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Journal Articles

NF1 Tumor Suppressor Gene Inactivation in Juvenile Myelomonocytic Leukemia: New Genetic Evidence and Consequences for Diagnostic Work-up

Senthilkumar Ramamoorthy, PhD, Dirk Lebrecht, PhD, Denny Schanze, PhD, Ina Schanze, MD, Ilse Wieland, PhD, Michael H. Albert, MD, Arndt Borkhardt, MD, Dorine Bresters, MD PhD, Jochen Büchner, MDPhD, Albert Catala, MD PhD, Valerie De Haas, MD PhD, Michael Dworzak, MD PhD, Miriam Erlacher, MD PhD, Henrik Hasle, PhD, Kirsi Jahnukainen, MD PhD, Franco Locatelli, MD PhD, Riccardo Masetti, MDPhD, Jan Stary, MD PhD, Dominik Turkiewicz, MD, Luca Vinci, MD, Marcin W. Wlodarski, MD PhD, Ayami Yoshimi, MD PhD, Maria Hess, Melanie Boerries, MD PhD, Charlotte M. Niemeyer, MD, Martin Zenker, MD, Christian Flotho, MD
Journal: Blood
Blood (2020) 136 (Supplement 1): 30–31.
https://doi.org/10.1182/blood-2020-136294
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
Journal: Blood
Blood (2020) 136 (Supplement 1): 36–37.
https://doi.org/10.1182/blood-2020-143006
Published: 2020
Journal Articles

Oncogenic KRAS G12D in the Hematopoietic System Causes NLRP3 Inflammasome Activation Leading to Myeloproliferative Syndrome

Shaima'A Hamarsheh, MSc, BSc, Miriam Erlacher, MD PhD, Lena Osswald, Oliver Gorka, PhD, Justus Duyster, Prof., Olaf Groß, PhD, Claudia Lengerke, MD, Melanie Börries, PhD, Tilman Brummer, PhD, Robert Zeiser, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 2618.
https://doi.org/10.1182/blood-2018-99-114161
Published: 2018
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

Sushree Sangita Sahoo, MSc, Victor Pastor Loyola, MSc, Pritam Kumar Panda, MSc, MS, BSc, Enikoe Amina Szvetnik, Emilia J. Kozyra, MSc, Rebecca K Voss, MD, Dirk Lebrecht, PhD, Shlomit Barzilai, MD, Jochen Büchner, MDPhD, Albert Catala, MD PhD, Barbara De Moerloose, MD PhD, Michael Dworzak, MD, Oksana Fabri, MD, Henrik Hasle, MD, Kirsi Jahnukainen, Krisztián Kállay, MD, Franco Locatelli, Riccardo Masetti, MDPhD, Sophia Polychronopoulou, MD PhD, Markus Schmugge, MD, Jan Stary, MD PhD, Owen P Smith, MD, Dominik Turkiewicz, Marek Ussowicz, Marry M. van den Heuvel-Eibrink, Prof, Peter Noellke, MPH, Gudrun Göhring, MD, Miriam Erlacher, MD PhD, Christian Flotho, Brigitte Strahm, PD Dr., Charlotte Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 643.
https://doi.org/10.1182/blood-2018-99-118389
Published: 2018
Journal Articles

Deletion of the p53 Target Gene PUMA Prevents Bone Marrow Failure in a Dyskeratosis Congenita Mouse Model

Miriam Erlacher, MD PhD, Christian Molnar, Julia Miriam Weiss, Sheila Bohler, Doris Steinemann, PhD, Gudrun Göhring, MD, Andreas Villunger, Verena Labi, Charlotte Niemeyer, MD, Alexander Egle, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 648.
https://doi.org/10.1182/blood-2018-99-116349
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
Journal: Blood
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
Journal: Blood
Blood (2018) 132 (Supplement 1): 105.
https://doi.org/10.1182/blood-2018-99-118910
Published: 2018
Journal Articles

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

Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Jessica Boklan, MD, Georg Schwabe, PD Dr. MD, Brigitte Strahm, PD Dr., Dirk Lebrecht, PhD, Matthias Voss, PhD, Yenan T Bryceson, PhD, Miriam Erlacher, MD PhD, Gerhard Ehninger, Marena Niewisch, MD, Brigitte Schlegelberger, Prof. Dr., Irith Baumann, Dr. MD, John Achermann, MD PhD, Akiko Shimamura, MD, Jochen Hochrein, PhD, Ulf Tedgaard, MD PhD, Lars Nilsson, PhD, Henrik Hasle, MD PhD, Melanie Börries, PhD, Hauke Busch, PhD, Charlotte M. Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 1672.
https://doi.org/10.1182/blood.V130.Suppl_1.1672.1672
Published: 2017
Journal Articles

Lack of the BH3-Only Proteins Bim, Bmf and Puma In Haematopoietic Stem and Progenitor Cells Facilitates Early Reconstitution and Long Term Haematopoiesis.

Miriam Erlacher, MD/PhD, Daniela Bertele, M.Sc., Claudia Woess, MD, Charlotte Marie Niemeyer, MD, Andreas Villunger, PhD, Verena Labi, PhD
Journal: Blood
Blood (2010) 116 (21): 1542.
https://doi.org/10.1182/blood.V116.21.1542.1542
Published: 2010
Journal Articles

Germline Mutations in CBL Cause a Predisposition to Juvenile Myelomonocytic Leukemia.

Charlotte M Niemeyer, Michelle Kang, Ingrid Furlan, MD, Danielle Shin, Debbie S Sakai, MD, Andrea Heinzmann, MD, Sophie Archambeault, BS, Jerry Z. Finklestein, MD, Parinda Mehta, MD, Michael H Albert, MD, Gabriele Kropshofer, MD, Selim Corbacioglu, MD, Peter J. Lang, MD, Miriam Erlacher, MD, Jan Stary, MD, Marry M. van den Heuvel, MD, PhD, Henrik Hasle, MD, Franco Locatelli, Kevin Shannon, MD, Benjamin S. Braun, MD, PhD, Christian Flotho, MD, Mignon L. Loh, MD
Journal: Blood
Blood (2009) 114 (22): 310.
https://doi.org/10.1182/blood.V114.22.310.310
Published: 2009