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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: de bruyne m. 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.
OPENPichia: licence-free Komagataella phaffii chassis strains and toolkit for protein expression.
Claes K, Van Herpe D, Vanluchene R, Roels C, Van Moer B, Wyseure E, Vandewalle K, Eeckhaut H, Yilmaz S, Vanmarcke S, Çıtak E, Fijalkowska D, Grootaert H, Lonigro C, Meuris L, Michielsen G, Naessens J, van Schie L, De Rycke R, De Bruyne M, Borghgraef P, Callewaert N. Claes K, et al. Among authors: de bruyne m. Nat Microbiol. 2024 Mar;9(3):864-876. doi: 10.1038/s41564-023-01574-w. Epub 2024 Mar 4. Nat Microbiol. 2024. PMID: 38443579 Free PMC article.
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: de bruyne m. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
Visualisation of microalgal lipid bodies through electron microscopy.
Verwee E, Van de Walle D, De Bruyne M, Mienis E, Sekulic M, Chaerle P, Vyverman W, Foubert I, Dewettinck K. Verwee E, et al. Among authors: de bruyne m. J Microsc. 2024 Feb;293(2):118-131. doi: 10.1111/jmi.13259. Epub 2024 Jan 7. J Microsc. 2024. PMID: 38149687
130 results