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A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
Genet Med. 2023 Aug;25(8):100875. doi: 10.1016/j.gim.2023.100875. Epub 2023 May 3.
Genet Med. 2023.
PMID: 37149759
Free article.
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
Schedel A, Friedrich UA, Morcos MNF, Wagener R, Mehtonen J, Watrin T, Saitta C, Brozou T, Michler P, Walter C, Försti A, Baksi A, Menzel M, Horak P, Paramasivam N, Fazio G, Autry RJ, Fröhling S, Suttorp M, Gertzen C, Gohlke H, Bhatia S, Wadt K, Schmiegelow K, Dugas M, Richter D, Glimm H, Heinäniemi M, Jessberger R, Cazzaniga G, Borkhardt A, Hauer J, Auer F.
Schedel A, et al. Among authors: menzel m.
Int J Mol Sci. 2022 May 5;23(9):5174. doi: 10.3390/ijms23095174.
Int J Mol Sci. 2022.
PMID: 35563565
Free PMC article.
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Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood.
Michler P, Schedel A, Witschas M, Friedrich UA, Wagener R, Mehtonen J, Brozou T, Menzel M, Walter C, Nabi D, Pearce G, Erlacher M, Göhring G, Dugas M, Heinäniemi M, Borkhardt A, Stölzel F, Hauer J, Auer F.
Michler P, et al. Among authors: menzel m.
Int J Mol Sci. 2021 Oct 26;22(21):11572. doi: 10.3390/ijms222111572.
Int J Mol Sci. 2021.
PMID: 34769003
Free PMC article.
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A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.
Beer A, Beck R, Schedel A, von Bonin M, Meinel J, Friedrich UA, Menzel M, Suttorp M, Brenner S, Fitze G, Lange B, Knöfler R, Hauer J, Auer F.
Beer A, et al. Among authors: menzel m.
Mol Genet Genomic Med. 2021 Sep;9(9):e1746. doi: 10.1002/mgg3.1746. Epub 2021 Aug 12.
Mol Genet Genomic Med. 2021.
PMID: 34382369
Free PMC article.
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