Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

por Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.
Publicado 2020

A community effort for COVID-19 Ontology Harmonization

por Lin, Asiyah Yu, Yamagata, Yuki, Duncan, William D., Carmody, Leigh C., Kushida, Tatsuya, Masuya, Hiroshi, Beverley, John, Dutta, Biswanath, DeBellis, Michael, Pendlington, Zoë May, Roncaglia, Paola, He, Yongqun
Publicado 2022

Phenopacket-tools: Building and validating GA4GH Phenopackets

por Danis, Daniel, Jacobsen, Julius O. B., Wagner, Alex H., Groza, Tudor, Beckwith, Martha A., Rekerle, Lauren, Carmody, Leigh C., Reese, Justin, Hegde, Harshad, Ladewig, Markus S., Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L., Rambla, Jordi, Baudis, Michael, Mungall, Christopher J., Haendel, Melissa A., Robinson, Peter N.
Publicado 2023

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

por Carmody, Leigh C, Gargano, Michael A, Toro, Sabrina, Vasilevsky, Nicole A, Adam, Margaret P, Blau, Hannah, Chan, Lauren E, Gomez-Andres, David, Horvath, Rita, Kraus, Megan L, Ladewig, Markus S, Lewis-Smith, David, Lochmüller, Hanns, Matentzoglu, Nicolas A, Munoz-Torres, Monica C, Schuetz, Catharina, Seitz, Berthold, Similuk, Morgan N, Sparks, Teresa N, Strauss, Timmy, Swietlik, Emilia M, Thompson, Rachel, Zhang, Xingmin Aaron, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Publicado 2023

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

por Zhang, Xingmin Aaron, Yates, Amy, Vasilevsky, Nicole, Gourdine, J. P., Callahan, Tiffany J., Carmody, Leigh C., Danis, Daniel, Joachimiak, Marcin P., Ravanmehr, Vida, Pfaff, Emily R., Champion, James, Robasky, Kimberly, Xu, Hao, Fecho, Karamarie, Walton, Nephi A., Zhu, Richard L., Ramsdill, Justin, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., McDonald, Clement J., Vreeman, Daniel J., Peden, David B., Bennett, Tellen D., Feinstein, James A., Martin, Blake, Stefanski, Adrianne L., Hunter, Lawrence E., Chute, Christopher G., Robinson, Peter N.
Publicado 2019

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

por Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, el Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.
Publicado 2022

The Human Phenotype Ontology in 2021

por Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Publicado 2020