Associated Papers
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Chen X et al.
Nature Communications, 2025
Blue Cone Monochromatism.
Hartung KJ et al.
Advances in Experimental Medicine and Biology, 2025
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
Cideciyan AV et al.
International Journal of Molecular Sciences, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M et al.
Progress in Retinal and Eye Research, 2024
Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.
Sechrest ER et al.
Jci Insight, 2024
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L et al.
Npj Genomic Medicine, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Nash BM et al.
International Journal of Molecular Sciences, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Khateb S et al.
Molecular Vision, 2022
Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.
Zhu P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Iarossi G et al.
International Journal of Molecular Sciences, 2021
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
Katagiri S et al.
Scientific Reports, 2018
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Patterson EJ et al.
Investigative Ophthalmology & Visual Science, 2016
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
Luo X et al.
Plos One, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Carroll J et al.
Investigative Ophthalmology & Visual Science, 2012
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC et al.
Advances in Experimental Medicine and Biology, 2012
[Achromatopsia].
Poloschek CM et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2010
Oligocone trichromacy: clinical and molecular genetic investigations.
Andersen MK et al.
Investigative Ophthalmology & Visual Science, 2010
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E et al.
Genomics, 1995