Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Münch, J., Petrovska, J., Figueiro da Silva, J., Rubio-Aliaga, I., Cabello Ferrete, E., Ivanovski, I., Papik, M., Oneda, B., Fuster, D. G., Seeger, H., Ernandez, T., Buchkremer, F., Wuerzner, G., Dhayat, N. A., Ritter, A., Segerer, S., Roth, B., Rauch, A., Ferraro, P. M., … Bachmann-Gagescu, R. (2026). Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease Journal of Clinical Investigation, 136, e196277. https://doi.org/10.1172/jci196277
• Aarts, E. M., Laman Trip, D. S., Neatu, R., Martin, C. G., Riley, B., Kraus, A., Green, A., Al-Hamed, M. H., Armstrong, R. E., Sayer, J. A., Bachmann-Gagescu, R., & Beltrao, P. (2026). Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies Genome Biology, Epub ahead of print. https://doi.org/10.1186/s13059-025-03899-7
• Bachmann-Gagescu, R., & Sayer, J. (2025). Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies Journal of Cell Science, 138, jcs264177. https://doi.org/10.1242/jcs.264177
• Eschment, M., Mercey, O., Aarts, E. M., Perego, L., Figueiro da Silva, J., Mennel, M., Abidi, A., Generali, M., Rauch, A., Guichard, P., Hamel, V., & Bachmann-Gagescu, R. (2025). CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids Journal of Cell Science, 138, jcs264092. https://doi.org/10.1242/jcs.264092
• Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub Jean-marc, Schaeffer-reiss Christine, Marcelis, C., Koolen, D. A., Pfundt, R., De Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A., … et al. (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Journal of Clinical Investigation, 135, e182100. https://doi.org/10.1172/jci182100
• Figueiro-Silva, J., Eschment, M., Mennel, M., Abidi, A., Oneda, B., Rauch, A., & Bachmann-Gagescu, R. (2025). CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87, 103781. https://doi.org/10.1016/j.scr.2025.103781
• Naert, T., Yamamoto, T., Han, S., Röck, R., Horn, M., Bethge, P., Vladimirov, N., Voigt, F. F., Figueiro da Silva, J., Bachmann-gagescu Ruxandra, Vleminckx, K., Helmchen, F., & Lienkamp, S. S. (2025). Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates Nature Biotechnology, online. https://doi.org/10.1038/s41587-025-02771-0
• 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
• Ji, H. (2025). Characterisation of Developing Brain’s Morphology and White Matter Microstructure in Congenital Disorders: From the Thalamus to Whole Brain Structure (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-276566
• 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
• 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
• Noble, A. R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T. D. S., Özkoc, H., Greter, N. R., Phelps, I. G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., & Bachmann-Gagescu, R. (2024). Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system Biology Open, 13, bio060421. https://doi.org/10.1242/bio.060421
• Djebar, M., Anselme, I., Pezeron, G., Bardet, P.-L., Cantaut-Belarif, Y., Eschstruth, A., López-Santos, D., Le Ribeuz, H., Jenett, A., Khoury, H., Véziers, J., Parmentier, C., Hirschler, A., Carapito, C., Bachmann-Gagescu, R., Schneider-Maunoury, S., & Vesque, C. (2024). Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction ELife, 13, RP96831. https://doi.org/10.7554/elife.96831
• Maggi, J., Feil, S., Gloggnitzer, J., Maggi, K., Bachmann-Gagescu, R., Gerth-Kahlert, C., Koller, S., & Berger, W. (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes International Journal of Molecular Sciences, 25, 9569. https://doi.org/10.3390/ijms25179569
• Yusifov, E. (2024). Primary Cilia are Important for Neural Circuit Formation in the Peripheral Nervous System (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-262054
• Maggi, J., Koller, S., Feil, S., Bachmann-Gagescu, R., Gerth-Kahlert, C., & Berger, W. (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort International Journal of Molecular Sciences, 25, 6540. https://doi.org/10.3390/ijms25126540
• Münch, J., Silva, J. F., Cabello, E. M., Rubio-Aliaga, I., Fuster, D. G., Buchkremer, F., Wuerzner, G., Ritter, A., Roth, B., Bonny, O., Wagner, C. A., & Bachmann-Gagescu, R. (2023). Monogenic Disease Variants in the Swiss Kidney Stone Cohort and Stone-Free Controls: TH-PO460 Journal of the American Society of Nephrology (JASN), 34, 218–218. https://doi.org/10.1681/asn.20233411s1218a
• Vintschger, E., Kraemer, D., Joset, P., Horn, A. H. C., Rauch, A., Sticht, H., & Bachmann-Gagescu, R. (2023). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies European Journal of Human Genetics, 31, 953–961. https://doi.org/10.1038/s41431-022-01267-8
• Asadollahi, R., Delvendahl, I., Muff, R., Tan, G., Rodríguez, D. G., Turan, S., Russo, M., Oneda, B., Joset, P., Boonsawat, P., Masood, R., Mocera, M., Ivanovski, I., Baumer Wolz, A., Bachmann-Gagescu, R., Schlapbach, R., Rehrauer, H., Steindl, K., Begemann, A., … Rauch, A. (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons Human Molecular Genetics, 32, 2192–2204. https://doi.org/10.1093/hmg/ddad048
• Blackburn, P. R., Ebstein, F., Hsieh, T.-C., 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. (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder (No. 23290941; MedRxiv). https://doi.org/10.1101/2023.06.13.23290941

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