1. Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing
    Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Malte Ritter, Marc Sturm, Julia Skokowa, Helen A. Papadaki
    Haematologica. 2024 Dec 1;109(12):4140-4144. doi: 10.3324/haematol.2024.285569.

  2. Neutrophils from patients with acquired neutropenia exhibit alterations in serine protease immunostaining and activity
    Angelika Mazur, Joanna Skrzeczynska-Moncznik, Irene Mavroudi, Christina Maria Perraki, Brice Korkmaz, Helen A. Papadaki, Joanna Cichy
    Br J Haematol. 2024 Oct 2. https://onlinelibrary.wiley.com/doi/10.1111/bjh.19815

  3. Characterization of myeloid-derived suppressor cells in the peripheral blood and bone marrow of patients with chronic idiopathic neutropenia
    Nikoleta Bizymi, Athina Damianaki, Nikoletta Aresti, Anastasios Karasachinidis, Zacharenia Vlata, Matthieu Lavigne, Emmanuel Dialynas, Niki Gounalaki, Irene Stratidaki, Grigorios Tsaknakis, Aristea Batsali, Irene Mavroudi, Maria Velegraki, Ioannis Sperelakis, Charalampos Pontikoglou, Panayotis Verginis, Helen A. Papadaki
    Hemasphere. 2024 Sep 23;8(9):e70005. https://doi.org/10.1002/hem3.70005

  4. Successful repurposing of empagliflozin to treat neutropenia in a severe congenital neutropenia patient with G6PC3 mutations, Metabolism, 2024, 156077, ISSN 0026-0495, https://doi.org/10.1016/j.metabol.2024.156077. Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Christos S. Mantzoros, Maria Veiga-da Cunha, Helen A. Papadaki

  5. CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia. 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. Mol Ther. 2024 Jun 5;32(6):1628-1642. doi: 10.1016/j.ymthe.2024.03.037.

  6. Emerging genetic technologies informing personalized medicine in SDS and other inherited bone marrow failure disorders. Alyssa H. Cull, David G. Kent, and Alan J. Warren. Blood . 2024 Jun 21:blood.2023019986. doi: 10.1182/blood.2023019986.

  7. Longitudinal assessment of clonal hematopoiesis dynamics in chronic idiopathic neutropenia (CIN). G. Tsaknakis, E. Boutakoglou, A-M. Perantonaki, I. Μavroudi, S. Papadakis, P. Kanellou, s. Laidou  and H. Papadaki. https://library.ehaweb.org/eha/2024/eha2024-congress/420884/grigorios.tsaknakis.longitudinal.assessment.of.clonal.hematopoiesis.dynamics.html 

  9. A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation. Larissa Doll, Karl Welte, Julia Skokowa, Baubak Bajoghli. Blood Adv. 2024 May 13:bloodadvances.2023011656. doi: 10.1182/bloodadvances.2023011656dd

  10. Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations. Alexander Zeidler, Natalia Borbaran-Bravo, Benjamin Dannenmann, Malte Ritter, Masoud Nasri, Maksim Klimiankou, Sergey Kandabarau, Azadeh Zahabi, Josef König, Cornelia Zeidler, Julia Skokowa, Karl Welte. Vol. 109 No. 5 (2024): May, 2024 https://doi.org/10.3324/haematol.2023.284033

  11. COVID-19 disease in patients with chronic neutropenia: The experience from the European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias". Michail Spanoudakis, Deniz Yilmaz Karapinar, David Dale, Audrey Anna Bolyard, Emily Tran, Jelena Roganovic, Marije Bartels, Suncica Kapor, Daniela Guardo, Joanne Yacobovich, Christer Nilsson, Valentino Bezzerri, Marco Cipolli, Anna Pegoraro, Emil Aleksov, Margarita Guenova, Carlo Dufour, Francesca Fioredda, Helen A. Papadaki, Jan PalmbladB.J.Haem (2024) (accepted 6th March 2024) https://doi.org/10.1111/bjh.19411

  12. Convergent somatic evolution commences in utero in a germline ribosomopathy. Heather E. Machado, Nina F. Øbro, Nicholas Williams, Shengjiang Tan, Ahmed Z. Boukerrou, Megan Davies, Miriam Belmonte, Emily Mitchell, E. Joanna Baxter, Nicole Mende, Anna Clay, Philip Ancliff, Jutta Köglmeier, Sally B. Killick, Austin Kulasekararaj, Stefan Meyer, Elisa Laurenti, Peter J. Campbell, David G. Kent, Jyoti Nangalia & Alan J. Warren. Nat Commun. 2023 Aug 22;14(1):5092. doi: 10.1038/s41467-023-40896-5.

