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Crowther, Lisa M; Poms, Martin; Zandl-Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara (2023). Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: relevance to pyridoxine-dependent epilepsy. Journal of inherited metabolic disease, 46(1), pp. 129-142. Wiley 10.1002/jimd.12569
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247
Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451
Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; ... (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics, 27(3), pp. 408-421. Nature Publishing Group 10.1038/s41431-018-0299-8
