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Journal Articles

Transient Monosomy 7 Is a Rare Event in Young Children with SAMD9L Syndrome

Felicia Andresen, Martina Sukova, Jan Stary, Barbara De Moerloose, Jutte Van Der Werff Ten Bosch, Michael Dworzak, Markus G Seidel, Sophia Polychronopoulou, Rita Beier, Christian P. Kratz, Michaela Nathrath, Michael C. Frühwald, Gudrun Göhring, Anke K. Bergmann, Christina Mayerhofer, Natalia Rotari, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W Wlodarski, Charlotte M. Niemeyer, Miriam Erlacher
Journal: Blood
Blood (2022) 140 (Supplement 1): 8678–8679.
https://doi.org/10.1182/blood-2022-159221
Published: 2022
Journal Articles

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Masanori Yoshida, Felicia Andresen, Hermann Yang, Sara Lewis, Miriam Erlacher, Dirk Lebrecht, Akiko Shimamura, Charlotte M. Niemeyer, Sushree S Sahoo, Marcin W Wlodarski
Journal: Blood
Blood (2022) 140 (Supplement 1): 5816–5817.
https://doi.org/10.1182/blood-2022-166742
Published: 2022
Journal Articles

Multi-Omics Profiling of JMML HSPCs Reveals Onco-Fetal Reprogramming and Identifies Novel Prognostic Biomarkers and Therapeutic Targets in High-Risk JMML

Mark Hartmann, Ling Hai, Joschka Hey, Maximilian Schönung, Valentin Maurer, Jovana Rajak, Sina Staeble, Jens Langstein, Katharina Bauer, Mariam Hakobyan, Laura Jardine, Sheila Bohler, Dominik Vonficht, Abdul-Habib Maag, Dirk Lebrecht, Kathrin M. Bernt, Roland Roelz, Tobias Boch, Eleonora Khabirova, Pavlo Lutsik, Oliver Stegle, Simon Haas, Muzlifah Haniffa, Sam Behjati, Jan-Philipp Mallm, Christian Buske, Stefan Fröhling, Christoph Plass, Charlotte M. Niemeyer, Christian Flotho, Marc Jan Bonder, Miriam Erlacher, Matthias Schlesner, Daniel B. Lipka
Journal: Blood
Blood (2022) 140 (Supplement 1): 8729–8730.
https://doi.org/10.1182/blood-2022-162224
Published: 2022
Journal Articles

UBTF tandem Duplications Account for a Third of Advanced Pediatric MDS without Genetic Predisposition to Myeloid Neoplasia

Miriam Erlacher, Sebastian Stasik, Ayami Yoshimi, Julia-Annabell Georgi, Gudrun Göhring, Martina Rudelius, Irith Baumann, Stephan Schwarz-Furlan, Barbara De Moerloose, Henrik Hasle, Riccardo Masetti, Shlomit Barzilai-Birenboim, Jan Stary, Marcin W. Wlodarski, Natalia Rotari, Senthilkumar Ramamoorthy, Dirk Lebrecht, Peter Noellke, Brigitte Strahm, Charlotte M. Niemeyer, Christian Thiede
Journal: Blood
Blood (2022) 140 (Supplement 1): 1355–1356.
https://doi.org/10.1182/blood-2022-159002
Published: 2022
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

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

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