Exportierbare Liste wissenschaftlicher Publikationen

ZORA Publikationsliste

Publikationen

• 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
• Tibbe, D., Kiel, C., Ielesicheva, O., Robles de Maruri, K., Mahboobi, H., Züghart, J., Hönck, H.-H., Meier, C., Biasella, F., Legue, M., Lopez Avaria, M. F., Blair, E., Lester, T., Banos-Pinero, B., Pulido, J. S., Schneider, A., Procopio, R., Quelin, C., Leal, B. J., … Kreienkamp, H.-J. (2026). The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome Genome Medicine, 18, 125. https://doi.org/10.1186/s13073-026-01745-4
• 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
• Cabello, E. M., Steindl, K., Ivanovski, I., Boonsawat, P., Zanoni, P., Papik, M., Bahr, A., Khan, N., & Rauch, A. (2026). Rare variant enrichment analysis in pediatric European Moyamoya Angiopathy patients unveils novel candidate susceptibility genes N p j Genomic Medicine, Epub ahead of print. https://doi.org/10.1038/s41525-026-00599-4
• 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
• Frey, T. (2026). Therapieentwicklung für seltene syndromale Entwicklungsstörungen am Beispiel Prader-Willi-Syndrom In B. Tag & M. Baumgartner (Eds.), Rare Diseases : Eine interdisziplinäre Betrachtung (pp. 147–155). EIZ Publishing. https://doi.org/10.36862/60rk-echk
• Frey, T., & Tölle, S. (2026). Genomic Newborn Screening – die Zukunft des Neugeborenenscreenings? In B. Tag & M. Baumgartner (Eds.), Rare Diseases : Eine interdisziplinäre Betrachtung (pp. 41–69). EIZ Publishing. https://doi.org/10.36862/60rk-echk
• Frey, T., Grand, V., Gugliotta, M., Link, B., Luperi, I., Tölle, S., Vogt, I., & Wälti, O. (2026). Rare Diseases : Eine interdisziplinäre Betrachtung (B. Tag & M. Baumgartner, Eds.). EIZ Publishing. https://doi.org/10.36862/60rk-echk
• Frey, T. (2026). Nationales Konzept Seltene Krankheiten In B. Tag & M. Baumgartner (Eds.), Rare Diseases : Eine interdisziplinäre Betrachtung (pp. 83–88). EIZ Publishing. https://doi.org/10.36862/60rk-echk
• 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

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