GENOME SEQUENCING APPROACHES FOR DIAGNOSIS AND DISCOVERY OF BMF/MDS SPECIFIC GENETIC ALTERATIONS by Marcin Wlodarski

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DEVELOPMENT OF NEW GENE EDITING APPROACHES FOR BONE MARROW FAILURE AND MDS PREDISPOSITION SYNDROMES by Damian Krzyzanowski, Mjad Khiami, Lei Han, Sushree Sahoo, Shondra Miller, Shengdar Tsai, Senthil Bhoopalan, Jonathan Yen, Marcin Wlodarski

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GERMLINE LOSS-OF-FUNCTION MUTATIONS IN MDM4 CAUSE A NEW BONE MARROW FAILURE SYNDROME WITH TP53- DEPENDENT HEMATOPOIETIC CELL DEATH by Richa Sharma, Senthil Velan Bhoopalan, Robert Meyer, Lei Han, Shondra M. Pruett-Miller, Claudia Khurana, Miriam Erlacher, Jean Soulier, Fabian Beier, Marcin Wlodarski

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Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene by Richa Sharma, Ninad Oak, Wenan Chen, Rose Gogal, Martin Kirschner, Martin Kirschner, Fabian Beier, Fabian Beier, Michael J. Schnieders, Maria Spies, Kim E. Nichols, Marcin Wlodarski

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O11: Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP variant curation rules for GATA2* by Shruthi Mohan, Eran Tallis, Taylor Walker, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, Lucy Godley

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GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS by Lili Kotmayer, Emilia Kozyra, Maximilian Kaiser, Michael Dworzak, Barbara De Moerloose, Jan Starý, Henrik Hasle, Kirsi Jahnukainen, Sophia Polychronopoulou, Krisztián Kállay, Owen Smith, Shlomit Barzilai, Riccardo Masetti, Jochen Buechner, Marek Ussowicz, Paula Kjollerstrom, Ivana Boďová, Marko Kavcic, Albert Catala, Dominik Turkiewicz, Markus Schmugge, Valérie De Haas, Rebecca Voss, Anna Bigas, Damia Romero, Csaba Bödör, Miriam Erlacher, Alessandra Giorgetti, Charlotte Niemeyer, Marcin Wlodarski

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NPM1 MUTATIONS IN CHILDREN WITH MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS by Ayami Yoshimi, Miriam Erlacher, Peter Noellke, Senthilkumar Ramamoorthy, Gudrun Göhring, Shlomit Barzilai – Birenboim, Ivana Bodova, Jochen Buechner, Albert Catala, Valérie De Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Kirsi Jahnukainen, Krisztian Kallay, Marko Kavcic, Paula Kjollerstrom, Franco Locatelli, Riccardo Masetti, Sophia Polychronopoulou, Markus Schmugge, Owen Smith, Jan Stary, Dominik Turkiewicz, Marek Ussowicz, Natalia Rotari, Marcin Wlodarski, Brigitte Strahm, Charlotte Niemeyer

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RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia by Daniel B. Lipka, Tania Witte, Reka Toth, Jing Yang, Manuel Wiesenfarth, Peter Nöllke, Alexandra Fischer, David Brocks, Zuguang Gu, Jeongbin Park, Brigitte Strahm, Marcin Wlodarski, Ayami Yoshimi, Rainer Claus, Michael Lübbert, Hauke Busch, Melanie Boerries, Mark Hartmann, Maximilian Schönung, Umut Kilik, Jens Langstein, Justyna A. Wierzbinska, Caroline Pabst, Swati Garg, Albert Catalá, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Owen Smith, Jan Stary, Marek Ussowicz, Marry M. van den Heuvel-Eibrink, Yassen Assenov, Matthias Schlesner, Charlotte Niemeyer, Christian Flotho, Christoph Plass

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