Exportierbare Liste wissenschaftlicher Publikationen

ZORA Publikationsliste

Publikationen

• VanSickle, E. A., Sarasua, S. M., Lowe, T., Farrell, C. L., Boccuto, L., Schwartz, C., Pegg, A. E., Peron, A., Faundes, V., Ganapathi, M., Chung, W. K., Ziegler, A., Hofstede, F., PROUTEAU, C., Steindl, K., Olson, C., Devinsky, O., Mastracci, T. L., Casero, R. A., … Bupp, C. P. (2025). Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review American Journal of Medical Genetics. Part A, Epub ahead of print. https://doi.org/10.1002/ajmga.70029
• Koparir, A., Kerkhof, J., Rzasa, J., Metzger, E.-M., Bahena Carbajal, P., Kolokotronis, K., Koparir, E., Jelting, Y., Hofrichter, M. A. H., Klepper, J., König, T., Runkel, E., Prastyo, W. E., Deinlein, J., Dragicevic Babic, N., Spiegler, J., Stachelscheid, N., Kunstmann, E., Haaf, T., … Klopocki, E. (2026). Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures Clinical Epigenetics, 18, 69. https://doi.org/10.1186/s13148-026-02120-1
• Williams, K. M., Berger, W., Koller, S., Pfiffner, F. K., Maspoli, A., Gloggnitzer, J., Brühwiler, B. V. T., Stathopoulos, C., Munier, F., Allen, L., Iosifidis, C., Black, G. C., Sergouniotis, P. I., Lloyd, I. C., & Gerth-Kahlert, C. (2026). The Phenotypic and Genotypic Features of $ADAMTSL4$ ‐Related Ocular Disease Clinical Genetics, 109, 730–741. https://doi.org/10.1111/cge.70109
• 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, 57, 156–159. https://doi.org/10.1055/a-2792-0936
• Serdiuk, T., Redeker, V., Savistchenko, J., Neupane, S., Hänseler, W. J., Fleischmann, Y., Reber, V., Keller, S., Tiberi, C., Bachmann-Gagescu, R., Gstaiger, M., Braun, T., Riek, R., Gentleman, S., Aguzzi, A., De Souza, N., Melki, R., & Picotti, P. (2026). Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies Molecular Systems Biology, Epub ahead of print. https://doi.org/10.1038/s44320-026-00199-5
• Shoman, Y., Leuenberger, L. M., Sommer, G., Bielicki, J. A., Brazzola, P., Della Valle, S., Diezi, M., Drozdov, D., Gumy-Pause, F., Guerreiro Stücklin, A. S., Kuehnel, U. M., Scheinemann, K., Schindera, C., Schilling, F., Waespe, N., Spycher, B. D., Schlapbach, L. J., Kuehni, C. E., Belle, F. N., & SwissPedHealth Consortium. (2026). Improving Registration and Dataflows Between Pediatric Oncology Clinics and the Childhood Cancer Registry of Switzerland: Protocol for SwissPedCancer Quality Assurance Study JMIR Research Protocols, 15, e87007. https://doi.org/10.2196/87007
• Chacon Millan, P., Delicato, A., Mahmood, A., Tirozzi, A., Monfregola, J., DUROURE, K., Serafini, M., Kroll, F., El-hage, O., Salah, S., Atawneh, O. N. M., Atik, T., Durmusalioglu, E. A., Isik, E., Almontashiri, N. A. M., TABARKI, B., Kanaan, M., Rabie, G., Torella, A., … et al. (2026). Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking American Journal of Human Genetics, 113, 562–581. https://doi.org/10.1016/j.ajhg.2026.01.008
• 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, 34, 340–347. https://doi.org/10.1038/s41431-025-02005-6
• 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
• Portmann, J. M., Martini, K., Bahr, A., Ritter, A., Wagner, C. A., & Seeger, H. (2026). A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the Gene Causing Hyperphosphatemic Tumoral Calcinosis Kidney Medicine, 8, 101241. https://doi.org/10.1016/j.xkme.2026.101241
• Kuzmanova, B., Kuzmanova, M. R., Elgizouli, M., Tatrai, B., & Möller, J. C. (2026). Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome BMJ Case Reports, 19, e267762. https://doi.org/10.1136/bcr-2025-267762
• 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
• 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, 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
• Zhang, G., Lu, Y., Xie, L., Begemann, A., Papuc, S. M., Zweier, M., Steindl, K., Rauch, A., Mayr, J. A., Koch, J., Feichtinger, R. G., Elmslie, F., Kulosik, L., Abou Jamra, R., Harmsen, S., Wang, S., He, M., Zhang, L., Zhou, W., … Zheng, B. (2025). De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies. Epilepsia, 67, 480–498. https://doi.org/10.1111/epi.18661