Associated Papers
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ et al.
Genes, 2023
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
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