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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: garanto a. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
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: garanto a. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. Epub 2016 Mar 12. Ophthalmology. 2016. PMID: 26976702
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E. Slijkerman RW, et al. Among authors: garanto a. Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89. Mol Ther Nucleic Acids. 2016. PMID: 27802265 Free article.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI. Corominas J, et al. Among authors: garanto a. Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26. Ophthalmology. 2018. PMID: 29706360 Free PMC article.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Sangermano R, et al. Among authors: garanto a. Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643219 Free PMC article.
69 results