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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. Among authors: d haene e. 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.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME. Mohajeri K, et al. Among authors: d haene e. Am J Hum Genet. 2022 Nov 3;109(11):2049-2067. doi: 10.1016/j.ajhg.2022.09.015. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283406 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. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. Genome Biol. 2024. PMID: 38760655 Free PMC article.
CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells.
Jacobs EZ, Warrier S, Volders PJ, D'haene E, Van Lombergen E, Vantomme L, Van der Jeught M, Heindryckx B, Menten B, Vergult S. Jacobs EZ, et al. Sci Rep. 2017 Nov 30;7(1):16650. doi: 10.1038/s41598-017-16932-y. Sci Rep. 2017. PMID: 29192200 Free PMC article.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch N, Dahan I, D'haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. Hirsch N, et al. Among authors: d haene e. Genome Res. 2022 Jul;32(7):1242-1253. doi: 10.1101/gr.276196.121. Epub 2022 Jun 16. Genome Res. 2022. PMID: 35710300 Free PMC article.
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, Brugmann SA, Cox TC, Cotney J. Wilderman A, et al. Among authors: d haene e. Nat Commun. 2024 Jan 2;15(1):136. doi: 10.1038/s41467-023-44506-2. Nat Commun. 2024. PMID: 38167838 Free PMC article.
21 results