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Page 1
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: van de sompele s. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
D'haene E, López-Soriano V, Martínez-García PM, Kalayanamontri S, Rey AD, Sousa-Ortega A, Naranjo S, Van de Sompele S, Vantomme L, Mahieu Q, Vergult S, Neto A, Gómez-Skarmeta JL, Martínez-Morales JR, Bauwens M, Tena JJ, De Baere E. D'haene E, et al. Among authors: van de sompele s. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. Genome Biol. 2024. PMID: 38760655 Free PMC article.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M. Bauwens M, et al. Among authors: van de sompele s. Clin Genet. 2025 Jan;107(1):44-55. doi: 10.1111/cge.14614. Epub 2024 Aug 28. Clin Genet. 2025. PMID: 39199020 Free PMC article.
16 results