Associated Papers
The potential use of anti-codon engineered tRNAs (ACE-tRNAs) to treat nonsense variants causing inherited retinal diseases.
Sarma AS et al.
Molecular Aspects of Medicine, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.
Chen Y et al.
Bmc Pregnancy and Childbirth, 2025
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
Natsume K et al.
Scientific Reports, 2024
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
Jang MA et al.
Scientific Reports, 2024
Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.
Park Y et al.
Current Issues in Molecular Biology, 2024
Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.
Choi SW et al.
Translational Vision Science & Technology, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
Kim DJ et al.
Ophthalmic Research, 2024
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A et al.
Genetics in Medicine Open, 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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
In Silico identification of a common mobile element insertion in exon 4 of RP1.
Won D et al.
Scientific Reports, 2021
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
Mizobuchi K et al.
Journal of Clinical Medicine, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.
Wang C et al.
Aging, 2021
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.
Kim YN et al.
Journal of Ophthalmology, 2021
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K et al.
Nature Communications, 2019
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK et al.
Investigative Ophthalmology & Visual Science, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Li S et al.
Genetic Testing and Molecular Biomarkers, 2018
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ et al.
Investigative Ophthalmology & Visual Science, 2010
Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.
Jin ZB et al.
Investigative Ophthalmology & Visual Science, 2008
A novel missense RP1 mutation in retinitis pigmentosa.
Chiang SW et al.
Eye (london, England), 2006
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C et al.
Journal of Medical Genetics, 2005
[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
Wang DY et al.
Zhonghua Yi Xue Za Zhi, 2005