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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
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.
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Reurink J, Oostrik J, Aben M, Ramos MG, van Berkel E, Ołdak M, van Wijk E, Kremer H, Roosing S, Cremers FPM.
Reurink J, et al. Among authors: van berkel e.
Int J Mol Sci. 2022 Nov 1;23(21):13343. doi: 10.3390/ijms232113343.
Int J Mol Sci. 2022.
PMID: 36362125
Free PMC article.
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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.
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