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Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Agiannitopoulos K, Pepe G, Tsaousis GN, Potska K, Bouzarelou D, Katseli A, Ntogka C, Meintani A, Tsoulos N, Giassas S, Venizelos V, Markopoulos C, Iosifidou R, Karageorgopoulou S, Christodoulou C, Natsiopoulos I, Papazisis K, Vasilaki-Antonatou M, Kabletsas E, Psyrri A, Ziogas D, Lalla E, Koumarianou A, Anastasakou K, Papadimitriou C, Ozmen V, Tansan S, Kaban K, Ozatli T, Eniu DT, Chiorean A, Blidaru A, Rinsma M, Papadopoulou E, Nasioulas G. Agiannitopoulos K, et al. Among authors: rinsma m. Cancer Genomics Proteomics. 2023 Sep-Oct;20(5):448-455. doi: 10.21873/cgp.20396. Cancer Genomics Proteomics. 2023. PMID: 37643779 Free PMC article.
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, Molleman N, Boschloo R, Yilmaz R, Kuilboer R, Lens S, Sulchan S, Schouten J. Vijzelaar R, et al. Among authors: rinsma m. PLoS One. 2019 Jul 24;14(7):e0220211. doi: 10.1371/journal.pone.0220211. eCollection 2019. PLoS One. 2019. PMID: 31339938 Free PMC article.
Probing the impact of chromatin conformation on genome editing tools.
Chen X, Rinsma M, Janssen JM, Liu J, Maggio I, Gonçalves MA. Chen X, et al. Among authors: rinsma m. Nucleic Acids Res. 2016 Jul 27;44(13):6482-92. doi: 10.1093/nar/gkw524. Epub 2016 Jun 8. Nucleic Acids Res. 2016. PMID: 27280977 Free PMC article.