Associated Papers
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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