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Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, et al. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes. 2020; 11(4):460. https://doi.org/10.3390/genes11040460

Cipriani, Valentina, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, and et al. 2020. "An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data" Genes 11, no. 4: 460. https://doi.org/10.3390/genes11040460

Cipriani, V., Pontikos, N., Arno, G., Sergouniotis, P. I., Lenassi, E., Thawong, P., Danis, D., Michaelides, M., Webster, A. R., Moore, A. T., Robinson, P. N., Jacobsen, J. O. B., & Smedley, D. (2020). An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes, 11(4), 460. https://doi.org/10.3390/genes11040460