Associated Papers
Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.
Aleman TS et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
37250922 (PubMed )
Supplement: mmc7.pdf
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
29178642 (PubMed )
Supplement: MGG3-5-652-s003.pdf
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
Select a paper to view details