Associated Papers
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table
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: Table3.XLSX › Sheet1
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