Institute of Molecular and Clinical Ophthalmology Basel

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Kaminska, K. et al. (2025) ‘Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy’, The American Journal of Human Genetics [Preprint]. Available at: https://doi.org/10.1016/j.ajhg.2025.02.015.

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Futterknecht, Stefan et al. (2025) ‘Targeted Microperimetry Grids for Focal Lesions in Intermediate AMD: PINNACLE Study Report 7’, Investigative Ophthalmology & Visual Science, 66(2), p. 6. Available at: https://doi.org/10.1167/iovs.66.2.6.

Muller, Alissa et al. (2025) ‘High-efficiency base editing in the retina in primates and human tissues’, Nature Medicine, 31(2), pp. 490–501. Available at: https://doi.org/10.1038/s41591-024-03422-8.

Zabiegalov, O. et al. (2025) ‘Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors’, Cells, 14(4), p. 252. Available at: https://doi.org/10.3390/cells14040252.

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Quinodoz, M. et al. (2025) ‘De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa’. Cold Spring Harbor Laboratory. Available at: https://doi.org/10.1101/2025.01.06.24317169.

Muller, Alissa et al. (2025) ‘High-efficiency base editing in the retina in primates and human tissues’, Nature Medicine [Preprint]. Available at: https://doi.org/10.1038/s41591-024-03422-8.

Pfau, Kristina et al. (2025) ‘Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1’, Investigative Ophthalmology and Visual Science, 66. Available at: https://doi.org/10.1167/iovs.66.2.17.

Szabó, Viktória et al. (2025) ‘Insights into eye genetics and recent advances in ocular gene therapy’, Molecular and Cellular Probes, 79, p. 102008. Available at: https://doi.org/10.1016/j.mcp.2025.102008.

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Fröhlich, Jacqueline et al. (2024) ‘Factors Associated With Ocular Perfusion Measurements as Obtained With Laser Speckle Contrast Imaging’, Translational Vision Science and Technology, 13(11). Available at: https://doi.org/10.1167/tvst.13.11.8.

Prétot, Dominique et al. (2024) ‘Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa’, Graefe’s Archive for Clinical and Experimental Ophthalmology [Preprint]. Available at: https://doi.org/10.1007/s00417-024-06659-8.

Fellmann, F. et al. (2024) ‘An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants’, JCI Insight, 9(17). Available at: https://doi.org/10.1172/jci.insight.172475.

Müllner, Fiona E. and Roska, Botond (2024) ‘Individual thalamic inhibitory interneurons are functionally specialized toward distinct visual features’, Neuron, 112(16), pp. 2765–2782.e9. Available at: https://doi.org/10.1016/j.neuron.2024.06.001.

Calzetti, G. et al. (2024) ‘Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute’, Ophthalmic Research, 67(1), pp. 448–457. Available at: https://doi.org/10.1159/000540607.

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Valmaggia, Philippe et al. (2024) ‘Heart-retina time analysis using electrocardiogram-coupled time-resolved dynamic optical coherence tomography’, medRxiv [Preprint]. Cold Spring Harbor Laboratory (medRxiv). Available at: https://doi.org/10.1101/2024.07.15.24310387.

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Cortinhal, T. et al. (2024) ‘Genetic profile of syndromic retinitis pigmentosa in Portugal’, Graefe’s Archive for Clinical and Experimental Ophthalmology, 262(6), pp. 1883–1897. Available at: https://doi.org/10.1007/s00417-023-06360-2.

Han, Ji Hoon et al. (2024) ‘Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration’, Genetics in Medicine, 26(6). Available at: https://doi.org/10.1016/j.gim.2024.101106.

Valmaggia, Philippe et al. (2024) ‘Time-Resolved Dynamic Optical Coherence Tomography for Retinal Blood Flow Analysis’, Investigative Ophthalmology and Visual Science, 65(6). Available at: https://doi.org/10.1167/iovs.65.6.9.

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Quinodoz, Mathieu et al. (2024) ‘Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads’, American Journal of Human Genetics. 25.03.2024, 111(4), pp. 701–713. Available at: https://doi.org/10.1016/j.ajhg.2024.03.001.

Quinodoz, Mathieu et al. (2024) ‘Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads’, American Journal of Human Genetics, 111(4), pp. 701–713. Available at: https://doi.org/10.1016/j.ajhg.2024.03.001.

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Nunes, M.J. et al. (2024) ‘Sustained PGC-1α2 or PGC-1α3 expression induces astrocyte dysfunction and degeneration’, European Journal of Cell Biology, 103(1), p. 151377. Available at: https://doi.org/10.1016/j.ejcb.2023.151377.

Zhang, Z. et al. (2024) ‘Centriole and transition zone structures in photoreceptor cilia revealed by cryo-electron tomography’, Life Science Alliance, 7(3). Available at: https://doi.org/10.26508/lsa.202302409.

Bauwens, Miriam et al. (2024) ‘Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction’, American Journal of Human Genetics, 111(2), pp. 393–402. Available at: https://doi.org/10.1016/j.ajhg.2024.01.001.

Lang, Stefan J. et al. (2024) ‘ZEISS PLEX Elite 9000 Widefield Optical Coherence Tomography Angiography as Screening Method for Early Detection of Retinal Hemangioblastomas in von Hippel–Lindau Disease’, Translational Vision Science and Technology, 13(2), p. 8. Available at: https://doi.org/10.1167/tvst.13.2.8.

Maloca, Peter M. et al. (2024) ‘Human selection bias drives the linear nature of the more ground truth effect in explainable deep learning optical coherence tomography image segmentation’, Journal of Biophotonics, 17(2). Available at: https://doi.org/10.1002/jbio.202300274.

