Publications Prof. Dr. med. Anita Rauch

ZORA Publication List

Publications

• Chacon Millan, P., Delicato, A., Mahmood, A., Tirozzi, A., Monfregola, J., DUROURE, K., Serafini, M., Kroll, F., El-hage, O., Salah, S., Atawneh, O. N. M., Atik, T., Durmusalioglu, E. A., Isik, E., Almontashiri, N. A. M., TABARKI, B., Kanaan, M., Rabie, G., Torella, A., … et al. (2026). Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking American Journal of Human Genetics, 113, 562–581. https://doi.org/10.1016/j.ajhg.2026.01.008
• Correa, F. de A., Habibi, I., Zhai, J., Adamo, M., Wang, Y., Boizot, A., Zouaghi, Y., Rauch, A., Pekic, S., Quinton, R., Bonomi, M., Cangiano, B., Dhillo, W. S., Fluck, C. E., Nemeth, A., Bouloux, P.-M., FERRARA, J.-M., Pignatelli, D., Halász, Z., … Pitteloud, N. (2026). Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study European Journal of Human Genetics, 34, 340–347. https://doi.org/10.1038/s41431-025-02005-6
• Müller, F. M., Neuser, S., Shrestha, G., Neupane, N. P., Götze, K. J., Brunetti-Pierri, N., Terrone, G., Reymond, A., van Gassen, K. L., Brilstra, E., Steindl, K., Begemann, A., Rauch, A., Rips, J., Fahham, D., Barakat, S., PATAT, O., Mortreux, J., Chau, M. H. K., … et al. (2026). Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila Biochemistry and Biophysics Reports, 45, 102375. https://doi.org/10.1016/j.bbrep.2025.102375
• Uhrova Meszarosova, A., Galiart, E., Lassuthova, P., Kolokotronis, K., Seidl, B., Musilova, A., Peckova, A., Takacsova, A., Vyhnalkova, E., Grecmalova, D., Vlckova, E., Skutilova, V., Steindl, K., Rauch, A., Stettner, G. M., & Safka Brozkova, D. (2026). Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality Frontiers in Medicine, 12, 1704209. https://doi.org/10.3389/fmed.2025.1704209
• Anderson, E. N., Drukewitz, S. H., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O’Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., CHATRON, N., MONIN, P., Drunat, S., Vial, Y., Latypova, X., Levy, J., … Ivanovski, I. (2026). De novo variants in KDM2A cause a syndromic neurodevelopmental disorder American Journal of Human Genetics, 113, 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
• KÜRY, S., Stanton, J. E., van Woerden, G. M., BOSC-ROSATI, A., Hsieh, T.-C., BRAY, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M.-P., Most, V., Wang, T., Papendorf, J. J., De Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F. G., … Ivanovski, I. (2025). Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Nature Communications, 16, 10545. https://doi.org/10.1038/s41467-025-65556-8
• Erkut, E., Somerville, C., Schwartz, M. L. B., McDonald, L., Ding, Q., Moran, O. M., Chen, X., Manshaei, R., Riedijk, A.-S., Schnürer, M.-T., Koboldt, D. C., Antonarakis, S. E., Bedoukian, E. C., Blanc, X., Conlin, L. K., Cox, H., Diderich, K. E. M., Dingmann, B., Dubourg, C., … Jobling, R. K. (2025). A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B American Journal of Human Genetics, 112, 2625–2642. https://doi.org/10.1016/j.ajhg.2025.09.008
• Zhang, G., Lu, Y., Xie, L., Begemann, A., Papuc, S. M., Zweier, M., Steindl, K., Rauch, A., Mayr, J. A., Koch, J., Feichtinger, R. G., Elmslie, F., Kulosik, L., Abou Jamra, R., Harmsen, S., Wang, S., He, M., Zhang, L., Zhou, W., … Zheng, B. (2025). De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies. Epilepsia, online. https://doi.org/10.1111/epi.18661
• Asadollahi, R., Ahmad, A., Boonsawat, P., Hinzen, J., Lohse, M., Bouazza Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K., … Rauch, A. (2025). Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function Nature Genetics, 57, 2691–2704. https://doi.org/10.1038/s41588-025-02361-5
• 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

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