Associated Papers
Fundus albipunctatus disease-associated RDH5/L310delinsEV mutation undertakes AMFR-mediated polyubiquitination and degradation in proteasome.
Dong Y et al.
Experimental Eye Research, 2026
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
Li L et al.
Investigative Ophthalmology & Visual Science, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Maranhao B et al.
Genomics, 0
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