  14. The chemical landscape of the human ribosome at 1.67 Å resolution. Faille A, Dent KC, Pellegrino S, Jaako P, Warren AJ.  bioRxiv[Preprint].2023 Feb 28:2023.02.28.530191.  doi: https://doi.org/10.1101/2023.02.28.530191. PMID: 36909531

  15. Whole exome sequencing in adult patients with chronic idiopathic neutropenia Grossi, Alice; Tsaknakis, Grigorios; Rusmini, Marta; Ceccherini, Isabella; Uva, Paolo; Miano, Maurizio; Mavroudi, Irene; Boutakoglou, Erasmia; Dufour, Carlo; Fioredda, Francesca; Papadaki, Helen. HemaSphere 2023;7(SUPPL 3):p e5517496, Abstract book https://doi.org/10.1097/01.HS9.0000970068.55174.96

  16. Clinical and immunological features in ACKR1/DARC-associated neutropenia. Jan Palmblad, Ebba Sohlberg, Christer C. Nilsson, Henric Lindqvist, Stefan Deneberg, Paul Ratcliffe, Stephan Meinke, Anette Mörtberg, Monika Klimkowska, Petter Höglund. Blood Adv. 2024 Feb 13;8(3):571-580. https://doi.org/10.1182/bloodadvances.2023010400

  17. The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Action. Fioredda F, Skokowa J, Tamary H, Spanoudakis M, Farruggia P, Almeida A, Guardo D, Höglund P, Newburger PE, Palmblad J, Touw IP, Zeidler C, Warren AJ, Dale DC, Welte K, Dufour C, Papadaki HA. Hemasphere. 2023 Mar 30;7(4):e872. doi: 10.1097/HS9.0000000000000872. PMID: 37008163; PMCID: PMC10065839.

  18. Elastase-dependent congenital neutropenia. Angelika Mazur, Joanna Skrzeczynska-Moncznik, Pawel Majewski, Joanna Cichy. Rare Dis Orphan Drugs J 2023;3:1 DOI: 10.20517/rdodj.2022.12

  19. Long-term dynamics of clonal hematopoiesis in chronic idiopathic neutropenia (CIN) G. Tsaknakis, S. Papadakis, P. Kanellou, E. Boutakoglou, I. Mavroudi, C. Pontikoglou, E. Papadaki. HemaSphere 2022;6(SUPPL 3):730-731. Abstract Book, https://doi.org/10.1097/01.HS9.0000846228.36433.cf

  20. Assessment of the Frequency of Variants of Undetermined Significance (VUS) in Adult Patients with Chronic Idiopathic Neutropenia Studied for Myeloid Gene Mutations By Next Generation Sequencing. Grigorios Tsaknakis, Irene Mavroudi, Erasmia Boutakoglou, Helen A. Papadaki. (Poster in ASH 2022) https://doi.org/10.1182/blood-2022-166190

  21. Autoimmune Neutropenias: Update on Clinical and Biological Features in Children and Adults. Francesca Fioredda, Carlo Dufour, Petter Höglund, Helen A Papadaki, and Jan Palmblad. Hemasphere. 2022 Dec 19;7(1):e814. doi: 10.1097/HS9.0000000000000814

  22. Identification of GFI1 mutations in adult patients with congenital neutropenia, Erasmia Boutakoglou, Maksim Klimiankou, Grigorios Tsaknakis, Elias Drakos,  Julia Skokowa, Helen A Papadaki, Ann Hematol . 2022 Dec;101(12):2771-2773. doi: 10.1007/s00277-022-04977-7. Epub 2022 Sep 16

  23. Isolated neutropenia preceding acute lymphoblastic leukemia in children. Roganovic, J., Ricci, E., Polychronopoulou, S. and Fioredda, F. (2022). Pediatr Blood Cancer e29518. https://doi.org/10.1002/pbc.29518

  24. Cryo-EM reveals the architecture of the PELP1-WDR18 molecular scaffold, Gordon J, Chapus FL, Viverette E, Williams JG, Deterding LJ, Borgnia. MJ, Rodriguez J, Warren AJ, and Stanley RE. Nature Communications, 13, 6783 (2022)

  25. STEPS IN DIAGNOSIS OF CHRONIC IDIOPATHIC NEUTROPENIA: IS IT THE TIME FOR SERBIAN PATIENT REGISTRY? Sanja Veličković, Miodrag Vučić, Nikola Stefanović, Filip Veličković,Eirini Mauroudi, Helen A. Papadaki, Aleksandra Catić Djordjević. Acta Medica Medianae 2022;61(1):85-90. UDC: 616.15-073, doi:10.5633/amm.2022.0112

  26. Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.Nikolouzakis, T. K., Spyridakis, K., Tzardi, M., Tsaknakis, G., Ximeri, M., Klimiankou, M., Chrysos, E., Skokowa, J., & Papadaki, H. A. (2022). Annals of hematology, 10.1007/s00277-022-04772-4. Advance online publication. https://doi.org/10.1007/s00277-022-04772-4

  27. eIF6 rebinding dynamically couples ribosome maturation and translation. Pekka Jaako, Alexandre Faille, Shengjiang Tan, Chi C. Wong, Norberto Escudero-Urquijo, Pablo Castro-Hartmann, Penny Wright, Christine Hilcenko, David J. Adams, Alan J. Warren. Nat Commun 13, 1562 (2022). https://doi.org/10.1038/s41467-022-29214-7

