Associated Papers
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
38927702 (PubMed )
Supplement: genes-15-00766-s001.zip › Tab._S3.xlsx › Foglio1
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
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
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S3_AD
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Huckfeldt RM et al.
Molecular Vision, 2020
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C et al.
Plos One, 2017
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
El Shamieh S et al.
Biomed Research International, 2015
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
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