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1. Februar 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome
Haematologica. 2024 Feb 1. >>PubMed-Link<<
Miriam Erlacher, 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, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W Wlodarski, Charlotte M Niemeyer
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26. November 2023 (MyPred)
Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation
Cancers (Basel). 2023 Nov 26. >>PubMed-Link<<
Franziska Schreiber, Guido Piontek, Yuki Schneider-Kimoto, Stephan Schwarz-Furlan, Rita De Vito, Franco Locatelli, Carole Gengler, Ayami Yoshimi, Andreas Jung, Frederick Klauschen, Charlotte M Niemeyer, Miriam Erlacher, Martina Rudelius
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24. Oktober 2023 (MyPred)
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41
Blood Adv. 2023 Oct 24. >>PubMed-Link<<
Claire C Homan, Michael W Drazer, Kai Yu, David M Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew J Pozsgai, Kelsey E McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L King-Smith, Jesse Cheah, Mark Armstrong, Paul Wang, Csaba Bödör, Alan B Cantor, Mario Cazzola, Erin Degelman, Courtney D DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P Hsu, Steven M Holland, Kerry Phillips, Nicola K Poplawski, Milena Babic, Andrew H Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul Liu, Lucy A Godley, Anna L Brown; NISC Comparative Sequencing Program
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1. Oktober 2023 (MyPred)
Down syndrome and leukemia: from basic mechanisms to clinical advances
Haematologica. 2023 Oct 1. >>PubMed-Link<<
André Baruchel, Jean-Pierre Bourquin, John Crispino, Sergi Cuartero, Henrik Hasle, Johann Hitzler, Jan-Henning Klusmann, Shai Izraeli, Andrew A Lane, Sébastien Malinge, Karen R Rabin, Irene Roberts, Sandra Ryeom, Sarah K Tasian, Elvin Wagenblast
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22. September 2023 (MyPred)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
Clin Immunol. 2023 Sep 22. >>PubMed-Link<<
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
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1. September 2023 (MyPred)
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency
Haematologica. 2023 Sep 1. >>PubMed-Link<<
Oskar Marin-Bejar, Damia Romero-Moya, Javier Rodriguez-Ubreva, Maximiliano Distefano, Francesca Lessi, Paolo Aretini, Alessandro Liquori, Julio Castaño, Emilia Kozyra, Lili Kotmayer, Clara Bueno, José Cervera, José Carlos Rodriguez-Gallego, Josep F Nomdedeu, Laura Murillo-Sanjuán, Cristina Díaz De Heredia, Antonio Pérez-Martinez, Félix López-Cadenas, Carolina Martínez-Laperche, Nieves Dorado-Herrero, Francisco M Marco, Felipe Prósper, Pablo Menendez, David Valcárcel, Esteban Ballestar, Csaba Bödör, Anna Bigas, Albert Catalá, Marcin W Wlodarski, Alessandra Giorgetti
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1. April 2023 (MyPred)
Rare and potentially fatal – Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children
Cancer Genet. 2023 Apr. >>PubMed-Link<<
Ann-Cathrine Berking, Tim Flaadt, Yvonne Lisa Behrens, Ayami Yoshimi, Alfred Leipold, Ursula Holzer, Peter Lang, Leticia Quintanilla-Martinez, Brigitte Schlegelberger, Andreas Reiter, Charlotte Niemeyer, Brigitte Strahm, Gudrun Göhring
joint publication ADDRess/MyPred
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1. April 2023 (MyPred)
European standard clinical practice – Key issues for the medical care of individuals with familial leukemia
Eur J Med Genet. 2023 Apr. >>PubMed-Link<<
Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C Jongmans, Alexandra Kolenova, Geertruijte Kronnie, Tim Lammens, Cristina Mecucci, Wojciech Mlynarski, Charlotte M Niemeyer, Francesc Sole, Tomasz Szczepanski, Esmé Waanders, Andrea Biondi, Marcin Wlodarski, Brigitte Schlegelberger, Tim Ripperger
joint publication ADDRess/MyPred
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9. März 2023 (MyPred)
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia
Blood. 2023 Mar 9. >>PubMed-Link<<
Sofia Gialesaki, Daniela Bräuer-Hartmann, Hasan Issa, Raj Bhayadia, Oriol Alejo-Valle, Lonneke Verboon, Anna-Lena Schmell, Stephanie Laszig, Enikő Regényi, Konstantin Schuschel, Maurice Labuhn, Michelle Ng, Robert Winkler, Christian Ihling, Andrea Sinz, Markus Glaß, Stefan Hüttelmaier, Sören Matzk, Lena Schmid, Farina Josepha Strüwe, Sofie-Katrin Kadel, Dirk Reinhardt, Marie-Laure Yaspo, Dirk Heckl, Jan-Henning Klusmann
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23. Februar 2023 (MyPred)
Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograft
Bone Marrow Transplant. 2023 Feb 23. >>PubMed-Link<<
Luca Vinci, Christian Flotho, Peter Noellke, Dirk Lebrecht, Riccardo Masetti, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Tayfun Güngör, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Cristina Diaz de Heredia, Jochen Buechner, Kirsi Jahnukainen, Krisztian Kallay, Ivana Bodova, Owen P Smith, Marco Zecca, Dorine Bresters, Peter Lang, Tania Nicole Masmas, Roland Meisel, Herbert Pichler, Miriam Erlacher, Gudrun Göhring, Franco Locatelli, Brigitte Strahm, Charlotte M Niemeyer, Ayami Yoshimi
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1. November 2022 (MyPred)
Pearson syndrome-like anemia induced by accumulation of mutant mtDNA and anemia with imbalanced white blood cell lineages induced by Drp1 deletion in a murine model
Pharmacol Res. 2022 Nov. >>PubMed-Link<<
Kaori Ishikawa, Yo Honma, Ayami Yoshimi, Shun Katada, Takaya Ishihara, Naotada Ishihara, Kazuto Nakada
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17. Oktober 2022 (MyPred)
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Orphanet J Rare Dis. 2022 Oct 17. >>PubMed-Link<<
Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C Grünert
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10. Oktober 2022 (MyPred)
Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies
Hemasphere. 2022 Oct 12. >>PubMed-Link<<
Martin Kirschner, Benjamin Rolles, Martina Crysandt, Christoph Röllig, Friedrich Stölzel, Michael Kramer, Martin Bornhäuser, Hubert Serve, Uwe Platzbecker, Carsten Müller-Tidow, Kim Kricheldorf, Margherita Vieri, Matthias Begemann, Angela Maurer, Marcin W Wlodarski, Sushree S Sahoo, Tim H Brümmendorf, Edgar Jost, Fabian Beier
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1. Oktober 2022 (MyPred)
Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party
Transplant Cell Ther. 2022 Oct. >>PubMed-Link<<
Simone Cesaro, Jean Donadieu, Marco Cipolli, Jean Hugues Dalle, Jan Styczynski, Riccardo Masetti, Brigitte Strahm, Margherita Mauro, Amal Alseraihy, Mahmoud Aljurf, Carlo Dufour, Regis Peffault de la Tour
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18. August 2022 (MyPred)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer
J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<
Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin
joint publication ADDRess/MyPred/mitoNET
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11. August 2022 (MyPred)
The role of inflammation in hematopoiesis and bone marrow failure: What can we learn from mouse models?
