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2004 4
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Page 1
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: van wijk e. 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.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: van wijk e. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.
Schellens RTW, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, Kremer H, De Vrieze E, Van Wijk E. Schellens RTW, et al. Among authors: van wijk e. Mol Ther Nucleic Acids. 2023 May 20;32:980-994. doi: 10.1016/j.omtn.2023.05.020. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37313440 Free PMC article.
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: van wijk e. HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37654703 Free PMC article.
75 results