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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: klaas o. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Loss-of-function uORF mutations in human malignancies.
Schulz J, Mah N, Neuenschwander M, Kischka T, Ratei R, Schlag PM, Castaños-Vélez E, Fichtner I, Tunn PU, Denkert C, Klaas O, Berdel WE, von Kries JP, Makalowski W, Andrade-Navarro MA, Leutz A, Wethmar K. Schulz J, et al. Among authors: klaas o. Sci Rep. 2018 Feb 5;8(1):2395. doi: 10.1038/s41598-018-19201-8. Sci Rep. 2018. PMID: 29402903 Free PMC article.
Author Correction: Loss-of-function uORF mutations in human malignancies.
Schulz J, Mah N, Neuenschwander M, Kischka T, Ratei R, Schlag PM, Castaños-Vélez E, Fichtner I, Tunn PU, Denkert C, Klaas O, Berdel WE, von Kries JP, Makalowski W, Andrade-Navarro MA, Leutz A, Wethmar K. Schulz J, et al. Among authors: klaas o. Sci Rep. 2021 Jan 28;11(1):2917. doi: 10.1038/s41598-021-82176-6. Sci Rep. 2021. PMID: 33510296 Free PMC article. No abstract available.
ITIH5 mediates epigenetic reprogramming of breast cancer cells.
Rose M, Kloten V, Noetzel E, Gola L, Ehling J, Heide T, Meurer SK, Gaiko-Shcherbak A, Sechi AS, Huth S, Weiskirchen R, Klaas O, Antonopoulos W, Lin Q, Wagner W, Veeck J, Gremse F, Steitz J, Knüchel R, Dahl E. Rose M, et al. Among authors: klaas o. Mol Cancer. 2017 Feb 23;16(1):44. doi: 10.1186/s12943-017-0610-2. Mol Cancer. 2017. PMID: 28231808 Free PMC article.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: klaas o. medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100. medRxiv. 2024. PMID: 38293053 Free PMC article. Preprint.