Front Immunol. 2022 Aug 1. >>PubMed-Link<<
Jun Wang, Miriam Erlacher, Juncal Fernandez-Orth
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14. Juli 2022 (MyPred)
Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies
Cancers (Basel). 2022 Jul 14. >>PubMed-Link<<
Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger
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1. Juli 2022 (MyPred)
No time to die? Intrinsic apoptosis signaling in hematopoietic stem and progenitor cells and therapeutic implications
Curr Opin Hematol. 2022 Jul 1. >>PubMed-Link<<
Florian Hagenbourger, Sheila Bohler, Miriam Erlacher
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1. Juni 2022 (MyPred)
Stayin‘ alive: BCL-2 proteins in the hematopoietic system
Exp Hematol. 2022 Jun. >>PubMed-Link<<
Patricia M A Zehnle, Ying Wu, Henrike Pommerening, Miriam Erlacher
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28. März 2022 (MyPred)
The Cytogenetic Landscape of Pediatric Chronic Myeloid Leukemia Diagnosed in Chronic Phase
Cancers (Basel). 2022 Mar 28. >>PubMed-Link<<
Axel Karow, Gudrun Göhring, Stephanie Sembill, Friederike Lutterloh, Fina Neuhaus, Sara Callies, Elke Schirmer, Zofia Wotschofsky, Oisin Roche-Lancaster, Meinolf Suttorp, Manuela Krumbholz, Markus Metzler
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17. Februar 2022 (MyPred)
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
Blood. 2022 Feb 17. >>PubMed-Link<<
Richa Sharma, Sushree S Sahoo, Masayoshi Honda, Sophie L Granger, Charnise Goodings, Louis Sanchez, Axel Künstner, Hauke Busch, Fabian Beier, Shondra M Pruett-Miller, Marcus B Valentine, Alfonso G Fernandez, Ti-Cheng Chang, Vincent Géli, Dmitri Churikov, Sandrine Hirschi, Victor B Pastor, Melanie Boerries, Melchior Lauten, Charikleia Kelaidi, Megan A Cooper, Sarah Nicholas, Jill A Rosenfeld, Sophia Polychronopoulou, Caroline Kannengiesser, Carole Saintomé, Charlotte M Niemeyer, Patrick Revy, Marc S Wold, Maria Spies, Miriam Erlacher, Stéphane Coulon, Marcin W Wlodarski
Details
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13. Januar 2022 (MyPred)
Validation and clinical application of transactivation assays for RUNX1 variant classification
Blood Adv. 2022 Jan 13. >>PubMed-Link<<
Melanie Decker, Anupriya Agarwal, Andreas Benneche, Jane E Churpek, Nicolas Duployez, Adam DuVall, Martijn P T Ernst, Alisa Förster, Hildegunn Høberg Vetti, Michelle Nash, Marc H G P Raaijmakers, Tor Henrik Anderson Tvedt, Adrianna Vlachos, Brigitte Schlegelberger, Thomas Illig, Tim Ripperger
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24. Dezember 2021 (MyPred)
Efficient In Vitro Generation of IL-22-Secreting ILC3 From CD34+ Hematopoietic Progenitors in a Human Mesenchymal Stem Cell Niche
Front Immunol. 2021 Dec 24. >>PubMed-Link<<
Sabrina B Bennstein, Sandra Weinhold, Özer Degistirici, Robert A J Oostendorp, Katharina Raba, Gesine Kögler, Roland Meisel, Lutz Walter, Markus Uhrberg
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9. Dezember 2021 (MyPred)
Association of unbalanced translocation der(1;7) with germline GATA2 mutations
Blood. 2021 Dec 9. >>PubMed-Link<<
Emilia J Kozyra, Gudrun Göhring, Dennis D Hickstein, Katherine R Calvo, Courtney D DiNardo , Michael Dworzak, Valerie de Haas, Jan Starý, Henrik Hasle, Akiko Shimamura, Mark D Fleming, Hiroto Inaba, Sara Lewis, Amy P Hsu, Steven M Holland, Danielle E Arnold, Cristina Mecucci, Siobán B Keel, Alison A Bertuch, Kiran Tawana, Shlomit Barzilai, Shinsuke Hirabayashi, Masahiro Onozawa, Shaohua Lei, Helena Alaiz, Hajnalka Andrikovics, David Betts, Berna H Beverloo, Jochen Buechner, Martin Čermák, José Cervera, Olga Haus, Kirsi Jahnukainen, Kalliopi N Manola, Karin Nebral, Francesco Pasquali, Joelle Tchinda, Dominik Turkiewicz, Nadine Van Roy, Zuzana Zemanova, Victor B Pastor, Brigitte Strahm, Peter Noellke, Charlotte M Niemeyer, Brigitte Schlegelberger, Ayami Yoshimi, Marcin W Wlodarski
