Publications 2025

ZORA Publication List

Publications

• Dana, F., Nilsson, J., Elgizouli, M., & Huellner, M. W. (2025). The Kabuki Syndrome in 18F-FDG-PET/CT Clinical Nuclear Medicine, 50, 1067–1068. https://doi.org/10.1097/rlu.0000000000005960
• 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, online. https://doi.org/10.1111/epi.18661
• 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, jcs.264092, online. https://doi.org/10.1242/jcs.264092
• Kaschta, D., Post, C., Gaass, F., Al-Tawil, M., Arriens, V., Balachandran, S., Bäumer, T., Berge, V., Birgel, F., Dalski, A., Dittmar, M., Franke, A., Franzenburg, S., Fuß, J., Gehring, B., Gembicki, R., Greiten, B., Grohte, K., Hanker, B., … et al. (2025). Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis Genome Medicine, 17, 100. https://doi.org/10.1186/s13073-025-01516-7
• Figueiro-Silva, Joana; Eschment, Melanie; Mennel, Michelle; Abidi, Affef; Oneda, Beatrice; Rauch, Anita; Bachmann-Gagescu, Ruxandra (2025). CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87:103781.
• Erkut, E., Somerville, C., Schwartz, M. L. B., McDonald, L., Ding, Q., Moran, O. M., Chen, X., et al. (2025). A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B American Journal of Human Genetics, 112, 1–18. doi:10.1016/j.ajhg.2025.09.008
• Pilz Robin A., Begemann, M., Pfister, S., Boonsawat, P., Rauch, A., Kurth, I., Felbor, U., et al. (2025). Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Neurogenetics, 26, 65. doi:10.1007/s10048-025-00847-2
• 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
• Chavoshzadeh, Z., Fallah, S., Zeinali, V., Sharafian, S., Delavari, S., Mesdaghi, M., Djidjik, R., et al. (2025). Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry Frontiers in Genetics, 16, 1584681. doi:10.3389/fgene.2025.1584681
• Delas, F., Gloggnitzer, J., Maspoli, A., Kurmann, L., Frueh, B. E., Dacheva, I., Hildebrand, G. D., et al. (2025). Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance–Horan Syndrome Biomedicines, 13(8), 1883. doi:10.3390/biomedicines13081883
• Zech, Michael; Dzinovic, Ivana; Škorvánek, Matej; Harrer, Philip; Necpál, Ján; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovičová, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogné, Benjamin; Colangelo, Isabel; Distelmaier, Felix; Hackenberg, Annette; Kolokotronis, Konstantinos; Toelle, Sandra P; et al (2025). Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Brain : a Journal of Neurology, 148(8):2827-2846.
• Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders International Journal of Molecular Sciences, 26(13):6454.
• Pérez Baca, María del Rocío; Palomares-Bralo, María; Vanhooydonck, Michiel; Hamerlinck, Lisa; D’haene, Eva; Leimbacher, Sebastian; Jacobs, Eva Z; De Cock, Laurenz; d’Haenens, Erika; Dheedene, Annelies; Malfait, Zoë; Vantomme, Lies; Silva, Ananilia; Rooney, Kathleen; Zhao, Xiaonan; Saeidian, Amir Hossein; Owen, Nichole Marie; Santos-Simarro, Fernando; Lleuger-Pujol, Roser; García-Miñaúr, Sixto; Losantos-García, Itsaso; Menten, Björn; Gestri, Gaia; Ragge, Nicola; Steindl, Katharina; Kolokotronis, Konstantinos; Zanoni, Paolo; et al (2025). Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder American Journal of Human Genetics, 112(6):1388-1414.
• Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S Y; Morgan, Jack T; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C (2025). Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments American Journal of Human Genetics, 112(5):975-983.
• Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tumer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane (2025). Further delineation of the SCAF4-associated neurodevelopmental disorder European Journal of Human Genetics, 33(5):588-594.
• Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; et al (2025). Variants in CFAP410 cause a range of retinal and skeletal phenotypes n p j Genomic Medicine, 10(1):32.
• Haenseler, Walther; Eschment, Melanie; Evans, Beth; Brasili, Marta; Figueiro-Silva, Joana; Roethlisberger, Fee; Abidi, Affef; Jackson, Darcie; Müller, Martin; Cowley, Sally A; Bachmann-Gagescu, Ruxandra (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.
• Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (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(3):175-184.
• Schuknecht, Angelika; Wachtl, Josephine; Baumer, Alessandra; Kniestedt, Christoph (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(04):332-338.
• Maggi, Kevin . Investigating the Role of Norrin in Neuroretinal Development 2025, University of Zurich, Faculty of Science.

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