Associated Papers
Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.
Manav Yiğit Z et al.
Ophthalmic Genetics, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
Sharkia R et al.
Genes, 2024
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.
Yassin SH et al.
Ophthalmic Genetics, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J et al.
American Journal of Medical Genetics. Part A, 2019
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K et al.
American Journal of Medical Genetics. Part A, 2019
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
Jauregui R et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
Tatour Y et al.
Journal of Medical Genetics, 2017
Select a paper to view details