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Facchini S, Dominik N, Manini A, Efthymiou S, Currò R, Rugginini B, Vegezzi E, Quartesan I, Perrone B, Kutty SK, et al. Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions. Biomolecules. 2023; 13(10):1546. https://doi.org/10.3390/biom13101546

Facchini, Stefano, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, and et al. 2023. "Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions" Biomolecules 13, no. 10: 1546. https://doi.org/10.3390/biom13101546

Facchini, S., Dominik, N., Manini, A., Efthymiou, S., Currò, R., Rugginini, B., Vegezzi, E., Quartesan, I., Perrone, B., Kutty, S. K., Galassi Deforie, V., Schnekenberg, R. P., Abati, E., Pichiecchio, A., Valente, E. M., Tassorelli, C., Reilly, M. M., Houlden, H., Bugiardini, E., & Cortese, A. (2023). Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions. Biomolecules, 13(10), 1546. https://doi.org/10.3390/biom13101546