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Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L. Mantere T, et al. Among authors: oorsprong m. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422. doi: 10.1016/j.ajhg.2021.05.012. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237280 Free PMC article.
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Neveling K, Mantere T, Vermeulen S, Oorsprong M, van Beek R, Kater-Baats E, Pauper M, van der Zande G, Smeets D, Weghuis DO, Stevens-Kroef MJPL, Hoischen A. Neveling K, et al. Among authors: oorsprong m. Am J Hum Genet. 2021 Aug 5;108(8):1423-1435. doi: 10.1016/j.ajhg.2021.06.001. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237281 Free PMC article.
Genomic instability in non-breast/ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L, van der Post RS, Vos JR, Mensenkamp AR, Pamidimarri Naga S, Hampstead JE, Vermeulen E, Oorsprong M, Hofste T, Simons M, Nagtegaal ID, Hoogerbrugge N, de Voer RM, Ligtenberg MJL. Elze L, et al. Among authors: oorsprong m. J Natl Cancer Inst. 2024 Jul 3:djae160. doi: 10.1093/jnci/djae160. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 38960732