Associated Papers
A review of the role of EFEMP1 in ophthalmic disease.
Wood AJ et al.
Ophthalmic Genetics, 2025
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR et al.
Scientific Reports, 2021
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Daniel S et al.
Journal of Molecular Medicine (berlin, Germany), 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
30215852 (PubMed )
Supplement: CGE-94-569-s003.xlsx › VUS
Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Hulleman JD et al.
Experimental Eye Research, 2016
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Duvvari MR et al.
Plos One, 2016
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Tejan-Kamara AZ et al.
Ophthalmology. Glaucoma, 0
Select a paper to view details