Associated Papers
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.
Antropoli A et al.
Progress in Retinal and Eye Research, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S5-VUSs_classified_as_likely_pathogenic_or_pathogenic_by_previous_studies.xlsx › Sheet1
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
DeBenedictis MJ et al.
Ophthalmic Genetics, 2020
Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.
Tang J et al.
Theranostics, 2020
32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations
Sorsby fundus dystrophy: Insights from the past and looking to the future.
Anand-Apte B et al.
Journal of Neuroscience Research, 2019
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
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