Aug 13, 2021ABCA4An Overview of the Genetics of ABCA4 Retinopathies, an Evolving StoryThe aim of this review article is to give an overview of the current status of genotyping in ABCA4, an update on missing heritability
Apr 22, 2016USH2APanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaTargeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
