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  2. Kozyra, Emilia J. [Author] ; Wlodarski, Marcin W. [Degree supervisor]; Grosschedl, Rudolf [Degree supervisor] Albert-Ludwigs-Universität Freiburg Fakultät für Biologie

    Functional studies of GATA2 germline mutations in GATA2-deficiency disorders

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    Freiburg: Universität, 2021

  4. Wlodarski, Marcin W. [Author] ; Klinik für Pädiatrische Hämatologie und Onkologie Freiburg im Breisgau

    E-RARE-Verbund: Europäisches Diamond-Blackfan-Anämie-Konsortium (Euro DBA), ERARE 2016 : Schlussbericht zu Nr. 3.2 : Laufzeit des Vorhabens: 01.09.2016-31.08.2019 = E-RARE-Network: european diamond-blackfan-anemia consortium (Euro DBA)

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    [Freiburg]: [Albert-Ludwigs-Universität Freiburg], [2019?]

  5. Schlegelberger, Brigitte [Author]; Mecucci, Cristina [Author]; Wlodarski, Marcin W. [Author]

    Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies

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    Dordrecht [u.a.]: Springer, 2021

    Published in: Familial cancer ; 20 (2021), 295–303

  7. Sahoo, Sushree Sangita [Author]; Kozyra, Emilia J. [Author]; Wlodarski, Marcin W. [Author]

    Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes

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    Amsterdam [u.a.]: Elsevier, 2020

    Published in: Best practice & research. Clinical haematology ; 33, 3 (2020), 101197

  8. Botezatu, Lacramioara [Author]; Wlodarski, Marcin W. [Author]; Niemeyer, Charlotte [Author]; Khandanpour, Cyrus [Author]

    GFI136N as a therapeutic and prognostic marker for myelodysplastic syndrome

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    Amsterdam [u.a.]: Elsevier Science, 2016

    Published in: Experimental hematology ; 44, 7 (2016), 590-595.e1

  9. Buonocore, Federica [Author]; Strahm, Brigitte [Author]; Erlacher, Miriam [Author]; Wlodarski, Marcin W. [Author]; Achermann, John C. [Author]

    Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

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    Ann Arbor, Mich.: American Society for Clinical Investigation, 2017

    Published in: The journal of clinical investigation ; 127, 5 (2017), 1700-1713

  10. Lezzerini, Marco [Author]; Penzo, Marianna [Author]; O’Donohue, Marie-Françoise [Author]; Marques dos Santos Vieira, Carolina [Author]; Saby, Manon [Author]; Wlodarski, Marcin W. [Author]; MacInnes, Alyson W. [Author]

    Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

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    Oxford: Oxford University Press, 2020

    Published in: Nucleic acids research ; 48, 2 (2020), 770-787

  11. Kotmayer, Lili [Author]; Romero‐Moya, Damia [Author]; Marin‐Bejar, Oskar [Author]; Kozyra, Emilia J. [Author]; Catala, Albert [Author]; Bigas, Anna [Author]; Wlodarski, Marcin W. [Author]; Bödör, Csaba [Author]; Giorgetti, Alessandra [Author]

    GATA2 deficiency and MDS/AML : experimental strategies for disease modelling and future therapeutic prospects

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    Oxford: Wiley, 2022

    Published in: British journal of haematology ; 199, 4 (2022), 482-495

  12. Bortnick, Rachel [Author]; Wlodarski, Marcin W. [Author]; Kozyra, Emilia J. [Author]; Yoshimi-Nöllke, Ayami [Author]; Yoshimi-Nöllke, Ayami [Author]; Nöllke, Peter [Author]; Erlacher, Miriam [Author]; Niemeyer, Charlotte [Author]; Strahm, Brigitte [Author]; Flotho, Christian [Author]; Lebrecht, Dirk [Author]; Rathmann, Sylvia [Author]

    Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

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    Berlin: Springer, 2021

    Published in: Bone marrow transplantation ; 56 (2021), 2732–2741

  13. Speckmann, Carsten [Author]; Sahoo, Sushree Sangita [Author]; Rizzi, Marta [Author]; Hirabayashi, Shinsuke [Author]; Rindle, Liliana Annette [Author]; Seidl, Maximilian [Author]; Rensing-Ehl, Anne [Author]; Lausch, Ekkehart [Author]; Strahm, Brigitte [Author]; Ehl, Stephan [Author]; Niemeyer, Charlotte [Author]; Wlodarski, Marcin W. [Author]

    Clinical and molecular heterogeneity of RTEL1 deficiency

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    Lausanne: Frontiers Media, 2017

    Published in: Frontiers in immunology ; 8 (2017), 449

  14. Speckmann, Carsten [Author]; Sahoo, Sushree Sangita [Author]; Rizzi, Marta [Author]; Hirabayashi, Shinsuke [Author]; Rindle, Liliana Annette [Author]; Seidl, Maximilian [Author]; Rensing-Ehl, Anne [Author]; Lausch, Ekkehart [Author]; Strahm, Brigitte [Author]; Ehl, Stephan [Author]; Niemeyer, Charlotte [Author]; Wlodarski, Marcin W. [Author]

