All publications
Disclaimer: on the specification of authors in ZORA
- In the below list, publications with fewer than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
- For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. An "et al" is created in the same step. If UZH authors are omitted as a result, they are added at the end, after "et al".
- For the complete list of authors in order of publication, please use the text file on this website or the original publication on ZORA.
ZORA Publikationsliste
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Publikationen
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The Phenotypic and Genotypic Features of $ADAMTSL4$ ‐Related Ocular Disease Clinical Genetics. https://doi.org/10.1111/cge.70109
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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
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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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Variants in CFAP410 cause a range of retinal and skeletal phenotypes n p j Genomic Medicine, 10(1):32.
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Investigating the Role of Norrin in Neuroretinal Development 2025, University of Zurich, Faculty of Science.
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Retinal Dystrophy Associated with Homozygous Variants in NRL Genes, 15(12):1594.
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Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease Proceedings of the National Academy of Sciences of the United States of America, 121(49):e2322124121.
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Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele Genes, 15(12):1503.
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Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes International Journal of Molecular Sciences, 25(17):9569.
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Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8 Thyroid, 34(7):931-941.
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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Journal of Personalized Medicine, 14(6):648.
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Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort International Journal of Molecular Sciences, 25(6540):6540.
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Rapid onset hydroxychloroquine toxicity Retinal Cases & Brief Reports, 18(3):351-354.
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Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract International Journal of Molecular Sciences, 24(23):16594.
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mRNA splicing is modulated by intronic microRNAs iScience, 26(10):107723.
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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease EMBO Molecular Medicine, 15(10):e17393.
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Human Genetics and Genomics Advances, 4(2):100181.
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15/01/2026 ~BK