检索结果 - Danis, Daniel

CT Evaluated Sarcopenia Signals: Shorter Survival for Small Cell Lung Cancer Patients 由 PEKAŘOVÁ, Anna, PEKAŘ, Matej, DANIŠ, Daniel, NOVÁKOVÁ, Zuzana

获取全文 获取全文 获取全文

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report 由 Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela

获取全文 获取全文 获取全文

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis 由 Karlebach, Guy, Hansen, Peter, Veiga, Diogo FT, Steinhaus, Robin, Danis, Daniel, Li, Sheng, Anczukow, Olga, Robinson, Peter N

获取全文 获取全文 获取全文

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution 由 Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío G., Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter N.

获取全文 获取全文 获取全文

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes 由 Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.

获取全文 获取全文 获取全文

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants 由 Petrini, Alessandro, Mesiti, Marco, Schubach, Max, Frasca, Marco, Danis, Daniel, Re, Matteo, Grossi, Giuliano, Cappelletti, Luca, Castrignanò, Tiziana, Robinson, Peter N, Valentini, Giorgio

获取全文 获取全文 获取全文

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease 由 Jacobsen, Julius O. B., Kelly, Catherine, Cipriani, Valentina, Research Consortium, Genomics England, Mungall, Christopher J., Reese, Justin, Danis, Daniel, Robinson, Peter N., Smedley, Damian

获取全文 获取全文 获取全文

Interpretable prioritization of splice variants in diagnostic next-generation sequencing 由 Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

获取全文 获取全文 获取全文

Interpretable prioritization of splice variants in diagnostic next-generation sequencing 由 Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

获取全文 获取全文 获取全文

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data 由 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

获取全文 获取全文 获取全文

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing 由 Danis, Daniel, Jacobsen, Julius O. B., Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J., Helbig, Ingo, Mungall, Christopher J., Beck, Christine R., Lee, Charles, Smedley, Damian, Robinson, Peter N.

获取全文 获取全文 获取全文

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics 由 Köhler, Sebastian, Øien, N. Christine, Buske, Orion J, Groza, Tudor, Jacobsen, Julius OB, McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C, Gourdine, JP, Gargano, Michael, McMurry, Julie, Danis, Daniel, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa, Robinson, Peter N

获取全文 获取全文 获取全文

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm 由 Robinson, Peter N., Ravanmehr, Vida, Jacobsen, Julius O.B., Danis, Daniel, Zhang, Xingmin Aaron, Carmody, Leigh C., Gargano, Michael A., Thaxton, Courtney L., Karlebach, Guy, Reese, Justin, Holtgrewe, Manuel, Köhler, Sebastian, McMurry, Julie A., Haendel, Melissa A., Smedley, Damian

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

The Human Phenotype Ontology in 2021 由 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

获取全文 获取全文 获取全文

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources 由 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

获取全文 获取全文 获取全文