025

Journal Articles

The basis for the differential impact of BCOR and BCORL1 in aplastic anemia/paroxysmal nocturnal hemoglobinuria and myeloid neoplasia

Atsushi Marumo, Arda Durmaz, Aashray Mandala, Christopher Haddad, Felipe Sartori, Olivia Hunyadi, Ersan Unlu, Serhan Unlu, Zachary Brady, Matteo D Addona, Kartik Lakhotiya, Luca Guarnera, Masanori Yoshida, Mark Orland, Carlos Bravo-Perez, Carmelo Gurnari, Marcin Wlodarski, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 3196.

https://doi.org/10.1182/blood-2025-3196

Published: 2025

Journal Articles

Hematopoietic stem cell transplantation using briquilimab (Anti-CD117 Antibody-Conditioning), immunosuppression and TCRαβ+ T-cell/CD19+ B-cell depleted haploidentical grafts in patients with fanconi anemia: An approach without irradiation, busulfan and calcineurin inhibitors.

Blood (2025) 146 (Supplement 1): 2432.

https://doi.org/10.1182/blood-2025-2432

Published: 2025

Journal Articles

Polyclonal somatic gene rescue via uniparental disomy confers multilineage hematopoietic potential in treatment-independent patients with DBA syndrome

Masanori Yoshida, Senthil Bhoopalan, Tsutomu Toki, Rika Kanezaki, Lili Kotmayer, Michelle Boals, Damian Krzyzanowski, Nishi Harwani, Paola Quarello, Ugo Ramenghi, Saskia Langemeijer, Ilja Diets, Kiminori Terui, Jason Farrar, Nathan Gray, Etsuro Ito, Marcin Wlodarski

Blood (2025) 146 (Supplement 1): 746.

https://doi.org/10.1182/blood-2025-746

Published: 2025

Journal Articles

Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes: BMFgenes1.0

Lili Kotmayer, Andrew Willems, Jian Wang, Karishma Gangwani, Julia Weber, Joshua Leow, Sara Lewis, Enrico Attardi, Majd Khiami, Masanori Yoshida, Damian Krzyzanowski, Barbara Kuhn, Sushree Sahoo, Xin Zhou, Marcin Wlodarski

Blood (2025) 146 (Supplement 1): 3222.

https://doi.org/10.1182/blood-2025-3222

Published: 2025

Journal Articles

A prospective, single site, single-arm pilot study of CPX-351 (Vyxeos) in individuals <22 years with secondary myeloid neoplasms

Alyssa Kennedy, Yonghui Ni, Stanley Pounds, Jatinder Lamba, Hiroto Inaba, Matthew Rees, Amr Qudeimat, Emily Montgomery, Raul Ribeiro, Marcin Wlodarski

Blood (2025) 146 (Supplement 1): 2097.

https://doi.org/10.1182/blood-2025-2097

Published: 2025

Journal Articles

ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states

Blood (2025) 146 (Supplement 1): 1440.

https://doi.org/10.1182/blood-2025-1440

Published: 2025

Journal Articles

Adenine Base Editing Improves Erythropoiesis in Diamond-Blackfan Anemia Syndrome Patient-Derived Induced Pluripotent Stem Cells

Shruthi Suryaprakash, Lei Han, Garret Manquen, Varun Katta, Damian Krzyzanowski, Jayaram Prasad, Nikitha Nimmagada, Kalin Mayberry, Nana Liu, Yan Ju, Yu Yao, Kelsey Ray, Marcin Wlodarski, Shengdar Q Tsai, Jonathan S Yen, Mitchell J Weiss, Senthil Velan Bhoopalan

Blood (2024) 144 (Supplement 1): 4088.

https://doi.org/10.1182/blood-2024-209312

Published: 2024

Journal Articles

Refractory Cytopenia in Childhood Under Watch and Wait Strategy: Safe until Adulthood?

Beatrice Drexler, Stephan Schwarz-Furlan, Irith Baumann, Martina Rudelius, Peter Noellke, Dirk Lebrecht, Senthilkumar Ramamoorthy, Natalia Rotari, Axel Karow, Shinsuke Hirabayashi, Marcin Wlodarski, Fabian Beier, Yvonne Lisa Behrens, Gudrun Göhring, Reinhard Kalb, Brigitte Strahm, Miriam Erlacher, Charlotte Marie Niemeyer, Ayami Yoshimi

Blood (2024) 144 (Supplement 1): 1835.

https://doi.org/10.1182/blood-2024-209722

Published: 2024

Journal Articles

Hematological Phenotypes in GATA2 Deficiency Syndrome Arise from Secondary Injuries and Maladaptation to Proliferation

Blood (2024) 144 (Supplement 1): 442.

https://doi.org/10.1182/blood-2024-205165

Published: 2024

Journal Articles

Prospective Genomic Study for Optimizing Clonal Hematopoiesis Surveillance in Bone Marrow Failure Syndromes and Related Cytopenia

Blood (2024) 144 (Supplement 1): 2704.

https://doi.org/10.1182/blood-2024-199328

Published: 2024

Journal Articles

Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

Harry Lesmana, MD, Marcela Popescu, MD, Sara Lewis, MS, LCGC, Sushree Sangita Sahoo, PhD, Charnise Goodings-Harris, PhD, Mihaela Onciu, MD FACP, John Kim Choi, MD FACP, Clifford Takemoto, MD, Kim E. Nichols, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 9–10.

