Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
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
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF et al.
International Journal of Molecular Sciences, 2022
35955564 (PubMed )
Supplement: ijms-23-08431-s001.zip › ijms-1808225-supplementary.pdf
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
33623043 (PubMed )
Supplement: 41525_2021_182_MOESM1_ESM.pdf
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC
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