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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Haer-Wigman L, Stegmann TC, Solati S, Ait Soussan A, Beckers E, van der Harst P, van Hulst-Sundermeijer M, Ligthart P, van Rhenen D, Schepers H, de Haas M, van der Schoot CE. Haer-Wigman L, et al. Transfusion. 2015 Jun;55(6 Pt 2):1457-66. doi: 10.1111/trf.13014. Epub 2015 Feb 3. Transfusion. 2015. PMID: 25647324
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