Institute of Molecular and Clinical Ophthalmology Basel

Lin, S. et al. (2026) ‘Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement’, The American Journal of Human Genetics [Preprint]. Available at: https://doi.org/10.1016/j.ajhg.2026.01.015.

Moye, A.R. et al. (2026) ‘Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy’, The American Journal of Human Genetics [Preprint]. Available at: https://doi.org/10.1016/j.ajhg.2026.02.001.

Sarrasin, Emerentienne et al. (2026) ‘Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas’, Investigative Ophthalmology and Visual Science, 67(1). Available at: https://doi.org/10.1167/iovs.67.1.59.

Ullah, Mukhtar et al. (2026) ‘Early-Onset Retinopathy in Patients with Variants in SLC6A6 Leading to Impaired Taurine Transport’, JAMA Ophthalmology, 144, pp. 70–78. Available at: https://doi.org/10.1001/jamaophthalmol.2025.4875.

Barboni, Mirella et al. (2026) ‘Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant’, Documenta Ophthalmologica [Preprint]. Available at: https://doi.org/10.1007/s10633-026-10084-z.

Quinodoz, Mathieu et al. (2026) ‘De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa’, Nature Genetics, 58, pp. 169–179. Available at: https://doi.org/10.1038/s41588-025-02451-4.

Sharma, K. et al. (2026) ‘Retinal ganglion cell survival and functional maturation in transiently vascularized human retinal organoids’, Cell Stem Cell [Preprint]. Available at: https://doi.org/10.1016/j.stem.2025.12.013.

Anders, Philipp et al. (2025) ‘Association of Localized Retinal Sensitivities with Spectral-Domain Optical Coherence Tomography-Derived Morphologic Data in Macular Subfields in Age-Related Macular Degeneration’, Ophthalmic Research, 68(1), pp. 389–399. Available at: https://doi.org/10.1159/000546990.

Fernández-Caballero, Lidia et al. (2025) ‘Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB’, Scientific Reports, 15. Available at: https://doi.org/10.1038/s41598-025-97768-9.

Ullah, Mukhtar et al. (2025) ‘A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort’, npj Genomic Medicine, 10. Available at: https://doi.org/10.1038/s41525-025-00488-2.

Valmaggia, Philippe et al. (2025) ‘Heart-retina time analysis using electrocardiogram-coupled time-resolved dynamic optical coherence tomography’, Scientific Reports. 02.01.2025, 15(1). Available at: https://doi.org/10.1038/s41598-024-84417-w.

Vuille-dit-Bille, Emilie et al. (2025) ‘PEGDA-based HistoBrick for increasing throughput of cryosectioning and immunohistochemistry in organoid and small tissue studies’, Scientific Reports. 02.01.2025, 15(1). Available at: https://doi.org/10.1038/s41598-024-83164-2.

Giger, Jason A.W. et al. (2025) ‘Measurement Reliability and Functional Validity of Bruch’s Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2’, Investigative Ophthalmology and Visual Science, 66. Available at: https://doi.org/10.1167/iovs.66.14.29.

Rivolta, Carlo et al. (2025) ‘RetiGene, a comprehensive gene atlas for inherited retinal diseases’, American Journal of Human Genetics, 112, pp. 2253–2265. Available at: https://doi.org/10.1016/j.ajhg.2025.08.017.

Moye, Abigail R. et al. (2025) ‘Sub-ciliary localization of cep290 and effects of its loss in mouse photoreceptors during development’, Journal of Cell Science, 138. Available at: https://doi.org/10.1242/jcs.263869.

George, Lisa M. et al. (2025) ‘Early-onset macular drusen, a monogenic form of age-related macular degeneration’, American Journal of Ophthalmology Case Reports, 39. Available at: https://doi.org/10.1016/j.ajoc.2025.102408.

Quinodoz, Mathieu et al. (2025) ‘Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese’, Journal of Medical Genetics, 62, pp. 573–580. Available at: https://doi.org/10.1136/jmg-2025-110775.

