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Page 1
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: van cauwenbergh c. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 Free PMC article.
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Coppieters F, et al. Among authors: van cauwenbergh c. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261762 Free 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: van cauwenbergh c. 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: van cauwenbergh c. 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.
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E. Van Cauwenbergh C, et al. Among authors: van laethem t, van schil k. Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. Epub 2016 Sep 8. Genet Med. 2017. PMID: 27608171 Free PMC article.
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E. Van Cauwenbergh C, et al. Among authors: van camp g. PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. eCollection 2017. PLoS One. 2017. PMID: 28076437 Free PMC article.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Van Schil K, et al. Among authors: van de sompele s, van heetvelde m, van cauwenbergh c. Genet Med. 2018 Feb;20(2):202-213. doi: 10.1038/gim.2017.97. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749477 Free PMC article.
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ. Valkenburg D, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817. Invest Ophthalmol Vis Sci. 2018. PMID: 30193310
33 results