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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E. Ascari G, et al. Among authors: de pooter t, de coster w, de rijk p, de bruyne m, de baere e, de zaeytijd j. Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33968938 Free PMC article.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Coppieters F, et al. Among authors: de bruyne m, de baere e. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015 Oct 1. Hum Mutat. 2015. PMID: 26316326 Free PMC article.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Coppieters F, et al. Among authors: de bruyne m, de baere e. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017. Am J Hum Genet. 2016. PMID: 27486781 Free PMC article.
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
De Bruyne M, Hoste L, Bogaert DJ, Van den Bossche L, Tavernier SJ, Parthoens E, Migaud M, Konopnicki D, Yombi JC, Lambrecht BN, van Daele S, Alves de Medeiros AK, Brochez L, Beyaert R, De Baere E, Puel A, Casanova JL, Goffard JC, Savvides SN, Haerynck F, Staal J, Dullaers M. De Bruyne M, et al. Among authors: de baere e. Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018. Front Immunol. 2018. PMID: 30429846 Free PMC article.
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Strubbe S, De Bruyne M, Pannicke U, Beyls E, Vandekerckhove B, Leclercq G, De Baere E, Bordon V, Vral A, Schwarz K, Haerynck F, Taghon T. Strubbe S, et al. Among authors: de bruyne m, de baere e. Front Immunol. 2021 Jun 17;12:674226. doi: 10.3389/fimmu.2021.674226. eCollection 2021. Front Immunol. 2021. PMID: 34220820 Free PMC article.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA); Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Naesens L, et al. Among authors: de bruyne m, de baere e. J Clin Immunol. 2022 Jul;42(5):962-974. doi: 10.1007/s10875-022-01209-5. Epub 2022 Mar 23. J Clin Immunol. 2022. PMID: 35320431 Free PMC article.
128 results