MyPred - Network for young individuals with syndromes predisposing to myeloid malignancies
What are myeloid malignancies?
During the last decade, an increasing number of novel genetic disorders with predisposition to myeloid malignancy in young individuals has been identified. Like the inherited bone marrow failure syndromes, some of these disorders are associated with other organ dysfunction.
Joint research in the My Pred network
MyPred brings together established researchers and integrates the German branches of two large international patient registries, the EWOG-MDS study (European Working Group of Myelodysplastic Syndrome (MDS) in Childhood) and the SCNIR (Severe Congenital Neutropenia International Registry) as well as the German CML-registry for pediatric patients.
Together with a cohort of individuals with predisposition and preexisting platelet disorder, MyPred includes 550 individuals at risk for myeloid neoplasia. It implements a variety of novel aspects relevant for patient care like deep clinical phenotyping. With standardization of surveillance sequencing panels, dissection of clonal architecture and identification of targetable lesions in preclinical models MyPred will pave the way for precision medicine.
MyPred aims to discover novel causative genetic variants using an integrative whole genome/transcriptome sequencing approach. With research projects focusing on the impact of (epi-)genetic acquired alterations and the role of the bone marrow niche, MyPred will broaden our knowledge on malignant transformation in predisposition syndromes. Comparative outcome studies on stem cell transplantation will provide the scientific basis for revised guidelines of clinical management, while modern information strategies will support self-management of affected patients and families.
Projects- Coordination and outreach module: Prof. Dr. M. Erlacher, Ulm University Medical Center and H. Blöcker, SDS Deutschland e.V.
- Discovery and characterization of genetic entities with predisposition to myeloid malignancies: Prof. Dr. M. Erlacher, Ulm University Medical Center, Dr. M. Klimiankou, University Hospital Tübingen, Prof. M. Metzler, University Hospital Erlangen, PD Dr. T. Ripperger, Hannover Medical School (MHH).
- Mapping clonal architecture to define therapeutic vulnerabilities in children with genetic predisposition to myeloid neoplasia : Prof. C. Niemeyer and Dr. M. Wlodarski, University Medical Center Freiburg, Dr. Yvonne Behrens, Hannover Medical School (MHH) and Prof. Julia Skokowa, University Hospital Tübingen.
- Providing information and clinical care for individuals with inherited predisposition to myeloid malignancies: PD Dr. B. Strahm and PD Dr. A. Yosihimi-Nölke, University Medical Center Freiburg and Dr. C. Zeidler, Hannover Medical School (MHH).
- Understanding functional and phenotypic differences of N-terminal and C-terminal RUNX1 variants in RUNX1-FPD: PD Dr. T. Ripperger, Hannover Medical School (MHH).
- Analysis of the in vivo behaviour of (pre)-leukemia cells to prevent or treat leukemia in severe congenital neutropenia: Prof. Dr. J. Skokowa and Prof. K. Welte, University Hospital Tübingen.
- Biological determinants of clinical diversity in myeloproliferative disorders arising from constitutional rasopathies: Prof. Dr. C. Flotho, University Medical Center Freiburg.
- Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome: Prof. Dr. J.-H. Klusmann, University Hospital Frankfurt – Department for Children and Adolescents.
- Deconvoluting leukemogenesis in dyskeratosis congenita: Prof. Dr. M. Erlacher, Ulm University Medical Center.
- Identification of dysregulated molecular pathways in functionally altered hematopoietic niche cells from patients with predisposition to myeloid malignancy: Prof. Dr. R. Meisel and Dr. M. Remke, University Hospital Düsseldorf.
Prof. Dr. Miriam Erlacher
Ulm University Medical Center
Department of Pediatrics and Adolescent Medicine
Pediatric Hematology and Oncology
Eythstraße 24, Haus 2
89075 Ulm
e-mail: miriam.erlacher@uniklinik-ulm.de
Website: www.mypred.de
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5. June 2024 (MyPred)
CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropeniaMol Ther. 2024 Jun 5. >>Pubmed-Link<<Masoud Nasri, Malte U Ritter, Perihan Mir, Benjamin Dannenmann, Masako M Kaufmann, Patricia Arreba-Tutusaus, Yun Xu, Natalia Borbaran-Bravo, Maksim Klimiankou, Claudia Lengerke, Cornelia Zeidler, Toni Cathomen, Karl Welte, Julia Skokowa
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1. June 2024 (MyPred)
Cytogenetics and genomics in CML and other myeloproliferative neoplasmsBest Practice & Research Clinical Haematology. 2024 June . >>ScienceDirect-Link<<
Hans H. Kreipe, Brigitte Schlegelberger
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1. May 2024 (MyPred)
Assessment of a novel NRAS in-frame tandem duplication causing a myelodysplastic/myeloproliferative neoplasmExp Hematol. 2024 May. >>Pubmed-Link<<
Cora C A Beckmann, Senthilkumar Ramamoorthy, Eirini Trompouki, Wolfgang Driever, Stephan Schwarz-Furlan, Brigitte Strahm, Ayami Yoshimi, Charlotte M Niemeyer, Miriam Erlacher, Friedrich G Kapp
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1. March 2024 (MyPred)
Somatic variant profiling in chronic phase pediatric chronic myeloid leukemiaHaematologica. 2024 Mar 1. >>PubMed-Link<<
Yvonne Lisa Behrens, Laura Gaschler, Ronny Nienhold, Thea Reinkens, Elke Schirmer, Sabine Knöß, Renate Strasser, Stephanie Sembill, Zofia Wotschofsky, Meinolf Suttorp, Manuela Krumbholz, Brigitte Schlegelberger, Markus Metzler, Gudrun Göhring, Axel Karow
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1. February 2024 (MyPred)
Clonal hematopoiesis in children with predisposing conditionsSemin Hematol. 2024 Feb. >>Pubmed-Link<<
Enrico Attardi, Seth J Corey, Marcin W Wlodarski
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1. February 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndromeHaematologica. 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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1. February 2024 (MyPred)
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workupBr J Haematol. 2024 Feb. >>PubMed-Link<<
Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flothozik
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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 TransformationCancers (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. October 2023 (MyPred)
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41Blood 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. October 2023 (MyPred)
Down syndrome and leukemia: from basic mechanisms to clinical advancesHaematologica. 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 ruxolitinibClin 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 deficiencyHaematologica. 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 childrenCancer 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 leukemiaEur 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. March 2023 (MyPred)
