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Page 1
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: favier r. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.
Basso-Valentina F, Donada A, Manchev VT, Lisetto M, Balayn N, Martin JE, Muller D, Oyarzun CPM, Duparc H, Arkoun B, Cumin A, Faivre L, Droin N, Biunno I, Pecci A, Balduini A, Debili N, Antony-Debré I, Marty C, Vainchenker W, Plo I, Favier R, Raslova H. Basso-Valentina F, et al. Among authors: favier r. Haematologica. 2023 Aug 1;108(8):2130-2145. doi: 10.3324/haematol.2022.282049. Haematologica. 2023. PMID: 36794499 Free PMC article.
The European Hematology Association Roadmap for European Hematology Research: a consensus document.
Engert A, Balduini C, Brand A, Coiffier B, Cordonnier C, Döhner H, de Wit TD, Eichinger S, Fibbe W, Green T, de Haas F, Iolascon A, Jaffredo T, Rodeghiero F, Salles G, Schuringa JJ; EHA Roadmap for European Hematology Research. Engert A, et al. Haematologica. 2016 Feb;101(2):115-208. doi: 10.3324/haematol.2015.136739. Epub 2016 Jan 27. Haematologica. 2016. PMID: 26819058 Free PMC article.
Transcriptional diversity during lineage commitment of human blood progenitors.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A. Chen L, et al. Among authors: favier r. Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033. Science. 2014. PMID: 25258084 Free PMC article.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: favier r. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.
Kat M, van Moort I, Bürgisser PE, Kuijpers TW, Hofman M, Favier M, Favier R, Margadant C, Voorberg J, Bierings R. Kat M, et al. Among authors: favier r. Res Pract Thromb Haemost. 2023 Feb 14;7(2):100086. doi: 10.1016/j.rpth.2023.100086. eCollection 2023 Feb. Res Pract Thromb Haemost. 2023. PMID: 36923710 Free PMC article.
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C, Ballerini P, Nguyen G, Mincheva Z, Copin B, Bouslama B, Leverger G, Petit A, Favier R, Lapillonne H, Boutroux H. Liu C, et al. Among authors: favier r. EJHaem. 2022 Nov 6;4(1):145-152. doi: 10.1002/jha2.594. eCollection 2023 Feb. EJHaem. 2022. PMID: 36819173 Free PMC article.
275 results