Publikationen 2026

ZORA Publikationsliste

Publikationen

• 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
• 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
• El Hayek, L., Gogate, A., Chen, W.-C., Kaur, K., Zaki, M. S., De Wachter, M., Van Schil, K., Dublin Ryan, L., Zamani, M., Bartos, M. N., Hiatt, S. M., Courdier, C., Michaud, V., Kenny, J., Day, M., Pang, L., Nasab, M. E., Madani Manshadi, S. A., Eslahi, A., … et al. (2026). Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder Human Genetics and Genomics Advances, 7, 100594. https://doi.org/10.1016/j.xhgg.2026.100594
• 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
• 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

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