    Corrigendum: Clinical and molecular heterogeneity of RTEL1 deficiency

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    Lausanne: Frontiers Media, 2017

    Published in: Frontiers in immunology ; 8 (2017), 1215

  15. Kirschner, Martin [Author]; Vieri, Margherita [Author]; Kricheldorf, Kim [Author]; Ventura Ferreira, Mónica Sofia [Author]; Wlodarski, Marcin W. [Author]; Schwarz, Michaela [Author]; Balabanov, Stefan [Author]; Rolles, Benjamin [Author]; Isfort, Susanne [Author]; Koschmieder, Steffen [Author]; Höchsmann, Britta Elisabeth Hedwig [Author]; Panse, Jens Peter [Author]; Brümmendorf, Tim Henrik [Author]; Beier, Fabian [Author]

    Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita

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    Oxford: Wiley, 2020

    Published in: British journal of haematology ; 2020

  16. Kozyra, Emilia J. [Author]; Pastor Loyola, Victor Bengt [Author]; Lefkopoulos, Stylianos [Author]; Sahoo, Sushree Sangita [Author]; Busch, Hauke [Author]; Voss, Rebecca K. [Author]; Erlacher, Miriam [Author]; Lebrecht, Dirk [Author]; Szvetnik, Amina [Author]; Hirabayashi, Shinsuke [Author]; Metzger, Patrick [Author]; Börries, Melanie [Author]; Flotho, Christian [Author]; Strahm, Brigitte [Author]; Wlodarski, Marcin W. [Author]

    Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

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    Berlin: Springer Nature, 2020

    Published in: Leukemia ; 34, 10 (2020), 2673-2687

  17. Aspesi, Anna [Author]; Monteleone, Valentina [Author]; Betti, Marta [Author]; Actis, Chiara [Author]; Morleo, Giulia [Author]; Sculco, Marika [Author]; Guarrera, Simonetta [Author]; Wlodarski, Marcin W. [Author]; Ramenghi, Ugo [Author]; Santoro, Claudio [Author]; Ellis, Steven R. [Author]; Loreni, Fabrizio [Author]; Follenzi, Antonia [Author]; Dianzani, Irma [Author]

    Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

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    [London]: Macmillan Publishers Limited, part of Springer Nature, 2017

    Published in: Scientific reports ; 7 (2017), 12010

  18. Lipka, Daniel [Author]; Witte, Tania [Author]; Nöllke, Peter [Author]; Fischer, Alexandra [Author]; Strahm, Brigitte [Author]; Wlodarski, Marcin W. [Author]; Yoshimi-Nöllke, Ayami [Author]; Claus, Rainer [Author]; Lübbert, Michael [Author]; Busch, Hauke [Author]; Börries, Melanie [Author]; Niemeyer, Charlotte [Author]; Flotho, Christian [Author]; Plass, Christoph [Author]

    RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia

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    London: Nature Publishing Group UK, 2017

    Published in: Nature communications ; 8 (2017), 2126

  19. Gianferante, D. Matthew [Author]; Wlodarski, Marcin W. [Author]; Atsidaftos, Evangelia [Author]; Da Costa, Lydie [Author]; Delaporta, Polyxeni [Author]; Farrar, Jason E. [Author]; Goldman, Frederick D. [Author]; Hussain, Maryam [Author]; Kattamis, Antonis [Author]; Leblanc, Thierry [Author]; Lipton, Jeffrey M. [Author]; Niemeyer, Charlotte [Author]; Pospíšilová, Dagmar [Author]; Quarello, Paola [Author]; Ramenghi, Ugo [Author]; Sankaran, Vijay G. [Author]; Vlachos, Adrianna [Author]; Volejnikova, Jana [Author]; Alter, Blanche P. [Author]; Savage, Sharon A. [Author]; Giri, Neelam [Author]

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

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    Pavia: Ferrata Storti Foundation (Haematologica), 2021

    Published in: Haematologica ; 106, 5 (2021), 1303-1310

  20. Abdulhay, Nour J. [Author]; Fiorini, Claudia [Author]; Verboon, Jeffrey M. [Author]; Ludwig, Leif Si-Hun [Author]; Ulirsch, Jacob C. [Author]; Zieger, Barbara [Author]; Lareau, Caleb A. [Author]; Mi, Xiaoli [Author]; Roy, Anindita [Author]; Obeng, Esther A. [Author]; Erlacher, Miriam [Author]; Gupta, Namrata [Author]; Gabriel, Stacey B. [Author]; Ebert, Benjamin L. [Author]; Niemeyer, Charlotte [Author]; Khoriaty, Rami N. [Author]; Ancliff, Philip [Author]; Gazda, Hanna T. [Author]; Wlodarski, Marcin W. [Author]; Sankaran, Vijay G. [Author]

    Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

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    New York, NY: Rockefeller University Press, 2019

    Published in: The journal of experimental medicine ; 216, 5 (2019), 1050-1060