  28. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit. Pedro Rebelo-Guiomar, Simone Pellegrino, Kyle C. Dent, Aldema Sas-Chen, Leonor Miller-Fleming, Caterina Garone, Lindsey Van Haute, Jack F. Rogan, Adam Dinan, Andrew E. Firth, Byron Andrews, Alexander J. Whitworth, Schraga Schwartz, Alan J. Warren, Michal Minczuk. Nature Communications volume 13, Article number: 929 (2022). doi:https://doi.org/10.1038/s41467-022-28503-5

  29. Congenital neutropenia: disease models guiding new treatment strategies. Ivo P Touw. Curr Opin Hematol. 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832.

  30. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit. Pedro Rebelo-Guiomar, Simone Pellegrino, Kyle C. Dent, Aldema Sas-Chen, Leonor Miller-Fleming, Caterina Garone, Lindsey Van Haute, Jack F. Rogan, Adam Dinan, Andrew E. Firth, Byron Andrews, Alexander J. Whitworth, Schraga Schwartz, Alan J. Warren, Michal Minczuk bioRxiv 2021.06.09.447755; doi: https://doi.org/10.1101/2021.06.09.447755

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  33. HectD1 Ubiquitin Ligase Dependent Control of Ribosome Biogenesis Regulates Hematopoietic Stem Cell Regeneration. *Lu K, Gong C, Aruljothi C, Han X, Ren J-G, Donaghy R, Cheng Y, Pellegrino S, Warren, AJ, Paralkar VR and Tong, W. Cell Stem Cell (2021). Mar 4; S1934-5909(21)00058-8. doi: 10.1016/j.stem.2021.02.008. PMID 33711283

  34. ZAP-70 constitutively regulates gene expression and protein synthesis in chronic lymphocytic leukemia. Chen J, Sathiaseelan V, Moore A, Tan S, Chilamakuri CSR, Franklin VNR, Shahsavari A, Jakwerth C, Hake SB, Warren AJ, Mohorianu I, D’Santos C and Ringshausen I. Blood (2021) doi.org/10.1182/blood.2020009960

  35. Incidence and Prognosis of Clonal Hematopoiesis in patients with Chronic Idiopathic Neutropenia. Grigorios Tsaknakis, Anna Galli, Stavros Papadakis, Peggy Mary Kanellou, Chiara Elena, Gabriele Todisco, Elisa Bono, Ettore Rizzo, Elisabetta Molteni, Irene Fragiadaki, Irene Mavroudi, Charalampos Pontikoglou, Anastasios Batas, Stella Maxouri, Emmanouela Linardaki, Nektarios Tavernarakis, Luca Malcovati, Helen A Papadaki Blood 2021; blood.2021010815. doi:https://doi.org/10.1182/blood.2021010815

  36. Somatic genetic rescue of a germline ribosome assembly defect. Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren & Patrick Revy, Nat Commun 12, 5044 (2021). https://doi.org/10.1038/s41467-021-24999-5

  37. iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia. Dannenmann B, Klimiankou M, Oswald B, Solovyeva A, Mardan J, Nasri M, Ritter M, Zahabi A, Arreba-Tutusaus P, Mir P, Stein F, Kandabarau S, Lachmann N, Moritz T, Morishima T, Konantz M, Lengerke C, Ripperger T, Steinemann D, Erlacher M, Niemeyer CM, Zeidler C, Welte K, Skokowa J. Cell Stem Cell. 2021 May 6;28(5):906-922.e6. doi: 10.1016/j.stem.2021.03.023. Epub 2021 Apr 23. PMID: 33894142

  38. Congenital and Acquired Chronic Neutropenias: Challenges, Perspectives and Implementation of the EuNet-INNOCHRON Action. Papadaki ΗΑ, Mavroudi I, Almeida A, Bux J, Cichy J, Dale DC, Donadieu J, Höglund P, Karanfilski O, Mecucci C, Palmblad J, Skokowa J, Stamatopoulos K, Touw I, Warren A, Welte K, Zeidler C, Dufour C. HemaSphere: June 2020 - Volume 4 - Issue 3 - p e406 doi:10.1097/HS9.0000000000000406

  39. Increased frequency of the single nucleotide polymorphism of the DARC/ACKR1 gene associated with ethnic neutropenia in a cohort of European patients with chronic idiopathic neutropenia. Fragiadaki I, Papadakis S, Sevastaki G, Sfyridaki K, Mavroudi I, Goulielmos GN, Kanellou P, Mörtberg A, Höglund P, Gemenetzi K, Stamatopoulos K, Chatzidimitriou A, Palmblad J, Papadaki HA. Am J Hematol. 2020 Apr 3. doi: 10.1002/ajh.25813.

  40. EuNet-INNOCHRON in HemAffairs Issue 5. www.ehaweb.org
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