List of articles ("Exportable")
Migration of ZORA to new software DSpace
On 08 September 2025, ZORA will be migrated to the new software.
Therefore, it is currently not possible to enter documents into ZORA.
The missing publications are expected to be available again from 10 September 2025.
You can download these publications in the following formats:
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Select the desired format from the "format" drop-down menu and then click on the "download" button
ZORA Publication List
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Publications
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The Kabuki Syndrome in 18F-FDG-PET/CT Clinical Nuclear Medicine, 50, 1067–1068. https://doi.org/10.1097/rlu.0000000000005960
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De novo missense variants in
BAIAP2 are associated with developmental and epileptic encephalopathies. Epilepsia, online. https://doi.org/10.1111/epi.18661 -
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
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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
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CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87:103781.
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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. doi:10.1016/j.ajhg.2025.09.008
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Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Neurogenetics, 26, 65. doi:10.1007/s10048-025-00847-2
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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
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Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry Frontiers in Genetics, 16, 1584681. doi:10.3389/fgene.2025.1584681
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Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance–Horan Syndrome Biomedicines, 13(8), 1883. doi:10.3390/biomedicines13081883
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Brain : a Journal of Neurology, 148(8):2827-2846.
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Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders International Journal of Molecular Sciences, 26(13):6454.
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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder American Journal of Human Genetics, 112(6):1388-1414.
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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments American Journal of Human Genetics, 112(5):975-983.
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Further delineation of the SCAF4-associated neurodevelopmental disorder European Journal of Human Genetics, 33(5):588-594.
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Variants in CFAP410 cause a range of retinal and skeletal phenotypes n p j Genomic Medicine, 10(1):32.
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Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols Frontiers in Cell and Developmental Biology, 13:1516596.
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19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree Klinische Monatsblätter für Augenheilkunde, 242(04):332-338.
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Investigating the Role of Norrin in Neuroretinal Development 2025, University of Zurich, Faculty of Science.