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Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci
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- Miscellaneous
- open access
Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci
(2023) -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3