Priya R Gupta Wajiha Kheir Bo Peng Jie Duan John P-W Chiang Alessandro Iannaccone
Mol Vis
2022 Aug 16;28:203-219.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36284670/
Retinal Degeneration Retinal Diseases / genetics
Retinal Degeneration Retinal Diseases / genetics Research Support, Non-U.S. Gov't DNA Copy Number Variations Genotype High-Throughput Nucleotide Sequencing / methods Humans Mutation Retrospective Studies
PMC9514548
36284670
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping
2022