Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 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
The genomic and transcriptome characteristics of lung adenocarcinoma patients with previous breast cancer.
Wang Y et al.
Bmc Cancer, 2022
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.
Kim HM et al.
Genes, 2021
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.
Radojevic B et al.
Ophthalmic Genetics, 2021
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.
Alshamrani AA et al.
American Journal of Ophthalmology Case Reports, 2020
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.
Afshar F et al.
Eye (london, England), 2020
Isolated rod dysfunction associated with a novel genotype of CNGB1.
Ba-Abbad R et al.
American Journal of Ophthalmology Case Reports, 2019
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
Hull S et al.
Jama Ophthalmology, 2017
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015