Associated Papers
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).
Borchert GA et al.
Ophthalmic Genetics, 2026
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
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
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
A Global Map of G Protein Signaling Regulation by RGS Proteins.
Masuho I et al.
Cell, 2020
33007266 (PubMed )
Supplement: mmc5.xlsx › RGS9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Genetic Analysis of Rare Human Variants of Regulators of G Protein Signaling Proteins and Their Role in Human Physiology and Disease.
Squires KE et al.
Pharmacological Reviews, 2018
Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).
Strauss RW et al.
American Journal of Ophthalmology, 2015
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
Michaelides M et al.
Ophthalmology, 2010
Six patients with bradyopsia (slow vision): clinical features and course of the disease.
Hartong DT et al.
Ophthalmology, 2007
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
Nishiguchi KM et al.
Nature, 2004
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