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ZORA Publication List

Publications

• Mozun, R., Belle, F. N., Agostini, A., Baumgartner, M. R., Fellay, J., Forrest, C. B., Froese, D. S., Giannoni, E., Goetze, S., Hofmann, K., Latzin, P., Lauener, R., Martin Necker, A., Ormond, K., Pachlopnik Schmid, J., Pedrioli, P. G. A., Posfay-Barbe, K. M., Rauch, A., Schulzke, S. M., … Kuehni, C. E. (2024). Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream BMJ Open, 14, e091884. https://doi.org/10.1136/bmjopen-2024-091884
• Maggi, J., Hanson, J. V. M., Kurmann, L., Koller, S., Feil, S., Gerth-Kahlert, C., & Berger, W. (2024). Retinal Dystrophy Associated with Homozygous Variants in NRL Genes, 15, 1594. https://doi.org/10.3390/genes15121594
• Rauch, A., & Reis, A. (2024). Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A Medizinische Genetik, 36, 275–276. https://doi.org/10.1515/medgen-2024-2055
• Uguen, K., Frey, T., Muthaffar, O., Décarie, J.-C., Ameziane, N., Boissel, S., Baradaran-Heravi, Y., Rauch, A., Oprea, G., Rad, A., Steindl, K., & Michaud, J. L. (2024). Loss of tissue-type plasminogen activator causes multiple developmental anomalies Brain Communications, 6, fcae408. https://doi.org/10.1093/braincomms/fcae408
• 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
• Soomann, M., Bily, V., Elgizouli, M., Kraemer, D., Akgül, G., von Bernuth, H., Bloomfield, M., Brodszki, N., Candotti, F., Förster-Waldl, E., Freiberger, T., Giżewska, M., Klocperk, A., Kölsch, U., Nichols, K. E., Krüger, R., Oak, N., Pac, M., Prader, S., … Trück, J. (2024). Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia Journal of Allergy and Clinical Immunology, 154, 1313-1324.e7. https://doi.org/10.1016/j.jaci.2024.08.002
• Alves, V. C., Carro, E., & Figueiro-Silva, J. (2024). Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies Neural Regeneration Research, 19, 2365–2376. https://doi.org/10.4103/1673-5374.393106
• 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
• Wood, K. A., Tong, R. S., Motta, M., Cordeddu, V., Scimone, E. R., Bush, S. J., Maxwell, D. W., Giannoulatou, E., Caputo, V., Traversa, A., Mancini, C., Ferrero, G. B., Benedicenti, F., Grammatico, P., Melis, D., Steindl, K., Brunetti-Pierri, N., Trevisson, E., Wilkie, A. O., … Goriely, A. (2024). SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline American Journal of Human Genetics, 111, 1953–1969. https://doi.org/10.1016/j.ajhg.2024.07.006
• 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
• Boonsawat, P., Asadollahi, R., Niedrist Baumann, D., Steindl, K., Begemann, A., Joset, P., Bhoj, E. J., Li, D., Zackai, E., Vetro, A., Barba, C., Guerrini, R., Whalen, S., Keren, B., Khan, A., Jing, D., Palomares Bralo, M., Rikeros Orozco, E., Hao, Q., … Rauch, A. (2024). Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling American Journal of Human Genetics, 111, 1994–2011. https://doi.org/10.1016/j.ajhg.2024.07.016
• Clara-Hwang, A., Stefani, S., Lau, T., Scala, M., Aynekin, B., Bernardo, P., Madia, F., Bakhtadze, S., Kaiyrzhanov, R., Maroofian, R., Zara, F., Srinivasan, V. M., Gowda, V., Guliyeva, U., Montavont, A., Poulat, A.-L., Güleç, A., Berger, C., Ville, D. M., … Efthymiou, S. (2024). Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Neurology Genetics, 10, e200168. https://doi.org/10.1212/nxg.0000000000200168
• Harel, T., Spicher, C., Scheer, E., Buchan, J. G., Cech, J., Folland, C., Frey, T., Holtz, A. M., Innes, A. M., Keren, B., Macken, W. L., Marcelis, C., Otten, C. E., Paolucci, S. A., Petit, F., Pfundt, R., Pitceathly, R. D. S., Rauch, A., Ravenscroft, G., … Tora, L. (2024). De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features Brain : A Journal of Neurology, 147, 2732–2744. https://doi.org/10.1093/brain/awae160
• Dubach, I. L. (2024). Unraveling Macrophage Polarization: Deciphering Heme Signaling Dynamics after Hemolysis for Precision Inflammation Modulation (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-261319
• Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Journal of Personalized Medicine, 14, 648. https://doi.org/10.3390/jpm14060648
• 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
• no authors listed. (2024). Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt Medizinische Genetik, 36, 133–133. https://doi.org/10.1515/medgen-2024-2015
• Kolokotronis, K., Suter, A.-A., Ivanovski, I., Frey, T., Bahr, A., Rauch, A., & Steindl, K. (2024). DPF2-related Coffin-Siris syndrome type 7 in two generations European Journal of Medical Genetics, 69, 104945. https://doi.org/10.1016/j.ejmg.2024.104945
• Meier-Abt, F., Kraemer, D., Braun, N., Reinehr, M., Stutz-Grunder, E., Steindl, K., & Rauch, A. (2024). Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor American Journal of Medical Genetics. Part A, 194, e63528. https://doi.org/10.1002/ajmg.a.63528
• Yang, F., Begemann, A., Reichhart, N., Haeckel, A., Steindl, K., Schellenberger, E., Sturm, R. F., Barth, M., Bassani, S., Boonsawat, P., Courtin, T., Delobel, B., Gunning, B., Hardies, K., Jennesson, M., Legoff, L., Linnankivi, T., Prouteau, C., Smal, N., … Rauch, A. (2024). Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect American Journal of Human Genetics, 111, 1184–1205. https://doi.org/10.1016/j.ajhg.2024.04.014

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