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nicolevasilevsky authored Nov 13, 2023
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## Semantic Phenotyping of Diseases

- Leigh C. Carmody, Michael A. Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P. Adam, Hannah Blau, Lauren E. Chan, David Gomez-Andres, Rita Horvath, Megan L. Kraus, Markus S. Ladewig, David Lewis-Smith, Hanns Lochmüller, Nicolas A. Matentzoglu, Monica C. Munoz-Torres, Catharina Schuetz, Berthold Seitz, Morgan N. Similuk, Teresa N. Sparks, Timmy Strauss, Emilia M. Swietlik, Rachel Thompson, Xingmin Aaron Zhang, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson. **The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.** Med, 2023,ISSN 2666-6340, https://doi.org/10.1016/j.medj.2023.10.003.
- Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, ..., Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson. **The Human Phenotype Ontology in 2024: phenotypes around the world.** Nucleic Acids Research, gkad1005, https://doi.org/10.1093/nar/gkad1005. [Link here](https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkad1005/7416384?login=false)
- Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C Carmody, Sophie Collardeau-Frachon, Esther A Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna El Ghosh, Jessica L Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G Iliescu, Markus S Ladewig, Monica C Munoz-Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A Vasilevsky, Ronald J Wapner, Roni Zemet, Melissa A Haendel, Peter N Robinson. **Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology**, American Journal of Medical Genetics Part C: Seminars in Medical Genetics. https://doi.org/10.1002/ajmg.c.31989 [Link here](https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31989)
- Julius O. B. Jacobsen, Michael Baudis, Gareth S. Baynam, Jacques S. Beckmann, Sergi Beltran, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, Kevin C. Kent Lloyd, Aly Khalifa, Peter M. Krawitz, Sebastian Köhler, Brian J. Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A. McMurry, Alejandro Metke-Jimenez, Christopher J. Mungall, Monica C. Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N. Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D. Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M. Swietlik, Sylvia Thun, Nicole A. Vasilevsky, Alex H. Wagner, Jeremy L. Warner, Claus Weiland, The GAGH Phenopacket Modeling Consortium, Melissa A. Haendel & Peter N. Robinson. **The GA4GH Phenopacket schema defines a computable representation of clinical data.** Nature Biotechnology, Vol 40, June 2022, 815–820 (2022). Preprint available [here](https://doi.org/10.1101/2021.11.27.21266944). Paper available [here](https://www.nature.com/articles/s41587-022-01357-4).
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