Show
Sort by
-
- Journal Article
- A1
- open access
A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
-
- Journal Article
- A1
- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
-
- Journal Article
- A1
- open access
Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice
-
- Journal Article
- A1
- open access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
-
- Journal Article
- A1
- open access
Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies
-
- Journal Article
- A1
- open access
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
-
Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study
-
- Miscellaneous
- open access
omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data
-
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
-
Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features