Exportierbare Liste wissenschaftlicher Publikationen

ZORA Publikationsliste

Publikationen

• Müller, F. M., Neuser, S., Shrestha, G., Neupane, N. P., Götze, K. J., Brunetti-Pierri, N., Terrone, G., Reymond, A., van Gassen, K. L., Brilstra, E., Steindl, K., Begemann, A., Rauch, A., Rips, J., Fahham, D., Barakat, S., PATAT, O., Mortreux, J., Chau, M. H. K., … et al. (2026). Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila Biochemistry and Biophysics Reports, 45, 102375. https://doi.org/10.1016/j.bbrep.2025.102375
• Wohlgemuth, C. A., Gennari, A. G., Lo Biundo, S. P., Boltshauser, E., Prader, S., Steindl, K., Rüegger, A., & Ramantani, G. (2026). Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-Month-Old Girl: A Case Report Neuropediatrics, online, online. https://doi.org/10.1055/a-2792-0936
• Correa, F. de A., Habibi, I., Zhai, J., Adamo, M., Wang, Y., Boizot, A., Zouaghi, Y., Rauch, A., Pekic, S., Quinton, R., Bonomi, M., Cangiano, B., Dhillo, W. S., Fluck, C. E., Nemeth, A., Bouloux, P.-M., FERRARA, J.-M., Pignatelli, D., Halász, Z., … Pitteloud, N. (2026). Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-02005-6
• Anderson, E. N., Drukewitz, S. H., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O’Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., CHATRON, N., MONIN, P., Drunat, S., Vial, Y., Latypova, X., Levy, J., … Ivanovski, I. (2026). De novo variants in KDM2A cause a syndromic neurodevelopmental disorder American Journal of Human Genetics, 113(1), 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
• Uhrova Meszarosova, A., Galiart, E., Lassuthova, P., Kolokotronis, K., Seidl, B., Musilova, A., Peckova, A., Takacsova, A., Vyhnalkova, E., Grecmalova, D., Vlckova, E., Skutilova, V., Steindl, K., Rauch, A., Stettner, G. M., & Safka Brozkova, D. (2026). Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality Frontiers in Medicine, 12, 1704209. https://doi.org/10.3389/fmed.2025.1704209