Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Farooqui SZ et al.
Ophthalmic Genetics, 2025
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Upadhyaya A et al.
Indian Journal of Ophthalmology, 2025
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
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Tan TE et al.
Diagnostics (basel, Switzerland), 2023
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Preising MN et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007
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