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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: lohmeier k. 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.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. Kremer LS, et al. Among authors: lohmeier k. Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616477 Free PMC article.
Outbreak of severe community-acquired bacterial infections among children in North Rhine-Westphalia (Germany), October to December 2022.
Goretzki SC, van der Linden M, Itzek A, Hühne T, Adelmann RO, Ala Eldin F, Albarouni M, Becker JC, Berghäuser MA, Boesing T, Boeswald M, Brasche M, Brevis Nuñez F, Camara R, Deibert C, Dohle F, Dolgner J, Dziobaka J, Eifinger F, Elting N, Endmann M, Engelmann G, Frenzke H, Gappa M, Gharavi B, Goletz C, Hahn E, Heidenreich Y, Heimann K, Hensel KO, Hoffmann HG, Hoppenz M, Horneff G, Klassen H, Koerner-Rettberg C, Längler A, Lenz P, Lohmeier K, Müller A, Niemann F, Paulussen M, Pentek F, Perez R, Pingel M, Repges P, Rothoeft T, Rübo J, Schade H, Schmitz R, Schonhoff P, Schwade JN, Schwarz T, Seiffert P, Selzer G, Spille U, Thiel C, Thimm A, Urgatz B, van den Heuvel A, van Hop T, Giesen V, Wirth S, Wollbrink T, Wüller D, Felderhoff-Müser U, Dohna-Schwake C, Lâm TT, Claus H, Bruns N. Goretzki SC, et al. Among authors: lohmeier k. Infection. 2024 Jun;52(3):1099-1111. doi: 10.1007/s15010-023-02165-x. Epub 2024 Feb 16. Infection. 2024. PMID: 38366304 Free PMC article.