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2. Dezember 2021 (MyPred)
Guideline for management of non-Down syndrome neonates with a myeloproliferative disease on behalf of the I-BFM AML Study Group and EWOG-MDS
Haematologica. 2021 Dec 2. >>PubMed-Link<<
Eline J M Bertrums, C Michel Zwaan, Daisuke Hasegawa, Valerie De Haas, Dirk N Reinhardt, Franco Locatelli, Barbara De Moerloose, Michael Dworzak, Arjan Buijs, Petr Smisek, Alexandra Kolenova, Cornelis Jan Pronk, Jan-Henning Klusmann, Ana Carboné, Alina Ferster, Evangelia Antoniou, Soheil Meshinchi, Susana C Raimondi, Charlotte M Niemeyer, Henrik Hasle, Marry M Van den Heuvel-Eibrink, Bianca F Goemans
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1. November 2021 (MyPred)
Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS)
Klin Padiatr. 2021 Nov. >>PubMed-Link<<
Sina Al-Kershi, Richard Golnik, Marius Flasinski, Katharina Waack, Mareike Rasche, Ursula Creutzig, Michael Dworzak, Dirk Reinhardt, Jan-Henning Klusmann
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1. November 2021 (MyPred)
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies
Leukemia. 2021 Nov. >>PubMed-Link<<
Melanie Decker, Tim Lammens, Alina Ferster, Miriam Erlacher, Ayami Yoshimi, Charlotte M Niemeyer, Martijn P T Ernst, Marc H G P Raaijmakers, Nicolas Duployez, Andreas Flaum, Doris Steinemann, Brigitte Schlegelberger, Thomas Illig, Tim Ripperger
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1. November 2021 (MyPred)
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy
Haematologica. 2021 Nov 1. >>PubMed-Link<<
Claire C Homan, Sarah L King-Smith, David M Lawrence, Peer Arts, Jinghua Feng, James Andrews, Mark Armstrong, Thuong Ha, Julia Dobbins, Michael W Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Paul Liu, Lucy A Godley, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Anna L Brown
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27. Oktober 2021 (MyPred)
The regulatory effect of hyaluronan on human mesenchymal stem cells‘ fate modulates their interaction with cancer cells in vitro
Sci Rep. 2021 Oct 27. >>PubMed-Link<<
Christian Vogeley, Özer Degistirici, Sören Twarock, Jessica Wladarz, Oliver Reiners, Tobias Gorges, Jens W Fischer, Roland Meisel, Katharina Gorges
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1. Oktober 2021 (MyPred)
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Nat Med. 2021 Oct. >>PubMed-Link<<
Sushree S Sahoo, Victor B Pastor, Charnise Goodings, Rebecca K Voss, Emilia J Kozyra, Amina Szvetnik, Peter Noellke, Michael Dworzak, Jan Starý, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Barbara De Moerloose, Albert Catala, Krisztián Kállay, Dominik Turkiewicz, Henrik Hasle, Jochen Buechner, Kirsi Jahnukainen, Marek Ussowicz, Sophia Polychronopoulou, Owen P Smith, Oksana Fabri, Shlomit Barzilai, Valerie de Haas, Irith Baumann, Stephan Schwarz-Furlan, European Working Group of MDS in Children (EWOG-MDS); Marena R Niewisch, Martin G Sauer, Birgit Burkhardt, Peter Lang, Peter Bader, Rita Beier, Ingo Müller, Michael H Albert, Roland Meisel, Ansgar Schulz, Gunnar Cario, Pritam K Panda, Julius Wehrle, Shinsuke Hirabayashi, Marta Derecka, Robert Durruthy-Durruthy, Gudrun Göhring, Ayami Yoshimi-Noellke, Manching Ku, Dirk Lebrecht, Miriam Erlacher, Christian Flotho, Brigitte Strahm, Charlotte M Niemeyer, Marcin W Wlodarski
Details
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1. Oktober 2021 (MyPred)
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
Fam Cancer. 2021 Oct. >>PubMed-Link<<