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemiaBlood. 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. February 2023 (MyPred)
Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograftBone 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 modelPharmacol Res. 2022 Nov. >>PubMed-Link<<
Kaori Ishikawa, Yo Honma, Ayami Yoshimi, Shun Katada, Takaya Ishihara, Naotada Ishihara, Kazuto Nakada
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17. October 2022 (MyPred)
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failureOrphanet J Rare Dis. 2022 Oct 17. >>PubMed-Link<<
Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C Grünert
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10. October 2022 (MyPred)
Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid MalignanciesHemasphere. 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. October 2022 (MyPred)
Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working PartyTransplant 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 CancerJ 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
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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. July 2022 (MyPred)
Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic MalignanciesCancers (Basel). 2022 Jul 14. >>PubMed-Link<<
Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger
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1. July 2022 (MyPred)
No time to die? Intrinsic apoptosis signaling in hematopoietic stem and progenitor cells and therapeutic implicationsCurr Opin Hematol. 2022 Jul 1. >>PubMed-Link<<
Florian Hagenbourger, Sheila Bohler, Miriam Erlacher
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1. June 2022 (MyPred)
Stayin’ alive: BCL-2 proteins in the hematopoietic systemExp Hematol. 2022 Jun. >>PubMed-Link<<
Patricia M A Zehnle, Ying Wu, Henrike Pommerening, Miriam Erlacher
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28. March 2022 (MyPred)
The Cytogenetic Landscape of Pediatric Chronic Myeloid Leukemia Diagnosed in Chronic PhaseCancers (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. February 2022 (MyPred)
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescueBlood. 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
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13. January 2022 (MyPred)
Validation and clinical application of transactivation assays for RUNX1 variant classificationBlood 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. December 2021 (MyPred)
Efficient In Vitro Generation of IL-22-Secreting ILC3 From CD34+ Hematopoietic Progenitors in a Human Mesenchymal Stem Cell NicheFront 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. December 2021 (MyPred)
Association of unbalanced translocation der(1;7) with germline GATA2 mutationsBlood. 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. December 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-MDSHaematologica. 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 malignanciesLeukemia. 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 malignancyHaematologica. 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. October 2021 (MyPred)
The regulatory effect of hyaluronan on human mesenchymal stem cells’ fate modulates their interaction with cancer cells in vitroSci 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. October 2021 (MyPred)
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromesNat 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
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1. October 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 cancerFam 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 ResearchCells. 2021 Sep 6. >>PubMed-Link<<
Zeinab Wehbe, Foued Ghanjati, Christian Flotho
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13. July 2021 (MyPred)
Current Treatment of Juvenile Myelomonocytic LeukemiaJ Clin Med. 2021 Jul 13. >>PubMed-Link<<
Christina Mayerhofer, Charlotte M Niemeyer, Christian Flotho
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9. July 2021 (MyPred)
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndromeBone 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. July 2021 (MyPred)
A novel classification of hematologic conditions in patients with Fanconi anemiaHaematologica. 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. June 2021 (MyPred)
Somatic mosaicism in inherited bone marrow failure syndromesBest 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. May 2021 (MyPred)
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignanciesFam Cancer. 2021 May 31. >>PubMed-Link<<
Brigitte Schlegelberger, Cristina Mecucci, Marcin Wlodarski
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6. May 2021 (MyPred)
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropeniaCell Stem Cell. 2021 May 6.[Epub ahead of print] >>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
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1. May 2021 (MyPred)
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndromeLeukemia. 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. March 2021 (MyPred)
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaireFam 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. February 2021 (MyPred)
Nicotinamide (vitamin B3) treatment improves response to G-CSF in severe congenital neutropenia patientsBr 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. January 2021 (MyPred)
Germline variants drive myelodysplastic syndrome in young adultsLeukemia. 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. January 2021 (MyPred)
International Consensus Definition of DNA Methylation Subgroups in Juvenile Myelomonocytic LeukemiaClin 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
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23. October 2020 (MyPred)
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsFront Pediatr. 2020 Oct 23. >>PubMed-Link<<
Richa Sharma, Sara Lewis, Marcin W Wlodarski
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29. July 2020 (MyPred)
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromesBest 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. July 2020 (MyPred)
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopeniaClin 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. June 2020 (MyPred)
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiencyLeukemia. 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. June 2020 (MyPred)
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cellsGene 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