Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s2.xlsx › Table_S2
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
Pan Y et al.
Hgg Advances, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Antropoli A et al.
Investigative Ophthalmology & Visual Science, 2025
New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy.
Cao WC et al.
International Journal of Ophthalmology, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 2020
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Fujinami K et al.
Ophthalmology, 2019
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y et al.
Journal of Medical Genetics, 2019
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2018
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2016
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