Suzanne de Bruijn

349 Appendix PEI polyethyleneimine PFA paraformaldehyde PGD preimplantation genetic diagnosis pLI probability of loss of function intolerance PPC photoreceptor progenitor cell PS phosphorothioate PTA pure tone average qPCR quantitative real-time PCR RD retinal dystrophies RIPOR2 RHO family interacting cell polarization regulator 2 RNA-seq RNA sequencing RO retinal organoid RP retinitis pigmentosa RPE retinal pigment epithelium scRNA-seq single cell RNA sequencing SD-OCT spectral-domain optical tomography SE-NL Southeast Netherlands SIFT Sorting Intolerant From Tolerant smMIP single molecule molecular inversion probe SMRT single molecule real-time SNP single nucleotide polymorphism SNV single nucleotide variant SRS short-read sequencing STGD1 Stargardt disease SV structural variant TAD topologically associating domain TF transcription factor UPD uniparental disomy V1-CEVA variant 1-CEVA VarAFT Variant Annotation and Filter Tool VNTR variable number of tandem repeats WES whole exome sequencing WGS whole genome sequencing WHO world health organization ZMW zero-mode waveguide