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Aug 12, 2021
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
The aim of this review article is to give an overview of the current status of genotyping in ABCA4, an update on missing heritability

Mar 7, 2021
Genome Editing in Retinal Diseases using CRISPR Technology
By: Glenn Yiu, MD, PhD - Department of Ophthalmology & Vision Science, University of California, Davis, Sacramento, California
Ophthalmology

Dec 12, 2020
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations

May 15, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .

Apr 21, 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
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