2025

ZORA Publication List

Publications

• 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
• Bou-rouphael Johnny, Cospain, A., Courtin, T., Keren, B., Marie, C., Lesieur-sebellin Marion, Delphine, H., De Sainte Agathe Jean-madeleine, Heide, S., Lejeune, E., Quelin, C., Lecoquierre, F., Nizon, M., Isidor, B., Besnard, T., Cogne, B., Latypova, X., Levy, J., Joset, P., … et al. (2025). Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders American Journal of Human Genetics, 112, 2605–2624. https://doi.org/10.1016/j.ajhg.2025.09.001
• 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
• Dana, F., Nilsson, J., Elgizouli, M., & Huellner, M. W. (2025). The Kabuki Syndrome in 18F-FDG-PET/CT Clinical Nuclear Medicine, 50, 1067–1068. https://doi.org/10.1097/rlu.0000000000005960
• 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
• Bachmann-Gagescu, R., & Sayer, J. (2025). Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies Journal of Cell Science, 138, jcs264177. https://doi.org/10.1242/jcs.264177
• 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
• Kaschta, D., Post, C., Gaass, F., Al-Tawil, M., Arriens, V., Balachandran, S., Bäumer, T., Berge, V., Birgel, F., Dalski, A., Dittmar, M., Franke, A., Franzenburg, S., Fuß, J., Gehring, B., Gembicki, R., Greiten, B., Grohte, K., Hanker, B., … et al. (2025). Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis Genome Medicine, 17, 100. https://doi.org/10.1186/s13073-025-01516-7
• 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
• 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. (2025). Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates Nature Biotechnology, online. https://doi.org/10.1038/s41587-025-02771-0
• Chavoshzadeh, Z., Fallah, S., Zeinali, V., Sharafian, S., Delavari, S., Mesdaghi, M., Djidjik, R., Belaid, B., Ikinciogullari, A., Haskologlu, S., Dogu, F., Genel, F., Gulez, N., Baris, S., Ozen, A., Karakoc-aydiner Elif, Kiykim, A., Meric, Z., Kutukculer, N., … et al. (2025). Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry Frontiers in Genetics, 16, 1584681. https://doi.org/10.3389/fgene.2025.1584681
• Delas, F., Gloggnitzer, J., Maspoli, A., Kurmann, L., Frueh, B. E., Dacheva, I., Hildebrand, G. D., Berger, W., & Gerth-kahlert Christina. (2025). Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance–Horan Syndrome Biomedicines, 13(8), 1883. https://doi.org/10.3390/biomedicines13081883
• Zech, M., Dzinovic, I., Škorvánek, M., Harrer, P., Necpál, J., Kopajtich, R., Kittke, V., Tilch, E., Zhao, C., Tsoma, E., Sorrentino, U., Indelicato, E., Stehr, A., Saparov, A., Abela, L., Adamovičová, M., Afenjar, A., Assmann, B., Baloghova, J., … et al. (2025). Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Brain : A Journal of Neurology, 148, 2827–2846. https://doi.org/10.1093/brain/awaf059
• Delas, F., Koller, S., Maggi, J., Maspoli, A., Kurmann, L., Lang, E., Berger, W., & Gerth-Kahlert, C. (2025). Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders International Journal of Molecular Sciences, 26, 6454. https://doi.org/10.3390/ijms26136454
• Pérez Baca, M. del R., Palomares-Bralo, M., Vanhooydonck, M., Hamerlinck, L., D’haene, E., Leimbacher, S., Jacobs, E. Z., De Cock, L., d’Haenens, E., Dheedene, A., Malfait, Z., Vantomme, L., Silva, A., Rooney, K., Zhao, X., Saeidian, A. H., Owen, N. M., Santos-Simarro, F., Lleuger-Pujol, R., … et al. (2025). Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder American Journal of Human Genetics, 112, 1388–1414. https://doi.org/10.1016/j.ajhg.2025.04.008
• Cheerie, D., Meserve, M. M., Beijer, D., Kaiwar, C., Newton, L., Taylor Tavares, A. L., Verran, A. S., Sherrill, E., Leonard, S., Sanders, S. J., Blake, E., Elkhateeb, N., Gandhi, A., Liang, N. S. Y., Morgan, J. T., Verwillow, A., Verheijen, J., Giles, A., Williams, S., … Lauffer, M. C. (2025). Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments American Journal of Human Genetics, 112, 975–983. https://doi.org/10.1016/j.ajhg.2025.02.017
• 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
• Schmidt, R. E., Pohodich, A. E., Birch, D., Jones, K., Lam, B. L., Jung, E. H., Jain, N., Georgiou, M., Mahroo, O. A., Webster, A. R., Michaelides, M., Bakall, B., Iannaccone, A., Vincent, A., Parameswarappa, D. C., Heon, E., Scholl, H. P. N., Janeschitz-Kriegl, L., Traboulsi, E. I., … et al. (2025). Variants in CFAP410 cause a range of retinal and skeletal phenotypes N p j Genomic Medicine, 10, 32. https://doi.org/10.1038/s41525-025-00489-1

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