Associated Papers
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
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
36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 2021
34795310 (PubMed )
Supplement: 41525_2021_261_MOESM2_ESM.pdf
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Long Y et al.
Ophthalmic Genetics, 2020
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L et al.
Human Molecular Genetics, 2015
Unexpected Etiology in a Case of Bilateral Maculopathy.
Patel P et al.
Case Reports in Ophthalmology, 0
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