Ansari, Georg et al. (2025) ‘Evaluating the Progression of Retinal Sensitivity Loss in Geographic Atrophy Using Machine-Learning-Based Structure-Function Correlation (OMEGA 2)’, Investigative Ophthalmology and Visual Science, 66. Available at: https://doi.org/10.1167/iovs.66.11.34.

Foa, Nastasia et al. (2025) ‘Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs∗2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype’, Ophthalmologica, 248, pp. 175–184. Available at: https://doi.org/10.1159/000545606.

Nsiangani Lusambo, Nadine et al. (2025) ‘First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)’, Annals of Human Genetics, 89, pp. 141–148. Available at: https://doi.org/10.1111/ahg.12604.

Ehrenberg, Miriam et al. (2025) ‘Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy’, Genetics in Medicine, 27. Available at: https://doi.org/10.1016/j.gim.2025.101401.

Corral-Serrano, Julio C et al. (2025) ‘A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models’, Human Molecular Genetics, 34, pp. 821–834. Available at: https://doi.org/10.1093/hmg/ddaf029.

Santos, Elisa, Maloca, Peter M. and Kawasaki, Aki (2025) ‘Hyperreflective Dots (HRDs) in Two Patients with Nonarteritic Anterior Ischemic Optic Neuropathy (NAION)’, Klinische Monatsblatter fur Augenheilkunde, 242, pp. 471–474. Available at: https://doi.org/10.1055/a-2532-1032.

Kaminska, Karolina et al. (2025) ‘Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy’, American Journal of Human Genetics, 112, pp. 808–828. Available at: https://doi.org/10.1016/j.ajhg.2025.02.015.

Pfau, Kristina et al. (2025) ‘N-Acetylcystein (NAC) bei Retinitis pigmentosa’, Klinische Monatsblatter fur Augenheilkunde, 242(3), pp. 199–204. Available at: https://doi.org/10.1055/a-2525-4419.

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

Moekotte, Lude et al. (2025) ‘Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies’, Investigative Ophthalmology and Visual Science, 66. Available at: https://doi.org/10.1167/iovs.66.2.55.

Muller, Alissa et al. (2025) ‘High-efficiency base editing in the retina in primates and human tissues’, Nature Medicine, 31, pp. 490–501. 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.

Prétot, Dominique et al. (2025) ‘Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa’, Graefe’s Archive for Clinical and Experimental Ophthalmology, 263, pp. 379–385. Available at: https://doi.org/10.1007/s00417-024-06659-8.

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

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

Grobshäuser, Ellen et al. (2025) ‘Investigation of Endothelial Cell Density after PreserFlo Implantation Compared to Contralateral Eyes without PreserFlo Implantation-A Retrospective Analysis’, Klinische Monatsblatter fur Augenheilkunde, 242, pp. 392–397. Available at: https://doi.org/10.1055/a-2495-8580.

Quinodoz, Mathieu et al. (2025) ‘De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder’, EMBO Journal, 44, pp. 413–436. Available at: https://doi.org/10.1038/s44318-024-00322-y.

Celik, Elifnaz (2025) Molecular determinants of hereditary retinal degenerations by the analysis of genomic data. Doctoral Thesis. University of Basel.

Farooqui, Saadia Z. et al. (2025) ‘A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort’, Ophthalmic Genetics, 46, pp. 625–633. Available at: https://doi.org/10.1080/13816810.2025.2550693.

Han, Ji Hoon (2025) Integrative analysis of genetic disorders using NGS, computational approaches and functional assays. Dissertation. University of Basel.

Kamdar, Dhryata (2025) Integrative genomic and functional insights into inherited ocular diseases. Doctoral Thesis. University of Basel.

Mata, Nathan L. et al. (2025) ‘Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease’, Ophthalmic Research, pp. 555–572. Available at: https://doi.org/10.1159/000549368.

Quinodoz, Mathieu et al. (2025) ‘ABCA4 c.5461-6T> C Causes Stargardt Disease Through Exon Skipping’, Advances in Experimental Medicine and Biology, 1468, pp. 57–62. Available at: https://doi.org/10.1007/978-3-031-76550-6_10.

