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
Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.
Nadelmann JB et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
27353947 (PubMed )
Supplement: srep28755-s1.pdf
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