List of articles ("Exportable")

ZORA Publication List

Publications

• VanSickle, E. A., Sarasua, S. M., Lowe, T., Farrell, C. L., Boccuto, L., Schwartz, C., Pegg, A. E., Peron, A., Faundes, V., Ganapathi, M., Chung, W. K., Ziegler, A., Hofstede, F., PROUTEAU, C., Steindl, K., Olson, C., Devinsky, O., Mastracci, T. L., Casero, R. A., … Bupp, C. P. (2025). Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review American Journal of Medical Genetics. Part A, online. https://doi.org/10.1002/ajmga.70029
• 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), online. https://doi.org/10.1038/s41467-025-65556-8
• Williams, K. M., Berger, W., Koller, S., Pfiffner, F. K., Maspoli, A., Gloggnitzer, J., Brühwiler, B. V. T., Stathopoulos, C., Munier, F., Allen, L., Iosifidis, C., Black, G. C., Sergouniotis, P. I., Lloyd, I. C., & Gerth-kahlert Christina. (2025). The Phenotypic and Genotypic Features of $ADAMTSL4$ ‐Related Ocular Disease Clinical Genetics. https://doi.org/10.1111/cge.70109
• 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(11), 2605–2624. https://doi.org/10.1016/j.ajhg.2025.09.001
• 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
• 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, 1–18. 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(11), 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, jcs.264092, online. https://doi.org/10.1242/jcs.264092
• Bachmann-Gagescu, R., & Sayer, J. A. (2025). Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies Journal of Cell Science, 138(20), jcs264177. https://doi.org/10.1242/jcs.264177
• 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, 182100, e182100. https://doi.org/10.1172/jci182100
• Figueiro-Silva, Joana; Eschment, Melanie; Mennel, Michelle; Abidi, Affef; Oneda, Beatrice; Rauch, Anita; Bachmann-Gagescu, Ruxandra (2025). CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87:103781.
• 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, Michael; Dzinovic, Ivana; Škorvánek, Matej; Harrer, Philip; Necpál, Ján; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovičová, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogné, Benjamin; Colangelo, Isabel; Distelmaier, Felix; Hackenberg, Annette; Kolokotronis, Konstantinos; Toelle, Sandra P; et al (2025). Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Brain : a Journal of Neurology, 148(8):2827-2846.
• Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders International Journal of Molecular Sciences, 26(13):6454.
• Pérez Baca, María del Rocío; Palomares-Bralo, María; Vanhooydonck, Michiel; Hamerlinck, Lisa; D’haene, Eva; Leimbacher, Sebastian; Jacobs, Eva Z; De Cock, Laurenz; d’Haenens, Erika; Dheedene, Annelies; Malfait, Zoë; Vantomme, Lies; Silva, Ananilia; Rooney, Kathleen; Zhao, Xiaonan; Saeidian, Amir Hossein; Owen, Nichole Marie; Santos-Simarro, Fernando; Lleuger-Pujol, Roser; García-Miñaúr, Sixto; Losantos-García, Itsaso; Menten, Björn; Gestri, Gaia; Ragge, Nicola; Steindl, Katharina; Kolokotronis, Konstantinos; Zanoni, Paolo; et al (2025). Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder American Journal of Human Genetics, 112(6):1388-1414.

Pagination