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Journal Articles

Germline SAMD9/9L MDS Predisposition Syndromes Are Characterized By Complex Clonal Architecture and Lineage-Specific Escape Mechanisms Including Somatic Genetic Rescue in T and B Lymphocytes

Charnise Goodings-Harris, Sushree Sangita Sahoo, Sara Lewis, Emilia J. Kozyra, Marc Arribas-Layton, Senthilkumar Ramamoorthy, Rohith Jesudas, Nathan Gray, Miriam Erlacher, Charlotte M. Niemeyer, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 1195–1196.

https://doi.org/10.1182/blood-2022-163337

Published: 2022

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

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

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

Blood (2018) 132 (Supplement 1): 643.

https://doi.org/10.1182/blood-2018-99-118389

Published: 2018

Journal Articles

5-Azacytidine Is Effective for Targeting Leukemia-Initiating Cells in Juvenile Myelomonocytic Leukemia

Christopher Felix Krombholz, PhD, Lorena Gallego Villar, PhD, Pritam Kumar Panda, MSc, MS, BSc, Sushree Sangita Sahoo, MSc, Marcin W. Wlodarski, MD PhD, Daniel B. Lipka, Christoph Plass, Charlotte Niemeyer, MD, Miriam Erlacher, MD PhD, Christian Flotho

Blood (2018) 132 (Supplement 1): 4342.

https://doi.org/10.1182/blood-2018-99-116594

Published: 2018

Journal Articles

Monosomy 7 As the Initial Hit Followed By Sequential Acquisition of SETBP1 and ASXL1 Driver Mutations in Childhood Myelodysplastic Syndromes

Victor Pastor Loyola, MSc, Pritam Kumar Panda, MSc, MS, BSc, Sushree Sangita Sahoo, MSc, Enikoe Amina Szvetnik, Emilia J. Kozyra, MSc, Rebecca K Voss, MD, Dirk Lebrecht, PhD, Julius Wehrle, MD, Miriam Erlacher, MD PhD, Jan Stary, MD PhD, Christian Flotho, Gudrun Göhring, MD, Brigitte Schlegelberger, MD PhD, Brigitte Strahm, PD Dr., Charlotte Niemeyer, MD, Marcin W. Wlodarski, MD PhD

Blood (2018) 132 (Supplement 1): 105.

https://doi.org/10.1182/blood-2018-99-118910

Published: 2018

Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Blood (2017) 130 (Supplement 1): 874.

https://doi.org/10.1182/blood.V130.Suppl_1.874.874

Published: 2017

Journal Articles

Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations

Blood (2017) 130 (Supplement 1): 2449.

https://doi.org/10.1182/blood.V130.Suppl_1.2449.2449

Published: 2017

Journal Articles

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Blood (2017) 130 (Supplement 1): 1672.

https://doi.org/10.1182/blood.V130.Suppl_1.1672.1672

Published: 2017

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

NARROW

Germline SAMD9/9L MDS Predisposition Syndromes Are Characterized By Complex Clonal Architecture and Lineage-Specific Escape Mechanisms Including Somatic Genetic Rescue in T and B Lymphocytes

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

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

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

5-Azacytidine Is Effective for Targeting Leukemia-Initiating Cells in Juvenile Myelomonocytic Leukemia

Monosomy 7 As the Initial Hit Followed By Sequential Acquisition of SETBP1 and ASXL1 Driver Mutations in Childhood Myelodysplastic Syndromes

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

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American Society of Hematology

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American Society of Hematology

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