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Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. Ramamoorthy S, et al. Among authors: metzger p. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316
Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal.
Buechner P, Hinderer M, Unberath P, Metzger P, Boeker M, Acker T, Haller F, Mack E, Nowak D, Paret C, Schanze D, von Bubnoff N, Wagner S, Busch H, Boerries M, Christoph J. Buechner P, et al. Among authors: metzger p. Diagnostics (Basel). 2020 Feb 10;10(2):93. doi: 10.3390/diagnostics10020093. Diagnostics (Basel). 2020. PMID: 32050609 Free PMC article.
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: metzger p. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.
167 results