List of articles ("Exportable")

Migration of ZORA to new software DSpace

On 08 September 2025, ZORA will be migrated to the new software.
Therefore, it is currently not possible to enter documents into ZORA.
The missing publications are expected to be available again from 10 September 2025.

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ZORA Publication List

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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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