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Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Among authors: roignant jy. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
Absolute Quantification of Noncoding RNA by Microscale Thermophoresis.
Jacob D, Thüring K, Galliot A, Marchand V, Galvanin A, Ciftci A, Scharmann K, Stock M, Roignant JY, Leidel SA, Motorin Y, Schaffrath R, Klassen R, Helm M. Jacob D, et al. Among authors: roignant jy. Angew Chem Int Ed Engl. 2019 Jul 8;58(28):9565-9569. doi: 10.1002/anie.201814377. Epub 2019 May 2. Angew Chem Int Ed Engl. 2019. PMID: 30892798 Free PMC article.
Mechanistic insights into m6A RNA enzymes.
Lence T, Paolantoni C, Worpenberg L, Roignant JY. Lence T, et al. Among authors: roignant jy. Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):222-229. doi: 10.1016/j.bbagrm.2018.10.014. Epub 2018 Nov 3. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 30395944 Review.
49 results