Show
Sort by
-
- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
-
Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
-
A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
-
- Journal Article
- open access
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
-
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
(2023) -
- Journal Article
- A1
- open access
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
-
- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
-
- Journal Article
- A1
- open access
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10 : a phase 1b/2 trial
-
- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
-
Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines