Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P et al.
Indian Journal of Ophthalmology, 2023
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV et al.
Genes, 2022
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
32783370 (PubMed )
Supplement: AJMG-184-762-s001.docx
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Haque MN et al.
Human Genome Variation, 2019
30992995 (PubMed )
Supplement: 41439_2019_48_MOESM3_ESM.pdf
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2016
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R et al.
Molecular Vision, 2013
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B et al.
Molecular Vision, 2012
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
Henderson RH et al.
Molecular Vision, 2010
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP et al.
Ophthalmic Genetics, 0
28885867 (PubMed )
Supplement: supplement_1.docx
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