Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Aqueous Humor Exosomal Membrane Proteins: Decoding Pathogenic Molecular Signatures in Retinitis Pigmentosa.
Zhu Q et al.
Translational Vision Science & Technology, 2025
41384798 (PubMed )
Supplement: tvst-14-12-15_s008.xlsx › Sheet1
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Georgiou M et al.
American Journal of Ophthalmology, 2025
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Brandl C et al.
Genes, 2017
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
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