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

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

Publikováno v: American journal of human genetics, 109(11), 2029-2048. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
van de Sompele, S, Small, K W, Cicekdal, M B, Soriano, V C L P, D'haene, E, Shaya, F S, Agemy, S, van der Snickt, T, Rey, A D, Rosseel, T, van Heetvelde, M, Vergult, S, Balikova, I, Bergen, A A, Boon, C J F, de Zaeytijd, J, Inglehearn, C F, Kousal, B, Leroy, B P, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, M J, Gómez-Skarmeta, J L, Tena, J J, Martinez-Morales, J R, Liskova, P, Vleminckx, K & de Baere, E 2022, ' Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy ', American journal of human genetics, vol. 109, no. 11, pp. 2029-2048 . https://doi.org/10.1016/j.ajhg.2022.09.013
The American journal of human genetics
American Journal of Human Genetics

North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct c

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https://pure.amc.nl/en/publications/multiomics-approach-dissects-cisregulatory-mechanisms-underlying-north-carolina-macular-dystrophy-a-retinal-enhanceropathy(a21b31c2-45b2-4ac7-8f36-b1ba5837f3eb).html

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Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).

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