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Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean-Marc; Strom, Stephen C (2019). A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. Journal of inherited metabolic diseases, 42(6), pp. 1054-1063. Wiley 10.1002/jimd.12067
Allegri, Gabriella; Deplazes, Sereina; Rimann, Nicole; Causton, Benjamin; Scherer, Tanja; Leff, Jonathan W; Diez-Fernandez, Carmen; Klimovskaia, Anna; Fingerhut, Ralph; Krijt, Jakub; Kožich, Viktor; Nuoffer, Jean-Marc; Grisch-Chan, Hiu M; Thöny, Beat; Häberle, Johannes (2019). Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. Journal of inherited metabolic diseases, 42(6), pp. 1064-1076. Wiley 10.1002/jimd.12068
Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
Adamsen, Dea; Ramaekers, Vincent; Ho, Horace Tb; Britschgi, Corinne; Rüfenacht, Véronique; Meili, David; Bobrowski, Elise; Philippe, Paule; Nava, Caroline; Van Maldergem, Lionel; Bruggmann, Rémy; Walitza, Susanne; Wang, Joanne; Grünblatt, Edna; Thöny, Beat (2014). Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Molecular autism, 5(43), p. 43. BioMed Central 10.1186/2040-2392-5-43
