Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Damodar K et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.
Burstedt M et al.
Investigative Ophthalmology & Visual Science, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Bocquet B et al.
Ophthalmology Science, 2021
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
Richard AJ et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2021
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
Oh JK et al.
Scientific Reports, 2020
32488013 (PubMed )
Supplement: 41598_2020_65763_MOESM1_ESM.pdf
Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
Lima de Carvalho JR et al.
The Journal of Biological Chemistry, 2020
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
Dessalces E et al.
Jama Ophthalmology, 2013
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