Tim Ripperger, D Gareth Evans, David Malkin, Christian P Kratz
joint publication ADDRess/MyPred
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6. September 2021 (MyPred)
Induced Pluripotent Stem Cells to Model Juvenile Myelomonocytic Leukemia: New Perspectives for Preclinical Research
Cells. 2021 Sep 6. >>PubMed-Link<<
Zeinab Wehbe, Foued Ghanjati, Christian Flotho
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13. Juli 2021 (MyPred)
Current Treatment of Juvenile Myelomonocytic Leukemia
J Clin Med. 2021 Jul 13. >>PubMed-Link<<
Christina Mayerhofer, Charlotte M Niemeyer, Christian Flotho
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9. Juli 2021 (MyPred)
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
Bone Marrow Transplant. 2021 Jul 9. >>PubMed-Link<<
Rachel Bortnick, Marcin Wlodarski, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Riccardo Masetti, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Emilia Kozyra, Michael Albert, Peter Bader, Victoria Bordon, Gunnar Cario, Rita Beier, Johannes Schulte, Dorine Bresters, Ingo Müller, Herbert Pichler, Petr Sedlacek, Martin G Sauer, Marco Zecca, Gudrun Göhring, Ayami Yoshimi, Peter Noellke, Miriam Erlacher, Franco Locatelli, Charlotte M Niemeyer, Brigitte Strahm, for EWOG-MDS
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1. Juli 2021 (MyPred)
A novel classification of hematologic conditions in patients with Fanconi anemia
Haematologica. 2021 Jul 1. >>PubMed-Link<<
Yvonne Lisa Behrens, Gudrun Göhring, Randa Bawadi, Sümeyye Cöktü, Christina Reimer, Beatrice Hoffmann, Birte Sänger, Simon Käfer, Felicitas Thol, Miriam Erlacher, Charlotte M Niemeyer, Irith Baumann, Reinhard Kalb, Detlev Schindler, Christian Peter Kratz
joint publication ADDRess/MyPred
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27. Juni 2021 (MyPred)
Somatic mosaicism in inherited bone marrow failure syndromes
Best Pract Res Clin Haematol. 2021 Jun. >>PubMed-Link<<
Gutierrez-Rodrigues, F., Sahoo, S. S., Wlodarski, M. W., Young, N. S.
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31. Mai 2021 (MyPred)
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies
Fam Cancer. 2021 May 31. >>PubMed-Link<<
Brigitte Schlegelberger, Cristina Mecucci, Marcin Wlodarski
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6. Mai 2021 (MyPred)
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia
Cell Stem Cell. 2021 May 6. >>PubMed-Link<<
Benjamin Dannenmann, Maksim Klimiankou, Benedikt Oswald, Anna Solovyeva, Jehan Mardan, Masoud Nasri, Malte Ritter, Azadeh Zahabi, Patricia Arreba-Tutusaus, Perihan Mir, Frederic Stein, Siarhei Kandabarau, Nico Lachmann, Thomas Moritz, Tatsuya Morishima, Martina Konantz, Claudia Lengerke, Tim Ripperger, Doris Steinemann, Miriam Erlacher, Charlotte M Niemeyer, Cornelia Zeidler, Karl Welte, Julia Skokowa
Details
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1. Mai 2021 (MyPred)
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome
Leukemia. 2021 May. >>PubMed-Link<<
Greta Winter, Renate Kirschner-Schwabe, Stefanie Groeneveld-Krentz, Gabriele Escherich, Anja Möricke, Arend von Stackelberg, Martin Stanulla, Simon Bailey, Lisa Richter, Doris Steinemann, Tim Ripperger, Adela Escudero, Roula Farah, Olli Lohi, Karin Wadt, Marjolijn Jongmans, Nienke van Engelen, Cornelia Eckert, Christian Peter Kratz
joint publication ADDRess/MyPred
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2. März 2021 (MyPred)
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire
Fam Cancer. 2021 Mar. >>PubMed-Link<<
Miriam Schwermer, Astrid Behnert, Beate Dörgeloh, Tim Ripperger, Christian P Kratz
joint publication ADDRess/MyPred
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1. Februar 2021 (MyPred)
