Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, Robinson, Peter N
Published in Nucleic acids research (08.01.2019)
Published in Nucleic acids research (08.01.2019)
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Plain-language medical vocabulary for precision diagnosis
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Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
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Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Chen, Faye H., Hartman, Adam L., Letinturier, Mary Catherine V., Antoniadou, Victoria, Baynam, Gareth, Bloom, Lara, Crimi, Marco, Della Rocca, Maria G., Didato, Giuseppe, Houge, Sofia Douzgou, Jonker, Anneliene, Kawome, Martina, Mueller, Friederike, O'Brien, James, Puri, Ratna Dua, Ryan, Nuala, Thong, Meow-Keong, Tumienė, Birutė, Parisi, Melissa A.
Published in European journal of medical genetics (01.12.2024)
Published in European journal of medical genetics (01.12.2024)
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Journal Article
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L., Matentzoglu, Nicolas, McMurry, Julie A., Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P., Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C., Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F., Sergouniotis, Panagiotis I., Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan M., Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C., Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A., Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius F., Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa A., Mungall, Chris, Robinson, Peter N.
Published in Nucleic acids research (22.11.2018)
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Published in Nucleic acids research (22.11.2018)
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