Navigating the Phenotype Frontier: The Monarch Initiative by McMurry, Julie A, Köhler, Sebastian, Washington, Nicole L, Balhoff, James P, Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, Jean-Philippe, Jacobsen, Julius O B, Keith, Daniel, Laraway, Bryan, Xuan, Jeremy Nguyen, Shefchek, Kent, Vasilevsky, Nicole A, Yuan, Zhou, Lewis, Suzanna E, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A

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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data by Pontikos, Nikolas, Yu, Jing, Moghul, Ismail, Withington, Lucy, Blanco-Kelly, Fiona, Vulliamy, Tom, Wong, Tsz Lun Ernest, Murphy, Cian, Cipriani, Valentina, Fiorentino, Alessia, Arno, Gavin, Greene, Daniel, Jacobsen, Julius O B, Clark, Tristan, Gregory, David S, Nemeth, Andrea M, Halford, Stephanie, Inglehearn, Chris F, Downes, Susan, Black, Graeme C, Webster, Andrew R, Hardcastle, Alison J, Plagnol, Vincent

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease by Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data by Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I, Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R, Moore, Anthony T, Robinson, Peter N, Jacobsen, Julius O B, Smedley, Damian

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A mouse informatics platform for phenotypic and translational discovery by Ring, Natalie, Meehan, Terrence F., Blake, Andrew, Brown, James, Chen, Chao-Kung, Conte, Nathalie, Di Fenza, Armida, Fiegel, Tanja, Horner, Neil, Jacobsen, Julius O. B., Karp, Natasha, Lawson, Thomas, Mason, Jeremy C., Matthews, Peter, Morgan, Hugh, Relac, Mike, Santos, Luis, Smedley, Damian, Sneddon, Duncan, Pengelly, Alice, Tudose, Ilinca, Warren, Jonathan W. G., Westerberg, Henrik, Yaikhom, Gagarine, Parkinson, Helen, Mallon, Ann-Marie

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease by Smedley, Damian, Schubach, Max, Jacobsen, Julius OB, Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L, McMurry, Julie A, Haendel, Melissa A, Mungall, Christopher J, Lewis, Suzanna E, Groza, Tudor, Valentini, Giorgio, Robinson, Peter N

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An Improved Bioinformatics Tool for Rare Disease Variant Prioritization: The Exomiser 9.0.1 in Clinical Practice by Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R, Moore, Anthony T, Carss, Keren J, Raymond, Lucy F, Danis, Daniel, Robinson, Peter N, Jacobsen, Julius OB, Smedley, Damian

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