Sarrocco, Simone et al. (2025) ‘Deep Generative Models for Enhanced Vitreous OCT Imaging’, arXiv (Cornell University) [Preprint]. Cornell University (arXiv (Cornell University)). Available at: https://doi.org/10.48550/arXiv.2511.00881.

Ullah, M. (2025) Characterization of the genetic landscape of hereditary retinopathies in Pakistan. Doctoral Thesis.

Valmaggia, Philippe (2025) Eye and Heart Synchronisation: Development of Time-Resolved Optical Coherence Tomography with Electrocardiographic Coupling. Doctoral Thesis. Universität Basel.

Bibert, Stéphanie et al. (2024) ‘Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase’, Nature Communications, 15. Available at: https://doi.org/10.1038/s41467-024-48287-0.

Dueñas Rey, Alfredo et al. (2024) ‘Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease’, Genome Medicine, 16. Available at: https://doi.org/10.1186/s13073-023-01277-1.

Feu-Basilio, Silvia et al. (2024) ‘Retinal vessel volume reference database derived from volume-rendered optical coherence tomography angiography’, Scientific Reports, 14(1). Available at: https://doi.org/10.1038/s41598-024-53000-8.

Iglesias-Romero, A.B. et al. (2024) ‘MAPK-dependent control of mitotic progression in S. pombe’, BMC Biology, 22(1). Available at: https://doi.org/10.1186/s12915-024-01865-6.

Morikawa, Rei et al. (2024) ‘The sodium-bicarbonate cotransporter Slc4a5 mediates feedback at the first synapse of vision’, Neuron, 112(22), pp. 3715–3733.e9. Available at: https://doi.org/10.1016/j.neuron.2024.08.015.

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.

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.

Fellmann, Florence et al. (2024) ‘An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants’, JCI Insight. 01.08.2024, 9(17). Available at: https://doi.org/10.1172/jci.insight.172475.

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.

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, Giacomo 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, pp. 448–457. Available at: https://doi.org/10.1159/000540607.

Chan, Eric J. et al. (2024) ‘Retinal sensitivity in macular subfields and their association with contrast sensitivity in early and intermediate age-related macular degeneration’, Ophthalmic Research, 67(1), pp. 458–469. Available at: https://doi.org/10.1159/000540312.

Laich, Yannik et al. (2024) ‘Optical Coherence Tomography Angiography–Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel–Lindau Disease’, Translational Vision Science and Technology, 13(7). Available at: https://doi.org/10.1167/tvst.13.7.8.

Han, Ji Hoon et al. (2024) ‘Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration’, Genetics in Medicine. 28.02.2024, 26(6). Available at: https://doi.org/10.1016/j.gim.2024.101106.

Cortinhal, Telmo et al. (2024) ‘Genetic profile of syndromic retinitis pigmentosa in Portugal’, Graefe’s Archive for Clinical and Experimental Ophthalmology, 262, pp. 1883–1897. Available at: https://doi.org/10.1007/s00417-023-06360-2.

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.

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.

Arsenijevic, Yvan et al. (2024) ‘Fine-tuning FAM161A gene augmentation therapy to restore retinal function’, EMBO Molecular Medicine, 16, pp. 805–822. Available at: https://doi.org/10.1038/s44321-024-00053-x.

Hitti-Malin, Rebekkah J. et al. (2024) ‘Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes’, Biomolecules, 14(3). Available at: https://doi.org/10.3390/biom14030367.

Conti, Giovanni Marco et al. (2024) ‘GNB1-Related Rod-Cone Dystrophy: A Case Report’, Case Reports in Ophthalmology, 15(1), pp. 230–237. Available at: https://doi.org/10.1159/000537997.

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.

György Bence, Roska Botond and Scholl Hendrik P N (2024) ‘HUMAN CONE PHOTORECEPTOR OPTOGENETIC CONSTRUCTS’. Edited by Institute of molecular and clinical ophthalmology Basel (IOB).

