Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.
Neissi M et al.
Clinical Case Reports, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Inherited retinal dystrophies in a Kuwaiti tribe.
Pandova MG et al.
Ophthalmic Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 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
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
Riera M et al.
The British Journal of Ophthalmology, 2020
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Huckfeldt RM et al.
Molecular Vision, 2020
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
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F et al.
Molecular Vision, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I et al.
Human Mutation, 2012
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh MA et al.
Molecular Vision, 2009