Publications Prof. Dr. med. Anita Rauch

ZORA Publication List

Publications

• 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, 138, jcs264092. https://doi.org/10.1242/jcs.264092
• Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub Jean-marc, Schaeffer-reiss Christine, Marcelis, C., Koolen, D. A., Pfundt, R., De Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A., … et al. (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Journal of Clinical Investigation, 135, e182100. https://doi.org/10.1172/jci182100
• Figueiro-Silva, J., Eschment, M., Mennel, M., Abidi, A., Oneda, B., Rauch, A., & Bachmann-Gagescu, R. (2025). CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87, 103781. https://doi.org/10.1016/j.scr.2025.103781
• Pilz Robin A., Begemann, M., Pfister, S., Boonsawat, P., Rauch, A., Kurth, I., Felbor, U., & Rath, M. (2025). Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Neurogenetics, 26, 65. https://doi.org/10.1007/s10048-025-00847-2
• Schmid, C. M., Gregor, A., Ruiz, A., Manso Bazús, C., Herman, I., Ammouri, F., Kotzaeridou, U., McNiven, V., Dupuis, L., Steindl, K., Begemann, A., Rauch, A., Suter, A.-A., Isidor, B., Mercier, S., Nizon, M., Cogné, B., Deb, W., Besnard, T., … Zweier, C. (2025). Further delineation of the SCAF4-associated neurodevelopmental disorder European Journal of Human Genetics, 33, 588–594. https://doi.org/10.1038/s41431-024-01760-2
• Houdayer, C., Rooney, K., van der Laan, L., Bris, C., Alders, M., Bahr, A., Barcia, G., Battault, C., Begemann, A., Bonneau, D., Bonnevalle, A., Boughalem, A., Bourges, A., Bournez, M., Bruel, A.-L., Buhas, D., Carallis, F., Cogné, B., Cormier-Daire, V., … et al. (2025). ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature European Journal of Human Genetics, 33, 1422–1431. https://doi.org/10.1038/s41431-025-01798-w
• Bürger, O., Humbel, A., Ivanovski, I., Baumer, A., & Rauch, A. (2025). Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48 American Journal of Medical Genetics. Part A, 197, e63842. https://doi.org/10.1002/ajmg.a.63842
• Blackburn, P. R., Ebstein, F., Hsieh, T., 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. (2025). Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97, 76–89. https://doi.org/10.1002/ana.27077
• De Hayr, L., Blok, L. E. R., Dias, K.-R. M., Long, J., Begemann, A., Moir, R. D., Willis, I. M., Mocera, M., Siegel, G., Steindl, K., Evans, C.-A., Zhu, Y., Zhang, F., Field, M., Ma, A., Adès, L. C., Josephi-Taylor, S., Pfundt, R., Zaki, M. S., … et al. (2025). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Genetics in Medicine, 27, 101253. https://doi.org/10.1016/j.gim.2024.101253
• 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
• 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
• 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
• 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

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