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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: schanze d. Diagnostics (Basel). 2020 Feb 10;10(2):93. doi: 10.3390/diagnostics10020093. Diagnostics (Basel). 2020. PMID: 32050609 Free PMC article.
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero LC, Zenker M, Schanze D, Schanze I, Peña-Padilla C, Quezada-Salazar CA, Pacheco-Torres PA, Rivera-Montellano ML, Aguirre-Guillén RL, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR. Zepeda-Romero LC, et al. Among authors: schanze d, schanze i. Eur J Med Genet. 2022 Dec;65(12):104653. doi: 10.1016/j.ejmg.2022.104653. Epub 2022 Oct 28. Eur J Med Genet. 2022. PMID: 36330903
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: schanze d. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: schanze i. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
81 results