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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

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

Opposing Pathogenesis of Germline SAMD9/SAMD9L Variants in Adult Myelodysplastic Syndrome (MDS)

Yasunobu Nagata, Satoshi Narumi, MD PhD, Yihong Guan, Bartlomiej P. Przychodzen, Cassandra M. Hirsch, Hideki Makishima, MD PhD, Hirohito Shima, Victor Pastor Loyola, MSc, Teodora Kuzmanovic, BA, Tomas Radivoyevitch, PhD, Vera Adema, PhD, Hassan Awada, MD, Kenichi Yoshida, MD PhD, Francesc Sole, PhD, Babal K. Jha, Rabi Hanna, MD, Thomas Laframboise, PhD, Seishi Ogawa, MD PhD, Mikkael A. Sekeres, MD MS, Marcin W. Wlodarski, MD PhD, Jorg Cammenga, MD, Jaroslaw P. Maciejewski
Journal: Blood
Blood (2018) 132 (Supplement 1): 4351.
https://doi.org/10.1182/blood-2018-99-119896
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

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes

Yasunobu Nagata, Satoshi Narumi, Yihong Guan, Bartlomiej P. Przychodzen, Cassandra M. Hirsch, Hideki Makishima, Hirohito Shima, Mai Aly, Victor Pastor, Teodora Kuzmanovic, Tomas Radivoyevitch, Vera Adema, Hassan Awada, Kenichi Yoshida, Samuel Li, Francesc Sole, Rabi Hanna, Babal K. Jha, Thomas LaFramboise, Seishi Ogawa, Mikkael A. Sekeres, Marcin W. Wlodarski, Jörg Cammenga, Jaroslaw P. Maciejewski
Journal: Blood
Blood (2018) 132 (21): 2309–2313.
https://doi.org/10.1182/blood-2017-05-787390
Published: 2018
Includes: Supplemental data
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
Journal Articles

Germline SAMD9 and SAMD9L Alterations in Adult Myelodysplastic Syndromes

Yasunobu Nagata, MD PhD, Bartlomiej P. Przychodzen, MSc, Cassandra M. Hirsch, BS, Hideki Makishima, MD PhD, Victor Pastor Loyola, MSc, Babal K Jha, PhD, Teodora Kuzmanovic, BA, Tomas Radivoyevitch, PhD, Vera Adema, PhD, Kenichi Yoshida, MD PhD, Samuel Li, BA, Francesc Sole, PhD, Thomas Laframboise, PhD, Rabi Hanna, MD, Mikkael A. Sekeres, MD MS, Seishi Ogawa, MD PhD, Marcin W. Wlodarski, MD PhD, Jorg Cammenga, MD, Jaroslaw P. Maciejewski, PhD MD FACP
Journal: Blood
Blood (2017) 130 (Supplement 1): 1670.
https://doi.org/10.1182/blood.V130.Suppl_1.1670.1670
Published: 2017
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

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

CME
Marcin W. Wlodarski, Shinsuke Hirabayashi, Victor Pastor, Jan Starý, Henrik Hasle, Riccardo Masetti, Michael Dworzak, Markus Schmugge, Marry van den Heuvel-Eibrink, Marek Ussowicz, Barbara De Moerloose, Albert Catala, Owen P. Smith, Petr Sedlacek, Arjan C. Lankester, Marco Zecca, Victoria Bordon, Susanne Matthes-Martin, Jonas Abrahamsson, Jörn Sven Kühl, Karl-Walter Sykora, Michael H. Albert, Bartlomiej Przychodzien, Jaroslaw P. Maciejewski, Stephan Schwarz, Gudrun Göhring, Brigitte Schlegelberger, Annámaria Cseh, Peter Noellke, Ayami Yoshimi, Franco Locatelli, Irith Baumann, Brigitte Strahm, Charlotte M. Niemeyer
Journal: Blood
Blood (2016) 127 (11): 1387–1397.
https://doi.org/10.1182/blood-2015-09-669937
Published: 2016
Includes: Supplemental data