Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
Germline Disruption of Retinal Pigment Epithelium-Expressed Zebrafish rlbp1b-/- Results in Selective Dim Light Visual Behavior Deficits and Provides a Screening Platform for Evaluating the Pathogenicity of Human RLBP1 Variants.
Fehilly JD et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Structural and functional protein network analyses predict novel signaling functions for rhodopsin.
Kiel C et al.
Molecular Systems Biology, 2011
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A et al.
Molecular Vision, 2010
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Singh HP et al.
Investigative Ophthalmology & Visual Science, 2009
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L et al.
Investigative Ophthalmology & Visual Science, 2008
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G et al.
Investigative Ophthalmology & Visual Science, 2006
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt MS et al.
Investigative Ophthalmology & Visual Science, 1999