Associated Papers
Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.
Bai D et al.
Heliyon, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.
Lee W et al.
Ophthalmology. Retina, 2022
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
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA et al.
Cold Spring Harbor Molecular Case Studies, 2020
32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 19.19
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
Genotyping microarray for CSNB-associated genes.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2009
Select a paper to view details