Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
iPSC-derived retinal pigment epithelium: an in vitro platform to reproduce key cellular phenotypes and pathophysiology of retinal degenerative diseases.
Li H et al.
Stem Cells Translational Medicine, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
MFRP in Early Onset Retinal Degeneration: Clinical and Molecular Perspectives.
Woodard DR et al.
Advances in Experimental Medicine and Biology, 2025
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
Fernández AA et al.
Advances in Experimental Medicine and Biology, 2025
Long Anteriorly Inserted Zonules in C1QTNF5 Gene Mutation.
Félix R et al.
Ophthalmology. Retina, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
Torrell-Belzach N et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
Cheloni R et al.
Translational Vision Science & Technology, 2023
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
Li RTH et al.
Investigative Ophthalmology & Visual Science, 2023
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L et al.
The American Journal of Pathology, 2023
Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.
Duncan HJ et al.
Bmj Open Ophthalmology, 2023
Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.
Lando L et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5.
Alonso-Carriazo Fernández A et al.
Stem Cell Research, 2023
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.
Manley A et al.
Biomolecules, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B et al.
Genes, 2023
A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Borooah S et al.
Advances in Experimental Medicine and Biology, 2023
THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
Papastavrou VT et al.
Retinal Cases & Brief Reports, 2022
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Miyagishima KJ et al.
Communications Biology, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
Keenan TDL et al.
Retina (philadelphia, Pa.), 2021
Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S et al.
Ophthalmology. Retina, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
De Zaeytijd J et al.
Ophthalmic Genetics, 2021
Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.
Hołubowicz R et al.
International Journal of Molecular Sciences, 2021
QUANTITATIVE ANALYSIS OF LONGITUDINAL CHANGES IN MULTIMODAL IMAGING OF LATE-ONSET RETINAL DEGENERATION.
Vanderford EK et al.
Retina (philadelphia, Pa.), 2021
CHARACTERIZING THE NATURAL HISTORY OF FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.
Borooah S et al.
Retina (philadelphia, Pa.), 2021
Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
Sparrow JR et al.
Investigative Ophthalmology & Visual Science, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.
Arteche-López A et al.
Scientific Reports, 2021
Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2021
Genome-Editing Strategies for Treating Human Retinal Degenerations.
Quinn J et al.
Human Gene Therapy, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Kellner U et al.
International Journal of Molecular Sciences, 2021
Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.
Zukerman R et al.
Genes, 2020
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.
Khan KN et al.
Translational Vision Science & Technology, 2020
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
Chekuri A et al.
Aging Cell, 2019
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Chekuri A et al.
Human Gene Therapy, 2019
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.
Dalvi S et al.
Advances in Experimental Medicine and Biology, 2019
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.
Borooah S et al.
Ophthalmic Genetics, 2018
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Co-Expression of Wild-Type and Mutant S163R C1QTNF5 in Retinal Pigment Epithelium.
Dinculescu A et al.
Advances in Experimental Medicine and Biology, 2018
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton CM et al.
Scientific Reports, 2017
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL et al.
Genetic Testing and Molecular Biomarkers, 2017