Associated Papers
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L et al.
International Journal of Molecular Sciences, 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
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
Jaffal L et al.
European Journal of Human Genetics : Ejhg, 2021
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Brandl C et al.
Genes, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA et al.
Investigative Ophthalmology & Visual Science, 2014
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