Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
Hashem SA et al.
American Journal of Ophthalmology, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
35836572 (PubMed )
Supplement: Table1.xlsx › Table_S1_Africa
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL et al.
International Journal of Ophthalmology, 2016
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Main_File.pdf
Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Shen S et al.
Ophthalmic Genetics, 2014
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
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A et al.
Molecular Vision, 2010
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