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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J, de Vrieze E, Li CHZ, van Berkel E, Broekman S, Aben M, Peters T, Oostrik J, Neveling K, Venselaar H, Ramos MG, Gilissen C, Astuti GDN, Galbany JC, van Lith-Verhoeven JJC, Ockeloen CW, Haer-Wigman L, Hoyng CB, Cremers FPM, Kremer H, Roosing S, van Wijk E. Reurink J, et al. Among authors: van berkel e. NPJ Genom Med. 2022 Jun 7;7(1):37. doi: 10.1038/s41525-022-00306-z. NPJ Genom Med. 2022. PMID: 35672333 Free PMC article.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: van berkel e. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 Free PMC article.