List of articles ("Exportable")

ZORA Publication List

Publications

• Shi, Y., Silva, A., Debuy, C., Ghosh, S., McConkey, H., Schot, R., Deng, R., Nikoncuk, A., van Slegtenhorst, M., Hoefsloot, L. H., van Ham, T. J., Simpson, B. N., Miller, D., Pillai, N. R., Holder-Espinasse, M., Almoguera, B., Blanco-Kelly, F., Clowes, V., Yoon, G., … et al. (2026). Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET Genetics in Medicine, 28, 102637. https://doi.org/10.1016/j.gim.2026.102637
• Wu, J. (2026). Improving the Diagnostic Yield in Developmental and Epileptic Encephalopathy Patients by Integrating Genomic and Transcriptomic Analysis (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-435312
• Zhou, Y., Vutov, V., Ghosh, S., Meier-Abt, F., Pfammatter, S., Kummer, S., Gutwein, O., Yao, R. S. Y., Zenz, T., Gunzer, M., Lu, J., & Chen, J. (2026). Beyond Binning: Resolution-Preserving MS1 Pretraining for Clinical Proteomics Classification (No. 26). 1–10. https://doi.org/10.1145/3807503.3819478
• Singhal, P., Hsieh, T.-C., Ehmke, N., Bacchelli, E., Viggiano, M., Maestrini, E., Visconti, P., Posar, A., Scaduto, M. C., Vaisfeld, A., Ronspies, C., Burke, S., Rosmaninho-Salgado, J., Sá, J., Ribeiro, S., Shillington, A., Aggarwal, A., Dailey, C., Saunders, C., … et al. (2026). Further characterization of the BRSK2-associated neurodevelopmental disorder European Journal of Human Genetics, Epub ahead of print. https://doi.org/10.1038/s41431-026-02195-7
• Schmid, C., Dahms, M., Böhm, B., Liniger, Z., Farokhnia, A., Frischknecht, L., Nilsson, J., Rauch, A., & Elgizouli, M. (2026). Milder-than-expected phenotype in adult PNP deficiency BMJ Connections Clinical Genetics and Genomics, 3, e000094. https://doi.org/10.1136/bmjccgg-2026-000094
• Zjacic, N., Siegel, G., Sabatino, V., Mocera, M., Boonsawat, P., Krejci, P., Oneda, B., Ivanovski, I., Bahr, A., Horn, A., Sticht, H., Burkhardt, T., & Rauch, A. (2026). The utility of chorionic villus sample cells for functionally assessing Noonan syndrome variants Research Connections, 1, vmag103. https://doi.org/10.1093/rescon/vmag103
• Fluri, R., Coll-Tane, M., Brunet, T., Cogne, B., Conrad, S., Nizon, M., Nicita, F., Travaglini, L., Novelli, A., Glissmeyer, M., Peterson, A., Buchan, J. G., Serber, D., Meier, K., Gärtner, J., Diegmann, S., Pingault, V., Attie-Bitach, T., Courtin, T., … et al. (2026). De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms American Journal of Human Genetics, 113, 1543–1557. https://doi.org/10.1016/j.ajhg.2026.05.012
• Nijim, S., Kim, M., Denish, M., Gonzalez, M. V., Zinski, J., Rieubland, C., Braun, D., Ostergaard, E., Shillington, A., Faivre, L., Maraval, J., Garde, A., PHILIPPE, C., Tran-Mau-Them, F., Crunk, A., UCI GREGoR Site*, Hawley, M., Callewaert, B., Iascone, M., … et al. (2026). Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND) Genetics in Medicine, Epub ahead of print. https://doi.org/10.1016/j.gim.2026.102642
• Schmid, C., & Elgizouli, M. (2026). Meine Patientin ist überbeweglich - hat sie eine genetische Diagnose? Rheuma Schweiz, 18, 22–26.
• Noble, A. R., Doherty, D., Stoeckli, E., & Bachmann-Gagescu, R. (2026). Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings Journal of Neuroscience, 46, e1215252026. https://doi.org/10.1523/jneurosci.1215-25.2026
• Meng, Z., Kovacs, B., Yan, C., Hölscher, C., Zhazykbayeva, S., Jarkas, O., Zou, C., Cyganek, L., Zorio, E., Braza Boils, A., Pablo Ochoa, J., Rehbehn, N., Fan, X., Lei, X., Liu, R., Tong, S., Liu, F., Xue, Z., Bober, S. L., … et al. (2026). SLC4A3-related short QT syndrome assessed in human induced pluripotent stem cell-derived cardiomyocytes: mechanisms of ventricular arrhythmia and sudden cardiac death European Heart Journal, 47, 2982–2998. https://doi.org/10.1093/eurheartj/ehag068
• Koparir, A., Kerkhof, J., Rzasa, J., Metzger, E.-M., Carbajal, P. B., Kolokotronis, K., Koparir, E., Jelting, Y., Hofrichter, M. A. H., Klepper, J., König, T., Runkel, E., Prastyo, W. E., Deinlein, J., Babic, N. D., Spiegler, J., Stachelscheid, N., Kunstmann, E., Haaf, T., … Klopocki, E. (2026). Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures Clinical Epigenetics, 18, 115. https://doi.org/10.1186/s13148-026-02173-2
• 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. (2026). Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates Nature Biotechnology, 44, 1023–1036. https://doi.org/10.1038/s41587-025-02771-0
• 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. (2026). Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review American Journal of Medical Genetics. Part A, 200, 993–1003. 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
• Wohlgemuth, C. A., Gennari, A. G., Lo Biundo, S. P., Boltshauser, E., Prader, S., Steindl, K., Rüegger, A., & Ramantani, G. (2026). Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-Month-Old Girl: A Case Report Neuropediatrics, 57, 156–159. https://doi.org/10.1055/a-2792-0936
• 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, 22, 868–901. https://doi.org/10.1038/s44320-026-00199-5
• Shoman, Y., Leuenberger, L. M., Sommer, G., Bielicki, J. A., Brazzola, P., Della Valle, S., Diezi, M., Drozdov, D., Gumy-Pause, F., Guerreiro Stücklin, A. S., Kuehnel, U. M., Scheinemann, K., Schindera, C., Schilling, F., Waespe, N., Spycher, B. D., Schlapbach, L. J., Kuehni, C. E., Belle, F. N., & SwissPedHealth Consortium. (2026). Improving Registration and Dataflows Between Pediatric Oncology Clinics and the Childhood Cancer Registry of Switzerland: Protocol for SwissPedCancer Quality Assurance Study JMIR Research Protocols, 15, e87007. https://doi.org/10.2196/87007
• 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

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