Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Takahashi VKL et al.
Orphanet Journal of Rare Diseases, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M et al.
Ophthalmic Genetics, 2016
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