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
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
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
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