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Enikoe Amina Szvetnik
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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

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Marcin W. Wlodarski, MD PhD, Lydie M. Da Costa, MD PhD, Marie-Francoise O'-Donohue, Marc Gastou, Ina Hainmann, Enikoe Amina Szvetnik, Thierry Leblanc, MD, Marc Bierings, MD PhD, Nathalie Montel-Lehry, Hannah Tamary, MD, Charlotte M. Niemeyer, MD, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
Journal: Blood
Blood (2017) 130 (Supplement 1): 1172.
https://doi.org/10.1182/blood.V130.Suppl_1.1172.1172
Published: 2017
Journal Articles

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

Enikoe Amina Szvetnik, Christian Klemann, Ina Hainmann, Marie-Francoise O'-Donohue, Tamás Farkas, Marena Niewisch, Regine Grosse, MD, Gabriele Escherich, MD, Sule Unal, Naz Guleray, Muge Gokce, Lydie Da Costa, Thierry LeBlanc, MD, Hélène Dollfus, Eusebia Lara-Villacanas, Thomas Wiesel, Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Doris Steinemann, PhD, Myriam Lorenz, Klaus Schwarz, Stephan Ehl, Michael Hershfield, Pierre-Emmanuel Gleizes, Charlotte M. Niemeyer, MD, Alyson W. MacInnes, Marcin W. Wlodarski, MD PhD
Journal: Blood
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

Emilia J Kozyra, Victor Pastor Loyola, MSc, Claudia Wehr, Sushree Sangita Sahoo, M.Sc., Rebecca Voss, Enikoe Amina Szvetnik, Shinsuke Hirabayashi, MD, Albert Catala, Henrik Hasle, MD PhD, Marry M. Van den Heuvel-Eibrink, MD, Krisztián Kallay, MD, Riccardo Masetti, MDPhD, Barbara De Moerloose, MD PhD, Markus Schmugge, MD, Owen Smith, MD, Marek Ussowicz, Jan Stary, Ester Mejstrikova, Ramunė Pasaulienė, Irith Baumann, Dr. MD, Gudrun Göhring, MD, Brigitte Schlegelberger, Prof. Dr., Ulrich Salzer, Michael Lübbert, Eirini Trompouki, PhD, Charlotte M. Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2449.
https://doi.org/10.1182/blood.V130.Suppl_1.2449.2449
Published: 2017