2024

ZORA Publication List

Publications

• Caraffi, S. G., van der Laan, L., Rooney, K., Trajkova, S., Zuntini, R., Relator, R., Haghshenas, S., Levy, M. A., Baldo, C., Mandrile, G., Lauzon, C., Cordelli, D. M., Ivanovski, I., Fetta, A., Sukarova, E., Brusco, A., Pavinato, L., Pullano, V., Zollino, M., … Garavelli, L. (2024). Identification of the DNA methylation signature of Mowat-Wilson syndrome European Journal of Human Genetics, 32, 619–629. https://doi.org/10.1038/s41431-024-01548-4
• Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Abou Jamra, R., Schlump, J.-U., DeMille, D., Bayrak-Toydemir, P., Nelson, G. R., Wong, K. N., Duncanson, L., Mosera, M., Gilissen, C., Vissers, L. E. L. M., … et al. (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles Genome Medicine, 16, 72. https://doi.org/10.1186/s13073-024-01339-y
• Holfeld, A., Schuster, D., Sesterhenn, F., Gillingham, A. K., Stalder, P., Haenseler, W., Barrio-Hernandez, I., Ghosh, D., Vowles, J., Cowley, S. A., Nagel, L., Khanppnavar, B., Serdiuk, T., Beltrao, P., Korkhov, V. M., Munro, S., Riek, R., de Souza, N., & Picotti, P. (2024). Systematic identification of structure-specific protein–protein interactions Molecular Systems Biology, 20, 651–675. https://doi.org/10.1038/s44320-024-00037-6
• Yde Ohki, C. M. (2024). Involvement of the Wnt Signaling in Methylphenidate (Ritalin) Treatment of ADHD (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-259346
• Spindler, J., Koller, S., Graf, U., Berger, W., Gerth-Kahlert, C., & Blaser, F. (2024). Macular Corneal Dystrophy - Molecular Genetics as the Key in Treatment-Refractory Keratopathy Klinische Monatsblätter Für Augenheilkunde, 241, 398–401. https://doi.org/10.1055/a-2219-8288
• Alves, V. C., Figueiro-Silva, J., Trullas, R., Ferrer, I., & Carro, E. (2024). Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease Genes, 15, 385. https://doi.org/10.3390/genes15030385
• Nashabat, M., Nabavizadeh, N., Saraçoğlu, H. P., Sarıbaş, B., Avcı, Ş., Börklü, E., Beillard, E., Yılmaz, E., Uygur, S. E., Kayhan, C. K., Bosco, L., Eren, Z. B., Steindl, K., Richter, M. F., Bademci, G., Rauch, A., Fattahi, Z., Valentino, M. L., Connolly, A. M., … et al. (2024). SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nature Communications, 15, 1758. https://doi.org/10.1038/s41467-024-45933-5
• Cabello Ferrete, E. M. (2024). Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-257321
• Brouwers, S., Heimgartner, R., Laptseva, N., Aguzzi, A., Ehl, N. F., Fehr, T., Hitz, F., Jung, H. H., Kälin, J., Manz, M. G., Müllhaupt, B., Ruschitzka, F., Seeger, H., Stussi, G., Zweier, M., Flammer, A. J., Gerber, B., & Schwotzer, R. (2024). Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry Swiss Medical Weekly, 154, 3485. https://doi.org/10.57187/s.3485
• Gokce-Samar, Z., Vetro, A., De Bellescize, J., Pisano, T., Monteiro, L., Penaud, N., Korff, C. M., Fluss, J., Marini, C., Cesaroni, E., Alvarez, B. M., Sanlaville, D., Chatron, N., Arzimanoglou, A. A., Labalme, A., Cuddapah, V. A., Ruggiero, S. M., Lecoquierre, F., Nicolas, G., … et al. (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder Neurology, 102, e207945. https://doi.org/10.1212/wnl.0000000000207945

Pagination