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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

The Fanconi Anemia-Associated Protein NIPA Is Essential for the Nuclear Abundance of FANCD2

Stefanie Kreutmair, Miriam Erlacher, Geoffroy Andrieux, Rouzanna Istvanffy, Alina Rudorf, Melissa Zwick, Tamina Rückert, Milena Pantic, Teresa Poggio, Khalid Shoumariyeh, MD, Tony Andreas Müller, Hiroyuki Kawaguchi, Marie Follo, Cathrin Klingeberg, Marcin Wlodarski, Irith Baumann, Dietmar Pfeifer, Michal Kulinski, Martina Rudelius, Simone Lemeer, Bernhard Kuster, Christine Dierks, Christian Peschel, Nina Cabezas-Wallscheid, Jesus Duque-Afonso, Robert Zeiser, MD, Michael Cleary, Detlev Schindler, Annette Schmitt-Graeff, Melanie Boerries, Charlotte M. Niemeyer, MD, Robert A.J. Oostendorp, Justus Duyster, MD, Anna Lena Illert
Journal: Blood
Blood (2019) 134 (Supplement_1): 3741.
https://doi.org/10.1182/blood-2019-125973
Published: 2019
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

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

Impact of Somatic Mutations on the Outcome of Children and Adolescents with Therapy-Related Myelodysplastic Syndrome

Brigitte Strahm, MD, Marcin W Wlodarski, MD, Victor B Pastor, M.Sc., Bart Przychodzien, PhD, Albert Catala, MD, Michael Dworzak, MD, Oksana Fabri, MD, Henrik Hasle, MD, Kristián Kállay, MD, Riccardo Masetti, MD, Barbara De Moerloose, MD, Marena R Niewisch, MD, Jan Stary, MD, Marek Ussowicz, MD, Ayami Yoshimi, MD, Wilfried Truckenmueller, Peter Noellke, MPH, Gudrun Göhring, MD, Irith Baumann, MD, Franco Locatelli, MD, Charlotte M Niemeyer, MD
Journal: Blood
Blood (2016) 128 (22): 3162.
https://doi.org/10.1182/blood.V128.22.3162.3162
Published: 2016
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
Journal Articles

Clonal Mutational Landscape of Childhood Myelodysplastic Syndromes

Emilia J Kozyra, MSc, Shinsuke Hirabayashi, MD, Victor Bengt Pastor Loyola, MSc, Bartlomiej Przychodzen, MSc, Axel Karow, MD, Albert Catala, MD, Barbara De Moerloose, MD PhD, Michael Dworzak, MD, Henrik Hasle, MD, Riccardo Masetti, MD, Markus Schmugge, MD, Owen Smith, Jan Starý, MD, Marek Ussowicz, MD, Marry M. van den Heuvel-Eibrink, MD PhD, Vit Campr, MD, Rita Devito, MD, Pascale Paepe, MD PhD, Miguel Hernandez-Marti, MD, Gitte Kerndrup, MD, Roos Leguit, MD, Jadwiga Maldyk, MD, Maureen OxSullivan, MD, Ingrid Simonitsch-Klupp, MD, Irith Baumann, MD, Franco Locatelli, Prof, MD PhD, Jaroslaw P. Maciejewski, MD PhD, Brigitte Strahm, MD, Charlotte M Niemeyer, Prof, MD, Marcin W Wlodarski, MD
Journal: Blood
Blood (2015) 126 (23): 1662.
https://doi.org/10.1182/blood.V126.23.1662.1662
Published: 2015
Journal Articles

Bone Marrow Immunophenotyping By Flow Cytometry in Refractory Cytopenia of Childhood

Anna M. Aalbers, Marry M. van den Heuvel-Eibrink, Irith Baumann, Michael Dworzak, MD, Henrik Hasle, MD, Franco Locatelli, Barbara De Moerloose, Markus Schmugge, Ester Mejstrikova, MD, PhD, Michaela Novakova, Marco Zecca, MD, C. Michel Zwaan, Jeroen G. te Marvelde, Anton W Langerak, Jacques J.M. van Dongen, Rob Pieters, Charlotte Niemeyer, Vincent H.J. van der Velden, PhD
Journal: Blood
Blood (2014) 124 (21): 1916.
https://doi.org/10.1182/blood.V124.21.1916.1916
Published: 2014
Journal Articles

Unexpected High Frequency of GATA2 Mutations in Children with Non-Familial MDS and Monosomy 7

Shinsuke Hirabayashi, Brigitte Strahm, Sandra Urbaniak, Axel Karow, Annamaria Cseh, Marry Van Den Heuvel, Selin Aytag, Claudia Wehr, Ales Janda, Jan Stary, Henrik Hasle, Michael Dworzak, Markus Schmugge, Franco Locatelli, Barbara De Moerloose, Albert Catala, Owen Smith, Irith Baumann, Gudrun Göhring, Brigitte Schlegelberger, Charlotte M Niemeyer, Marcin W Wlodarski
Journal: Blood
Blood (2012) 120 (21): 1699.
https://doi.org/10.1182/blood.V120.21.1699.1699
Published: 2012
Journal Articles

Recurrent 6pLOH Is the Most Common Somatic Lesion in Refractory Cytopenia of Childhood and Occurs Very Infrequently in Severe Aplastic Anemia

Marcin W Wlodarski, Shinsuke Hirabayashi, Brigitte Strahm, Sandra Urbaniak, Brigitte Schlegelberger, Ingrid Furlan, Alexandra Fischer, Wilfried Truckenmüller, Ayami Yoshimi-Noellke, Peter Noellke, Irith Baumann, Charlotte M Niemeyer
Journal: Blood
Blood (2012) 120 (21): 644.
https://doi.org/10.1182/blood.V120.21.644.644
Published: 2012
Journal Articles

Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

e-blood
Shinsuke Hirabayashi, Christian Flotho, Jessica Moetter, Michael Heuser, Henrik Hasle, Bernd Gruhn, Thomas Klingebiel, Felicitas Thol, Brigitte Schlegelberger, Irith Baumann, Brigitte Strahm, Jan Stary, Franco Locatelli, Marco Zecca, Eva Bergstraesser, Michael Dworzak, Marry M. van den Heuvel-Eibrink, Barbara De Moerloose, Seishi Ogawa, Charlotte M. Niemeyer, Marcin W. Wlodarski, on behalf of the European Working Group of MDS in Childhood
Journal: Blood
Blood (2012) 119 (11): e96–e99.
https://doi.org/10.1182/blood-2011-12-395087
Published: 2012
Journal Articles

High Incidence of Fanconi Anemia in Patients with a Morphological Picture Consistent with Refractory Cytopenia of Childhood

Ayami Yoshimi, MD, PhD,, Charlotte M. Niemeyer, MD, Irith Baumann, M.D., Stephan Schwarz-Furlan, MD, Detlev Schindler, MD, Wolfram Ebell, MD, Brigitte Strahm, MD
Journal: Blood
Blood (2011) 118 (21): 2780.
https://doi.org/10.1182/blood.V118.21.2780.2780
Published: 2011
Journal Articles

Mutations of the Spliceosome Complex Genes Occur In Adult Patients but Are Very Rare In Children with Myeloid Neoplasia

Shinsuke Hirabayashi, M.D., Jessica Moetter, Ph.D., Kenichi Yoshida, M.D., Michael Heuser, M.D., Henrik Hasle, M.D., Alexandra Fischer, R.N., Brigitte Strahm, M.D., Brigitte Schlegelberger, M.D., Irith Baumann, M.D., Felicitas Thol, M.D., Jan Stary, M.D., Franco Locatelli, M.D., Marco Zecca, M.D., Markus Schmugge, M.D., Michael Dworzak, M.D., Marry M. van den Heuvel-Eibrink, M.D., Barbara De Moerloose, M.D., Seishi Ogawa, M.D., Ph.D., Christian M. Flotho, M.D., Charlotte M. Niemeyer, M.D., Marcin W. Wlodarski, M.D.
Journal: Blood
Blood (2011) 118 (21): 2797.
https://doi.org/10.1182/blood.V118.21.2797.2797
Published: 2011
Journal Articles

Refractory Cytopenia In Childhood (RCC) with Normal Karyotype Is Unlikely to Progress to Advanced MDS Under a Watch and Wait Strategy

Shinsuke Hirabayashi, Brigitte Strahm, Stephan Schwarz, Marco Zecca, Markus Schmugge, Michael Dworzak, Marry van den Heuvel-Eibrink, Henrik Hasle, Barbara De Moerloose, Jan Stary, Dorota Wojcik, Ingrid Furlan, Franco Locatelli, Irith Baumann, Charlotte M Niemeyer
Journal: Blood
Blood (2010) 116 (21): 4007.
https://doi.org/10.1182/blood.V116.21.4007.4007
Published: 2010
Journal Articles

Immunosuppressive therapy for aplastic anemia in children: a more severe disease predicts better survival

Clinical Trials & Observations Brief Report
Monika Führer, Udo Rampf, Irith Baumann, Andreas Faldum, Charlotte Niemeyer, Gritta Janka-Schaub, Wilhelm Friedrich, Wolfram Ebell, Arndt Borkhardt, Christine Bender-Goetze, for the German/Austrian Aplastic Anemia Working Group
Journal: Blood
Blood (2005) 106 (6): 2102–2104.
https://doi.org/10.1182/blood-2005-03-0874
Published: 2005
Journal Articles

Bone Marrow Transplantation and Immunosuppressive Therapy in Children with Aplastic Anemia: Data from a Prospective Multinational Trial in Germany, Austria and Switzerland.

Monika M. Fuehrer, MD, Udo Rampf, MD, Charlotte M. Niemeyer, MD, Andreas Faldum, PhD, Irith Baumann, MD, Wilhelm Friedrich, MD, Wolfram Ebell, MD, Arndt Borkhardt, MD, Christine Bender-Goetze, MD
Journal: Blood
Blood (2004) 104 (11): 1439.
https://doi.org/10.1182/blood.V104.11.1439.1439
Published: 2004
Journal Articles

Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7

Clinical Trials & Observations
Gabriela Kardos, Irith Baumann, S. Jane Passmore, Franco Locatelli, Henrik Hasle, Kirk R. Schultz, Jan Starý, Annette Schmitt-Graeff, Alexandra Fischer, Jochen Harbott, Judith M. Chessells, Ian Hann, Susanna Fenu, Angelo Cantú Rajnoldi, Gitte Kerndrup, Elisabeth van Wering, Tim Rogge, Peter Nöllke, Charlotte M. Niemeyer
Journal: Blood
Blood (2003) 102 (6): 1997–2003.
https://doi.org/10.1182/blood-2002-11-3444
Published: 2003
Journal Articles

Expression of the recombination-activating genes in extrafollicular lymphocytes but no apparent reinduction in germinal center reactions in human tonsils

Nadine Meru, Andreas Jung, Irith Baumann, Gerald Niedobitek
Journal: Blood
Blood (2002) 99 (2): 531–537.
https://doi.org/10.1182/blood.V99.2.531
Published: 2002