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 Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome Pediatric Neurology, 141:79-86.
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SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland medRxiv 22283790, Cold Spring Harbor Laboratory.
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Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment International Journal of Molecular Sciences, 23(13):7382.
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Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland Forensic Science International, 334:111240.
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Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE International Journal of Molecular Sciences, 23(6):3194.
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The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention Journal of Clinical Investigation Insight, 7(3):e148586.
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Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7 International Journal of Molecular Sciences, 23(3):1053.
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Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria Circulation: Genomic and Precision Medicine, 14(1):e003047.
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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract JAMA Ophthalmology, 139(7):691.
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Genotype-phenotype spectrum in isolated and syndromic nanophthalmos Acta Ophthalmologica, 99(4):e594-e607.
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CHM mutation spectrum and disease: An update at the time of human therapeutic trials Human Mutation, 42(4):323-341.
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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases International Journal of Molecular Sciences, 22(4):1508.
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The Genetic Basis of Eye Diseases: Identification and Functional Characterization of Genes and Mutations 2021, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
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ATOH7 as molecular basis for optic nerve hypoplasia and other retinal diseases 2021, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
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Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India International Journal of Molecular Sciences, 21(24):9569.
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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes Translational vision science & technology, 9(7):47.
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Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep PLoS Biology, 18(5):e3000623.
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15/01/2026 ~BK