https://doi.org/10.1182/blood-2020-142078

Published: 2020

Journal Articles

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Richa Sharma, MD, Sushree Sangita Sahoo, PhD, Masayoshi Honda, Charnise Goodings-Harris, PhD, Victor Pastor, PhD, Hauke Busch, PhD, Melanie Börries, PhD, Fabian Beier, MD, Miriam Erlacher, MD PhD, Melchior Lauten, Marc Wold, PhD, Maria Spies, PhD, Charlotte M. Niemeyer, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 36–37.

https://doi.org/10.1182/blood-2020-143006

Published: 2020

Journal Articles

Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype

Martin Kirschner, Benjamin Rolles, MD, Martina Crysandt, Christoph Röllig, Prof., MD, Friedrich Stolzel, MD, Martin Bornhäuser, MD, Carsten Müller-Tidow, MD, Kim Kricheldorf, Margherita Vieri, PhD, Matthias Begemann, Angela Maurer, Jens Panse, MD, Susanne Isfort, Marcin Wlodarski, MD PhD, Sushree Sangita Sahoo, PhD, Tim H Brümmendorf, MD, Edgar Jost, Fabian Beier, MD

Blood (2020) 136 (Supplement 1): 41–42.

https://doi.org/10.1182/blood-2020-142815

Published: 2020

Journal Articles

The Fanconi Anemia-Associated Protein NIPA Is Essential for the Nuclear Abundance of FANCD2

Blood (2019) 134 (Supplement_1): 3741.

https://doi.org/10.1182/blood-2019-125973

Published: 2019

Journal Articles

Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Children and Adolescents with GATA2-Related Myelodysplastic Syndrome

Blood (2019) 134 (Supplement_1): 2033.

https://doi.org/10.1182/blood-2019-122403

Published: 2019

Journal Articles

Assessment of Hematological Data in a Cohort of European Children with Sickle Cell Anemia Treated with Hydroxyurea: Can European Centers Apply Today the Lessons from the Twitch Study?

Mariane De Montalembert, MD PhD, Malika Benkerrou, MD, Regine Grosse, MD, Uwe Kordes, MD MRCP, Valentine Brousse, MD, Corinne Pondarré, MD PhD, Corinne Armari-alla, MD, Narcisse Elenga, MD, Marcin Wlodarski, MD, Stephan Lobitz, MD

Blood (2016) 128 (22): 2494.

https://doi.org/10.1182/blood.V128.22.2494.2494

Published: 2016

Journal Articles

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

Sushree Sangita Sahoo, MSc., Caitlin Roake, B.S., Liliana Rindle, MD, Claudia Rössig, MD, Markus Schmugge, MD, Victor B Pastor, M.Sc., Brigitte Strahm, MD, Marena R Niewisch, MD, Gunda Ruzaike, BSc., Steven Artandi, MD PhD, Charlotte M Niemeyer, Prof, MD, Melanie Börries, MD PhD, Hauke Busch, PhD, Marcin Wlodarski, MD

Blood (2016) 128 (22): 3890.

https://doi.org/10.1182/blood.V128.22.3890.3890

Published: 2016

Journal Articles

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

Tim Ripperger, Birgit Burkhardt, PhD MD, Fabian Hauck, MD PhD, Michael H. Albert, MD, Kathrin Thomay, Dr. rer. nat., Marcin Wlodarski, MD, Ayami Yoshimi, MD, Gudrun Göhring, MD, Brigitte Schlegelberger, Prof, MD, Charlotte M Niemeyer, Prof, MD, Doris Steinemann, Prof

Blood (2016) 128 (22): 5509.

https://doi.org/10.1182/blood.V128.22.5509.5509

Published: 2016

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Integrated analysis of autoantibody profiles and clonal distribution of RAS mutations in juvenile myelomonocytic leukemia

Bone matters: Defining the burden of skeletal disease in telomere biology disorders

The basis for the differential impact of BCOR and BCORL1 in aplastic anemia/paroxysmal nocturnal hemoglobinuria and myeloid neoplasia

Hematopoietic stem cell transplantation using briquilimab (Anti-CD117 Antibody-Conditioning), immunosuppression and TCRαβ+ T-cell/CD19+ B-cell depleted haploidentical grafts in patients with fanconi anemia: An approach without irradiation, busulfan and calcineurin inhibitors.

Polyclonal somatic gene rescue via uniparental disomy confers multilineage hematopoietic potential in treatment-independent patients with DBA syndrome

Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes: BMFgenes1.0

A prospective, single site, single-arm pilot study of CPX-351 (Vyxeos) in individuals <22 years with secondary myeloid neoplasms

ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states

Adenine Base Editing Improves Erythropoiesis in Diamond-Blackfan Anemia Syndrome Patient-Derived Induced Pluripotent Stem Cells

Refractory Cytopenia in Childhood Under Watch and Wait Strategy: Safe until Adulthood?

Hematological Phenotypes in GATA2 Deficiency Syndrome Arise from Secondary Injuries and Maladaptation to Proliferation

Prospective Genomic Study for Optimizing Clonal Hematopoiesis Surveillance in Bone Marrow Failure Syndromes and Related Cytopenia

Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype

The Fanconi Anemia-Associated Protein NIPA Is Essential for the Nuclear Abundance of FANCD2

Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Children and Adolescents with GATA2-Related Myelodysplastic Syndrome

Assessment of Hematological Data in a Cohort of European Children with Sickle Cell Anemia Treated with Hydroxyurea: Can European Centers Apply Today the Lessons from the Twitch Study?

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

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