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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: bauwens m. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Coppieters F, et al. Among authors: bauwens m. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625443 Free article.
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Astuti GD, et al. Among authors: bauwens m. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. Mol Genet Genomic Med. 2015. PMID: 25629076 Free PMC article.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Among authors: bauwens m. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
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: bauwens m. 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.
Colour Vision in Stargardt Disease.
Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, Leroy BP. Vandenbroucke T, et al. Among authors: bauwens m. Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. Epub 2015 Oct 23. Ophthalmic Res. 2015. PMID: 26492201
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Sangermano R, et al. Among authors: bauwens m. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. Epub 2016 Mar 12. Ophthalmology. 2016. PMID: 26976702
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: bauwens m. 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.
163 results