Associated Papers
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM3_ESM.xlsx › Non-coding_variants
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG et al.
Genes, 2023
36980963 (PubMed )
Supplement: genes-14-00690-s001.zip › genes-2245142-supplementary.pdf
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
36259723 (PubMed )
Supplement: HUMU-43-2234-s007.xlsx › DIVs
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J et al.
Human Mutation, 2019
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
Hirji N et al.
Ophthalmic Genetics, 2018
Oligocone trichromacy: clinical and molecular genetic investigations.
Andersen MK et al.
Investigative Ophthalmology & Visual Science, 2010
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
Rosenberg T et al.
Investigative Ophthalmology & Visual Science, 2004
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