Associated Papers
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
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton CM et al.
Scientific Reports, 2017
28939808 (PubMed )
Supplement: 41598_2017_11898_MOESM1_ESM.pdf
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