Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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: Table4.xlsx › Results
Absence of PRCD Leads to Dysregulation in Lipid Homeostasis Resulting in Disorganization of Photoreceptor Outer Segment Structure.
Motipally SI et al.
Advances in Experimental Medicine and Biology, 2023
R17C Mutation in Photoreceptor Disc-Specific Protein, PRCD, Results in Additional Lipidation Altering Protein Stability and Subcellular Localization.
Myers B et al.
International Journal of Molecular Sciences, 2022
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I et al.
Scientific Reports, 2021
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D et al.
Human Mutation, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration.
Skiba NP et al.
Journal of Proteome Research, 2013
Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
Pach J et al.
Molecular Vision, 2013
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Human Genetics, 2010
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.
Nevet MJ et al.
Journal of Medical Genetics, 2010
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