Nicotinamide (vitamin B3) treatment improves response to G-CSF in severe congenital neutropenia patients
Br J Haematol. 2021 Feb. >>PubMed-Link<<
Ekaterina Deordieva, Oksana Shvets, Kirill Voronin, Alexei Maschan, Karl Welte, Julia Skokowa, Galina Novichkova, Anna Shcherbina
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28. Januar 2021 (MyPred)
Germline variants drive myelodysplastic syndrome in young adults
Leukemia. 2021 Jan 28. >>PubMed-Link<<
Simone Feurstein, Jane E Churpek, Tom Walsh, Sioban Keel, Marja Hakkarainen, Thomas Schroeder, Ulrich Germing, Stefanie Geyh, Michael Heuser, Felicitas Thol, Christian Pohlkamp, Torsten Haferlach, Juehua Gao, Carolyn Owen, Gudrun Goehring, Brigitte Schlegelberger, Divij Verma, Daniela S Krause, Guimin Gao, Tara Cronin, Suleyman Gulsuner, Ming Lee, Colin C Pritchard, Hari Prasanna Subramanian, Daniela Del Gaudio, Zejuan Li, Soma Das, Outi Kilpivaara, Ulla Wartiovaara-Kautto, Eunice S Wang, Elizabeth A Griffiths, Konstanze Döhner, Hartmut Döhner, Mary-Claire King, Lucy A Godley
joint publication ADDRess/MyPred
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1. Januar 2021 (MyPred)
International Consensus Definition of DNA Methylation Subgroups in Juvenile Myelomonocytic Leukemia
Clin Cancer Res. 2021 Jan 1. >>PubMed-Link<<
Maximilian Schönung, Julia Meyer, Peter Nöllke, Adam B Olshen, Mark Hartmann, Norihiro Murakami, Manabu Wakamatsu, Yusuke Okuno, Christoph Plass, Mignon L Loh, Charlotte M Niemeyer, Hideki Muramatsu, Christian Flotho, Elliot Stieglitz, Daniel B Lipka
Details
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23. Oktober 2020 (MyPred)
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns
Front Pediatr. 2020 Oct 23. >>PubMed-Link<<
Richa Sharma, Sara Lewis, Marcin W Wlodarski
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29. Juli 2020 (MyPred)
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes
Best Pract Res Clin Haematol. 2020 Jul 29. [Epub ahead of print] >>PubMed-Link<<
Sushree S. Sahoo, Emilia J. Kozyra, Marcin W. Wlodarskia,
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6. Juli 2020 (MyPred)
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia
Clin Genet. 2020 Jul 6. [Epub ahead of print] >>PubMed-Link<<
Jan Hendrik Niemann, Chen Du, Susanne Morlot, Gunnar Schmidt, Bernd Auber, Beate Kaune, Gudrun Göhring, Tim Ripperger, Brigitte Schlegelberger, Winfried Hofmann, Thomas Smol, Emilie Ait-Yahya, Anna Raimbault, Anne Lambilliotte, Florence Petit, Doris Steinemann
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18. Juni 2020 (MyPred)
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
Leukemia. 2020 Jun 18. [Epub ahead of print] >>PubMed-Link<<
Emilia J Kozyra, Victor B Pastor, Stylianos Lefkopoulos, Sushree S Sahoo, Hauke Busch, Rebecca K Voss, Miriam Erlacher, Dirk Lebrecht, Enikoe A Szvetnik, Shinsuke Hirabayashi, Ramunė Pasaulienė, Lucia Pedace, Marco Tartaglia, Christian Klemann, Patrick Metzger, Melanie Boerries, Albert Catala, Henrik Hasle, Valerie de Haas, Krisztián Kállay, Riccardo Masetti, Barbara De Moerloose, Michael Dworzak, Markus Schmugge, Owen Smith, Jan Starý, Ester Mejstrikova, Marek Ussowicz, Emma Morris, Preeti Singh, Matthew Collin, Marta Derecka, Gudrun Göhring, Christian Flotho, Brigitte Strahm, Franco Locatelli, Charlotte M Niemeyer, Eirini Trompouki, Marcin W Wlodarski,
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1. Juni 2020 (MyPred)
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells
Gene Ther. 2020 Jun. [Epub ahead of print] >>PubMed-Link<<
Dirk Hoffmann, Johannes Kuehle, Daniela Lenz, Friederike Philipp, Daniela Zychlinski, Nico Lachmann, Thomas Moritz, Doris Steinemann, Michael Morgan, Julia Skokowa, Christoph Klein, Axel Schambach