Associated Papers
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
39676705 (PubMed )
Supplement: MGG3-12-e70046-s001.xlsx › Supplementary_Table_3
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.
Santos DF et al.
Clinical Ophthalmology (auckland, N.z.), 2022
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Select a paper to view details