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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J. F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J. van Schooneveld, José Luis Gómez-Skármeta, Juan J. Tena, Juan Ramón Martínez‐Morales, Petra Lišková, Kris Vleminckx, Elfride De Baere

2022The American Journal of Human Genetics36 citationsDOIOpen Access PDF

Topics & Concepts

BiologyEnhancerRetinaGeneticsXenopusRetinalmicroRNAComputational biologyGeneGene expressionNeuroscienceBiochemistryRetinal Diseases and TreatmentsRetinal Development and DisordersSingle-cell and spatial transcriptomics
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy | Litcius