1. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. (24th July 2019) Authors: Köhler, Sebastian; Øien, N. Christine; Buske, Orion J.; Groza, Tudor; Jacobsen, Julius O. B.; McNamara, Craig; Vasilevsky, Nicole; Carmody, Leigh C.; Gourdine, J. P.; Gargano, Michael; McMurry, Julie A.; Danis, Daniel; Mungall, Christopher J.; Smedley, Damian; Haendel, Melissa; Robinson, Peter N. Editors: Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 103(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GA4GH Phenopackets: A Practical Introduction. Issue 1 (25th August 2022) Authors: Ladewig, Markus S.; Jacobsen, Julius O. B.; Wagner, Alex H.; Danis, Daniel; El Kassaby, Baha; Gargano, Michael; Groza, Tudor; Baudis, Michael; Steinhaus, Robin; Seelow, Dominik; Bechrakis, Nikolaos E.; Mungall, Christopher J.; Schofield, Paul N.; Elemento, Olivier; Smith, Lindsay; McMurry, Julie ... Journal: Advanced genetics Issue: Volume 4:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. Issue Volume 45:Issue D1(2017) (29th November 2016) Authors: Mungall, Christopher J.; McMurry, Julie A.; Köhler, Sebastian; Balhoff, James P.; Borromeo, Charles; Brush, Matthew; Carbon, Seth; Conlin, Tom; Dunn, Nathan; Engelstad, Mark; Foster, Erin; Gourdine, J.P.; Jacobsen, Julius O.B.; Keith, Dan; Laraway, Bryan; Lewis, Suzanna E.; NguyenXuan, Jeremy; Sh... Journal: Nucleic acids research Issue: Volume 45:Issue D1(2017) Page Start: D712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