Publications Prof. Dr. med. Anita Rauch

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
• 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
• 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
• 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
• 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
• Nashabat, M., Nabavizadeh, N., Saraçoğlu, H. P., Sarıbaş, B., Avcı, Ş., Börklü, E., Beillard, E., Yılmaz, E., Uygur, S. E., Kayhan, C. K., Bosco, L., Eren, Z. B., Steindl, K., Richter, M. F., Bademci, G., Rauch, A., Fattahi, Z., Valentino, M. L., Connolly, A. M., … et al. (2024). SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nature Communications, 15, 1758. https://doi.org/10.1038/s41467-024-45933-5
• Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Ghayoor Karimiani, E., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Rauch, A. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders Brain : A Journal of Neurology, 146, 5031–5043. https://doi.org/10.1093/brain/awad257
• Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I. J., den Hoed, J., de Boer, E., Coenen-van der Spek, J., Jansen, S., van Bon, B. W., Jonis, N., Ockeloen, C. W., Vulto-van Silfhout, A. T., Kleefstra, T., Koolen, D. A., … et al. (2023). PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Nature Genetics, 55, 1598–1607. https://doi.org/10.1038/s41588-023-01469-w
• Frey, T., Ivanovski, I., Bahr, A., Zweier, M., Laube, J., Luchsinger, I., Steindl, K., & Rauch, A. (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome American Journal of Medical Genetics. Part A, 191, 2074–2082. https://doi.org/10.1002/ajmg.a.63240
• 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
• Zanoni, P., Steindl, K., Sticht, H., Oneda, B., Joset, P., Ivanovski, I., Horn, A. H. C., Cabello, E. M., Laube, J., Zweier, M., Baumer Wolz, A., Rauch, A., & Khan, N. (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort European Journal of Human Genetics, 31, 784–792. https://doi.org/10.1038/s41431-023-01320-0
• 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
• Grether, A., Ivanovski, I., Russo, M., Begemann, A., Steindl, K., Abela, L., Papik, M., Zweier, M., Oneda, B., Joset, P., & Rauch, A. (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies Molecular Genetics & Genomic Medicine, 11, e2148. https://doi.org/10.1002/mgg3.2148
• Lecca, M., Pehlivan, D., Suñer, D. H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M. P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., … et al. (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage American Journal of Human Genetics, 110, 681–690. https://doi.org/10.1016/j.ajhg.2023.03.005

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