The arrival of personalized genomics in bone marrow failure

by Marcin W. Wlodarski
Published 2021-01-01

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns

by Richa Sharma, Richa Sharma, Sara Lewis, Marcin W. Wlodarski, Marcin W. Wlodarski
Published 2020-10-01

Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science

by Senthil Velan Bhoopalan, Senthil Velan Bhoopalan, Shruthi Suryaprakash, Akshay Sharma, Marcin W. Wlodarski
Published 2023-09-01

Reduced toxicity conditioning for hematopoietic stem cell transplantation in children with Diamond-Blackfan anemia

by Amr Qudeimat, Shruthi Suryaprakash, Renee Madden, Ashok Srinivasan, Marcin W. Wlodarski, Senthil Velan Bhoopalan
Published 2024-05-01

Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway.

by Ana T Antunes, Yvonne J Goos, Tamara C Pereboom, Dorien Hermkens, Marcin W Wlodarski, Lydie Da Costa, Alyson W MacInnes
Published 2015-07-01

Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome

by Maria Angeles Lillo Osuna, Lei Han, Jon P. Connelly, Shondra Miller-Preutt, Mitchell J. Weiss, Marcin W. Wlodarski, Senthil Velan Bhoopalan
Published 2024-09-01

Therapeutic implications of variable expression of CD52 on clonal cytotoxic T cells in CD8+ large granular lymphocyte leukemia

by Sanjay R. Mohan, Michael J. Clemente, Manuel Afable, Heather N. Cazzolli, Nelli Bejanyan, Marcin W. Wlodarski, Alan E. Lichtin, Jaroslaw P. Maciejewski
Published 2009-10-01

P698: CRISPR/CAS9 GENE EDITING IN HEMATOPOIETIC STEM CELLS TO MODEL CLONAL COMPETITION IN VIVO AND IN VITRO FOR GATA2 DEFICIENCY

by Damia Romero-Moya, Oskar Marin-Bejar, Maximiliano Distefano, Joan Pera, Julio Castaño, Jessica Gonzalez, Lili Kotmayer, Csaba Bödör, Albert Català, Marcin W Wlodarski, Anna Bigas, Alessandra Giorgetti
Published 2023-08-01

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

by Marcin W. Wlodarski, Marcin W. Wlodarski, Marcin W. Wlodarski, Carsten Speckmann, Carsten Speckmann, Sushree Sangita Sahoo, Sushree Sangita Sahoo, Marta Rizzi, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J. Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J. J. Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R. Ehl, Stephan R. Ehl, Charlotte Niemeyer, Charlotte Niemeyer, Charlotte Niemeyer, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug
Published 2017-05-01

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

by Carsten Speckmann, Carsten Speckmann, Sushree Sangita Sahoo, Sushree Sangita Sahoo, Sushree Sangita Sahoo, Marta Rizzi, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J. Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J. J. Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R. Ehl, Stephan R. Ehl, Charlotte Niemeyer, Charlotte Niemeyer, Charlotte Niemeyer, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug, Marcin W. Wlodarski, Marcin W. Wlodarski, Marcin W. Wlodarski
Published 2017-10-01

An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity

by Senthil Velan Bhoopalan, Jonathan S. Yen, Thiyagaraj Mayuranathan, Kalin D. Mayberry, Yu Yao, Maria Angeles Lillo Osuna, Yoonjeong Jang, Janaka S.S. Liyanage, Lionel Blanc, Steven R. Ellis, Marcin W. Wlodarski, Mitchell J. Weiss
Published 2023-01-01

Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies

by 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
Published 2022-11-01

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

by Victor B. Pastor, Sushree S. Sahoo, Jessica Boklan, Georg C. Schwabe, Ebru Saribeyoglu, Brigitte Strahm, Dirk Lebrecht, Matthias Voss, Yenan T. Bryceson, Miriam Erlacher, Gerhard Ehninger, Marena Niewisch, Brigitte Schlegelberger, Irith Baumann, John C. Achermann, Akiko Shimamura, Jochen Hochrein, Ulf Tedgård, Lars Nilsson, Henrik Hasle, Melanie Boerries, Hauke Busch, Charlotte M. Niemeyer, Marcin W. Wlodarski
Published 2018-03-01

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

by Marcin W. Wlodarski, Lydie Da Costa, Marie-Françoise O’Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainmann, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M. di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H. Houtkooper, Thierry Leblanc, Charlotte M. Niemeyer, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
Published 2018-06-01

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in <i>RPL35A</i>

by D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Published 2020-04-01

A metabolic interplay coordinated by HLX regulates myeloid differentiation and AML through partly overlapping pathways

by Indre Piragyte, Thomas Clapes, Aikaterini Polyzou, Ramon I. Klein Geltink, Stylianos Lefkopoulos, Na Yin, Pierre Cauchy, Jonathan D. Curtis, Lhéanna Klaeylé, Xavier Langa, Cora C. A. Beckmann, Marcin W. Wlodarski, Patrick Müller, Dominic Van Essen, Angelika Rambold, Friedrich G. Kapp, Marina Mione, Joerg M. Buescher, Erika L. Pearce, Alexander Polyzos, Eirini Trompouki
Published 2018-08-01

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

by 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
Published 2023-08-01

P718: EPIGENOME PROFILING REVEALS ABERRANT DNA METHYLATION SIGNATURE IN GATA2 DEFICIENCY

by 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-Cardenas, 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
Published 2023-08-01

Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

by 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
Published 2023-02-01

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

by Eduard J. van Beers, Stephanie van Straaten, D. Holmes Morton, Wilma Barcellini, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat, Janet L. Kwiatkowski, Jennifer A. Rothman, Mukta Sharma, Ellis J. Neufeld, Sujit Sheth, Jenny M. Despotovic, Nina Kollmar, Dagmar Pospíšilová, Christine M. Knoll, Kevin Kuo, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Madeleine Verhovsek, Joachim Kunz, Melissa A. McNaull, Melissa J. Rose, Heather A. Bradeen, Kathryn Addonizio, Anran Li, Hasan Al-Sayegh, Wendy B. London, Rachael F. Grace
Published 2019-02-01