Iglesias-Romero, Ana Belén et al. (2024) ‘Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa’, American Journal of Human Genetics, 111, pp. 2299–2306. Available at: https://doi.org/10.1016/j.ajhg.2024.08.005.

Karali, Marianthi et al. (2024) ‘Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss’, European Journal of Human Genetics [Preprint]. Available at: https://doi.org/10.1038/s41431-024-01768-8.

Malka, Samantha et al. (2024) ‘Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression’, American Journal of Human Genetics, 111, pp. 2012–2030. Available at: https://doi.org/10.1016/j.ajhg.2024.07.020.

Zanetti, Andrea et al. (2024) ‘GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment’, Nature Communications, 15. Available at: https://doi.org/10.1038/s41467-024-54549-8.

Conti, G.M. et al. (2023) ‘Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland’, Ophthalmic Research, 67(1), pp. 172–182. Available at: https://doi.org/10.1159/000536036.

Denk, Nora et al. (2023) ‘Cynomolgus monkey’s retina volume reference database based on hybrid deep learning optical coherence tomography segmentation’, Scientific Reports, 13(1). Available at: https://doi.org/10.1038/s41598-023-32739-6.

Maloca, Peter M. et al. (2023) ‘Validation of collaborative cyberspace virtual reality oculometry enhanced with near real-time spatial audio’, Scientific Reports, 13(1). Available at: https://doi.org/10.1038/s41598-023-37267-x.

Wahle, Philipp et al. (2023) ‘Multimodal spatiotemporal phenotyping of human retinal organoid development’, Nature Biotechnology, 41(12), pp. 1765–1775. Available at: https://doi.org/10.1038/s41587-023-01747-2.

Ansari, Georg et al. (2023) ‘The Optical Coherence Tomography and Microperimetry Biomarker Evaluation in Patients with Geographic Atrophy (OMEGA) Study: Design and Baseline Characteristics - OMEGA Report 1’, Ophthalmic Research, 66(1), pp. 1392–1401. Available at: https://doi.org/10.1159/000535375.

Han, Ji Hoon et al. (2023) ‘The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes’, Ophthalmic Research, 67(1), pp. 107–114. Available at: https://doi.org/10.1159/000535545.

Bjerager, Jakob et al. (2023) ‘Laser-Induced Chorioretinal Anastomosis in Neurofibromatosis Type 1’, JAMA Ophthalmology, 141(11), pp. 1083–1085. Available at: https://doi.org/10.1001/jamaophthalmol.2023.4215.

Valmaggia, P. et al. (2023) Time-resolved dynamic optical coherence tomography for retinal blood flow analysis. Cold Spring Harbor Laboratory. Available at: https://doi.org/10.1101/2023.10.31.23297800.

Grosso, Andrea et al. (2023) ‘A Unique Presentation of Bilateral Chorioretinal Atrophy’, Asia-Pacific Journal of Ophthalmology, 12(5), pp. 500–501. Available at: https://doi.org/10.1097/APO.0000000000000563.

Cheng YM et al. (2023) ‘Retinal organoid and gene editing for basic and translational research’, Vision Research, 210, p. 108273. Available at: https://doi.org/10.1016/j.visres.2023.108273.

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Hangartner K et al. (2023) ‘Assessment of Retinal Vessel Tortuosity Index in Patients with Fabry Disease Using Optical Coherence Tomography Angiography (OCTA)’, Diagnostics, 13(15). Available at: https://doi.org/10.3390/diagnostics13152496.

Cadoni, Sara et al. (2023) ‘Ectopic expression of a mechanosensitive channel confers spatiotemporal resolution to ultrasound stimulations of neurons for visual restoration’, Nature Nanotechnology, 18(6), pp. 667–676. Available at: https://doi.org/10.1038/s41565-023-01359-6.

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Ullah, Mukhtar et al. (2023) ‘A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing’, Ophthalmic Research, 66(1), pp. 878–884. Available at: https://doi.org/10.1159/000530800.

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Moreno-Juan, V. et al. (2023) ‘Spontaneous Thalamic Activity Modulates the Cortical Innervation of the Primary Visual Nucleus of the Thalamus’, Neuroscience, 508, pp. 87–97. Available at: https://doi.org/10.1016/j.neuroscience.2022.07.022.

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Maloca PM et al. (2022) ‘Reference database of total retinal vessel surface area derived from volume-rendered optical coherence tomography angiography’, Scientific Reports, 12(1), p. 3695. Available at: https://doi.org/10.1038/s41598-022-07439-2.

Maloca PM et al. (2022) ‘Cynomolgus monkey’s choroid reference database derived from hybrid deep learning optical coherence tomography segmentation’, Scientific Reports, 12(1), p. 13276. Available at: https://doi.org/10.1038/s41598-022-17699-7.

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Valmaggia, Philippe et al. (2022) ‘Iris Color Matters—A Contractility Analysis With Dynamic Volume-Rendered Optical Coherence Tomography Pupillometry’, Translational Vision Science and Technology, 11(11). Available at: https://doi.org/10.1167/tvst.11.11.6.

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Valmaggia P et al. (2022) ‘Feasibility of Automated Segmentation of Pigmented Choroidal Lesions in OCT Data With Deep Learning’, Translational Vision Science and Technology, 11(9), p. 25. Available at: https://doi.org/10.1167/tvst.11.9.25.

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Spaide RF, Valmaggia P and Maloca PM (2022) ‘IMAGING the VITREOUS with A NOVEL BOOSTED OPTICAL COHERENCE TOMOGRAPHY TECHNIQUE: Posterior Vitreous Detachment’, Retina, 42(8), pp. 1425–1432. Available at: https://doi.org/10.1097/IAE.0000000000003500.

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