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Paper Details

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
62
2020
Chr17q22, Dominant Retinitis Pigmentosa, GDPD1, LINC01476, Mendelian diseases, ROs, RP17, RP17 ROs, RP17 SVs, SVs, TAD, YPEL2, adRP, autosomal-dominant retinitis pigmentosa, binding sites, blindness, enhancers, fibroblasts, iPSCs, induced pluripotent stem cells, loss of vision, neo, neo-TAD, neo-TADs, photoreceptor precursor cells, regional genes, retinal, retinal enhancer, retinal enhancer RNA, retinal enhancers, topologically associating domain
Author NameAffiliation
Carlo RivoltaUniversity of Leicester, UK Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), University Hospital Basel
Carlo RivoltaUniversity of Leicester, UK Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), University Hospital Basel
Nikolas PontikosUCL Institute of Ophthalmology, UK UK Inherited Retinal Disease Consortium Genomics England Clinical Interpretation Partnership.
Gavin ArnoUCL Institute of Ophthalmology, UK UK Inherited Retinal Disease Consortium Genomics England Clinical Interpretation Partnership Moorfields Eye Hospital
Christian GilissenRadboud University Medical Center
Frances Lucy RaymondCambridge University Hospitals, Cambridge Institute for Medical Research, University of Cambridge
Graeme C M BlackUK Inherited Retinal Disease Consortium Genomics England Clinical Interpretation Partnership Manchester Centre for Genomic Medicine, St. Mary's Hospital
Andrew R WebsterUCL Institute of Ophthalmology, UK UK Inherited Retinal Disease Consortium Genomics England Clinical Interpretation Partnership Moorfields Eye Hospital
Michel MichaelidesUCL Institute of Ophthalmology, UK UK Inherited Retinal Disease Consortium Genomics England Clinical Interpretation Partnership Moorfields Eye Hospital
Carel B HoyngDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center
Stefan MundlosMax Planck Institute for Molecular Genetics, Germany Institute for Medical and Human Genetics, Charite - Universitatsmedizin
Susanne RoosingRadboud University Medical Center, the Netherlands Donders Institute for Brain Cognition and Behaviour
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