Publisher Correction: Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI
Pekař, Matej, Jiravský, Otakar, Novák, Jan, Branny, Piotr, Balušík, Jakub, Daniš, Daniel, Hečko, Jan, Kantor, Marek, Prosecky, Robert, Blaha, Lubomir, Neuwirth, Radek
Published in Scientific reports (10.05.2024)
Published in Scientific reports (10.05.2024)
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Journal Article
Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI
Pekař, Matej, Jiravský, Otakar, Novák, Jan, Branny, Piotr, Balušík, Jakub, Daniš, Daniel, Hečko, Jan, Kantor, Marek, Prosecky, Robert, Blaha, Lubomir, Neuwirth, Radek
Published in Scientific reports (17.04.2024)
Published in Scientific reports (17.04.2024)
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Journal Article
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
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.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Journal Article
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
Carmody, Leigh C, Blau, Hannah, Danis, Daniel, Zhang, Xingman A, Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D, Robinson, Peter N
Published in Orphanet journal of rare diseases (04.02.2020)
Published in Orphanet journal of rare diseases (04.02.2020)
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Journal Article
HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis
Karlebach, Guy, Hansen, Peter, Veiga, Diogo Ft, Steinhaus, Robin, Danis, Daniel, Li, Sheng, Anczukow, Olga, Robinson, Peter N
Published in Genome Biology (13.07.2020)
Published in Genome Biology (13.07.2020)
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Journal Article
Phenopacket-tools: Building and validating GA4GH Phenopackets
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
Published in PloS one (17.05.2023)
Published in PloS one (17.05.2023)
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Journal Article
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela
Published in BMC medical genetics (17.05.2019)
Published in BMC medical genetics (17.05.2019)
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
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
Published in Genes (23.04.2020)
Published in Genes (23.04.2020)
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Journal Article
GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution
Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío G, Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter N
Published in BMC genomics (14.01.2019)
Published in BMC genomics (14.01.2019)
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Journal Article
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
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
Published in Genome medicine (28.04.2022)
Published in Genome medicine (28.04.2022)
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Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery
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.
Published in NPJ digital medicine (02.05.2019)
Published in NPJ digital medicine (02.05.2019)
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Journal Article
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Danis, Daniel, Brennerova, Katarina, Skopkova, Martina, Kurdiova, Timea, Ukropec, Jozef, Stanik, Juraj, Kolnikova, Miriam, Gasperikova, Daniela
Published in Endocrine regulations (Bratislava) (01.04.2018)
Published in Endocrine regulations (Bratislava) (01.04.2018)
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Journal Article
GA4GH Phenopackets: A Practical Introduction
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 A., Munoz‐Torres, Monica, Haendel, Melissa A., Robinson, Peter N.
Published in Genetics & genomics next (01.03.2023)
Published in Genetics & genomics next (01.03.2023)
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Journal Article
The Human Phenotype Ontology in 2021
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
Published in Nucleic acids research (08.01.2021)
Published in Nucleic acids research (08.01.2021)
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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 (08.01.2019)
Published in Nucleic acids research (08.01.2019)
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Journal Article
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
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
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Journal Article
Leveraging Clinical Intuition to Improve Accuracy of Phenotype-Driven Prioritization
Beckwith, Martha A, Danis, Daniel, Bridges, Yasemin, Jacobsen, Julius O B, Smedley, Damian, Robinson, Peter N
Published in Genetics in medicine (10.10.2024)
Published in Genetics in medicine (10.10.2024)
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Journal Article
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Jacobsen, Julius O. B., Kelly, Catherine, Cipriani, Valentina, Research Consortium, Genomics England, Mungall, Christopher J., Reese, Justin, Danis, Daniel, Robinson, Peter N., Smedley, Damian
Published in Human mutation (01.08.2022)
Published in Human mutation (01.08.2022)
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Journal Article
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts
Groza, Tudor, Wu, Honghan, Dinger, Marcel E, Danis, Daniel, Hilton, Coleman, Bagley, Anita, Davids, Jon R, Luo, Ling, Lu, Zhiyong, Robinson, Peter N
Published in Bioinformatics (Oxford, England) (01.12.2023)
Published in Bioinformatics (Oxford, England) (01.12.2023)
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