Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and 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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
Preising MN et al.
Klinische Monatsblatter Fur Augenheilkunde, 2019
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Sheck L et al.
Ophthalmology, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
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