Associated Papers
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 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
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
Hashem SA et al.
American Journal of Ophthalmology, 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 epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Sallah SR et al.
The Journal of Molecular Diagnostics : Jmd, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L et al.
International Journal of Molecular Sciences, 2021
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M et al.
International Journal of Molecular Sciences, 2019
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL et al.
International Journal of Ophthalmology, 2016
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Shen S et al.
Ophthalmic Genetics, 2014
[Cause of retinitis pigmentosa and new therapeutics under development].
Sakamoto K et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH et al.
American Journal of Ophthalmology, 2008
[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].
Baiget M et al.
Medicina Clinica, 1998