2025

ZORA Publication List

Publications

• Haenseler, W., Eschment, M., Evans, B., Brasili, M., Figueiro-Silva, J., Roethlisberger, F., Abidi, A., Jackson, D., Müller, M., Cowley, S. A., & Bachmann-Gagescu, R. (2025). Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols Frontiers in Cell and Developmental Biology, 13, 1516596. https://doi.org/10.3389/fcell.2025.1516596
• Foa, N., Pfau, M., Ansari, G., Cancian, G., Grimaldi, G., Koller, S., Berger, W., Escher, P., Janeschitz-Kriegl, L., Rivolta, C., Scholl, H. P. N., & Menghini, M. (2025). Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype Ophthalmologica, 248, 175–184. https://doi.org/10.1159/000545606
• Schuknecht, A., Wachtl, J., Baumer, A., & Kniestedt, C. (2025). 19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree Klinische Monatsblätter Für Augenheilkunde, 242, 332–338. https://doi.org/10.1055/a-2498-0245
• Maggi, K. (2025). Investigating the Role of Norrin in Neuroretinal Development (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-276556
• Houdayer, C., Rooney, K., van der Laan, L., Bris, C., Alders, M., Bahr, A., Barcia, G., Battault, C., Begemann, A., Bonneau, D., Bonnevalle, A., Boughalem, A., Bourges, A., Bournez, M., Bruel, A.-L., Buhas, D., Carallis, F., Cogné, B., Cormier-Daire, V., … et al. (2025). ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature European Journal of Human Genetics, 33, 1422–1431. https://doi.org/10.1038/s41431-025-01798-w
• Yusifov, E., Schaettin, M., Dumoulin, A., Bachmann-Gagescu, R., & Stoeckli, E. T. (2025). The primary cilium gene CPLANE1 is required for peripheral nervous system development Developmental Biology, 519, 106–121. https://doi.org/10.1016/j.ydbio.2024.12.008
• Scaccini, S., Cesaroni, C. A., Caraffi, S. G., Rizzi, S., Rosato, S., Peluso, F., Spagnoli, C., Cavalli, A., Brugnoli, C., Scandolo, G., Pantani, A., Ivanovski, I., Garavelli, L., Frattini, D., & Fusco, C. (2025). Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP Neurogenetics, 26, 32. https://doi.org/10.1007/s10048-025-00815-w
• Zjacic, N. (2025). Towards a Prenatal Diagnostic Pipeline for Variants of Unknown Significance in Noonan Syndrome Genes (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-270768
• Zeckanovic, A., Scheidegger, N., Prader, S., Thanikkel, L., Elgizouli, M., & Bodmer, N. (2025). Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels Pediatric Blood & Cancer, 72, e31461. https://doi.org/10.1002/pbc.31461
• Bürger, O., Humbel, A., Ivanovski, I., Baumer, A., & Rauch, A. (2025). Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48 American Journal of Medical Genetics. Part A, 197, e63842. https://doi.org/10.1002/ajmg.a.63842
• Blackburn, P. R., Ebstein, F., Hsieh, T., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gérard, B., Smol, T., Vincent‐Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A., … et al. (2025). Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97, 76–89. https://doi.org/10.1002/ana.27077
• De Hayr, L., Blok, L. E. R., Dias, K.-R. M., Long, J., Begemann, A., Moir, R. D., Willis, I. M., Mocera, M., Siegel, G., Steindl, K., Evans, C.-A., Zhu, Y., Zhang, F., Field, M., Ma, A., Adès, L. C., Josephi-Taylor, S., Pfundt, R., Zaki, M. S., … et al. (2025). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Genetics in Medicine, 27, 101253. https://doi.org/10.1016/j.gim.2024.101253
• Nicoletti, T., Elgizouli, M., Warnatz, K., Roth, P., & Reimann, R. (2025). Cerebral inflammation in a patient with Kabuki syndrome Acta Neurologica Belgica, 125, 1733–1736. https://doi.org/10.1007/s13760-024-02700-z

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