Bauwens, Miriam et al. (2024) ‘Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction’, American Journal of Human Genetics. 24.01.2024, 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.

Conti, Giovanni Marco 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.

Grosso, Andrea et al. (2023) ‘A Unique Presentation of Bilateral Chorioretinal Atrophy’, Asia-Pacific Journal of Ophthalmology. 01.09.2023, 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.

Faes L et al. (2023) ‘Transforming ophthalmology in the digital century—new care models with added value for patients’, Eye (Basingstoke), 37(11), pp. 2172–2175. Available at: https://doi.org/10.1038/s41433-022-02313-x.

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.

Koval, Alexey et al. (2023) ‘In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening’, Med, 4(5), pp. 311–325.e7. Available at: https://doi.org/10.1016/j.medj.2023.03.001.

Munz, M. et al. (2023) ‘Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex’, Cell, 186(9), pp. 1930–1949.e31. Available at: https://doi.org/10.1016/j.cell.2023.03.025.

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.

Peter, Virginie G et al. (2023) ‘The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis’, PNAS Nexus. 13.02.2023, 2(3). Available at: https://doi.org/10.1093/pnasnexus/pgad043.

Daich Varela M et al. (2023) ‘Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies’, Human Molecular Genetics, 32(4), pp. 595–607. Available at: https://doi.org/10.1093/hmg/ddac227.

Cuadrado-Vilanova M et al. (2023) ‘Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients’, Journal of Pathology: Clinical Research, 9(1), pp. 32–43. Available at: https://doi.org/10.1002/cjp2.296.

Hartmann J. et al. (2023) ‘Comparative Deep Learning Architectures to Detect Tiny Features in Ophthalmic Imaging’, in Proceedings - 2023 10th IEEE Swiss Conference on Data Science, SDS 2023. Institute of Electrical and Electronics Engineers Inc. (Proceedings - 2023 10th IEEE Swiss Conference on Data Science, SDS 2023), pp. 112–119. Available at: https://doi.org/10.1109/sds57534.2023.00024.

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.

Moyel, A.R., Robichaux, M.A. and Wensel, T. (2023) ‘Expansion Microscopy of Mouse Photoreceptor Cilia’, in Advances in Experimental Medicine and Biology. Springer (Advances in Experimental Medicine and Biology), pp. 395–402. Available at: https://doi.org/10.1007/978-3-031-27681-1_58.

Enz TJ et al. (2022) ‘Volume-rendered optical coherence tomography angiography during ocular interventions: Advocating for noninvasive intraoperative retinal perfusion monitoring’, Journal of Biophotonics, 15(12), p. e202200169. Available at: https://doi.org/10.1002/jbio.202200169.

Judák, Linda et al. (2022) ‘Sharp-wave ripple doublets induce complex dendritic spikes in parvalbumin interneurons in vivo’, Nature Communications, 13(1). Available at: https://doi.org/10.1038/s41467-022-34520-1.

Jurkute N. et al. (2022) ‘Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype’, npj Genomic Medicine, 7(1). Available at: https://doi.org/10.1038/s41525-022-00330-z.

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.

Peter, V.G. et al. (2022) ‘Erratum to: New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV (Human Mutation, (2021), 42, 3, (261-271), 10.1002/humu.24150)’, Human Mutation, 43(12), pp. 2326–2327. Available at: https://doi.org/10.1002/humu.24496.

Van de Sompele S. et al. (2022) ‘Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy’, American Journal of Human Genetics, 109(11), pp. 2029–2048. Available at: https://doi.org/10.1016/j.ajhg.2022.09.013.

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.

Hahaut, V. et al. (2022) ‘Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq’, Nature Biotechnology, 40(10), pp. 1447–1451. Available at: https://doi.org/10.1038/s41587-022-01312-3.

Rothenbuehler SP et al. (2022) ‘Comparison of Spectral-Domain OCT versus Swept-Source OCT for the Detection of Deep Optic Disc Drusen’, Diagnostics, 12(10). Available at: https://doi.org/10.3390/diagnostics12102515.