نتائج البحث - Daniel Danis

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  1. 1
    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

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

    منشور في 2022
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    Revisão
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  2. 2
    Interpretable prioritization of splice variants in diagnostic next-generation sequencing

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

    منشور في 2021
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    Artigo
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  3. 3
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data حسب Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    منشور في 2020
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    Artigo
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  4. 4
    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

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

    منشور في 2022
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    Artigo
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  5. 5
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

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

    منشور في 2020
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    Artigo
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  6. 6
    An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

    An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets حسب Adam S.L. Graefe, Miriam Hübner, Filip Rehburg, Stanley P. Sander, Sophie Anne Inès Klopfenstein, Samer Alkarkoukly, Ana Grönke, Annic Weyersberg, Daniel Daniš, Jana Zschüntzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kühnen, Peter N. Robinson, Oya Beyan, Sylvia Thun

    منشور في 2025
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    Artigo
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  7. 7
    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics حسب Sebastian Köhler, Nancy Christine Øien, Orion J. Buske, Tudor Groza, Julius O.B. Jacobsen, Craig McNamara, Nicole Vasilevsky, Leigh Carmody, Jean-Philippe F. Gourdine, Michael Gargano, Julie A. McMurry, Daniel Daniš, Chris Mungall, Damian Smedley, Melissa Haendel, Peter N. Robinson

    منشور في 2019
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    Artigo
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  8. 8
    Predicting the impact of rare variants on RNA splicing in CAGI6

    Predicting the impact of rare variants on RNA splicing in CAGI6 حسب Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Daniš, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Yu‐Chen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiao‐Feng Lin, Thomas van Overeem Hansen, Raphaël Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle

    منشور في 2024
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    Artigo
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  9. 9
    Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

    Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery حسب Xingmin Zhang, Amy Yates, Nicole Vasilevsky, Jean-Philippe F. Gourdine, Tiffany J Callahan, Leigh Carmody, Daniel Daniš, Marcin P. Joachimiak, Vida Ravanmehr, Emily Pfaff, James Champion, Kimberly Robasky, Hao Xu, Karamarie Fecho, Nephi Walton, Richard L. Zhu, Justin Ramsdill, Chris Mungall, Sebastian Köhler, Melissa Haendel, Clement J. McDonald, Daniel J. Vreeman, David B. Peden, Tellen D. Bennett, James A. Feinstein, Blake Martin, Adrianne L. Stefanski, Lawrence Hunter, Christopher G. Chute, Peter N. Robinson

    منشور في 2019
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    Artigo
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  10. 10
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery حسب Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    منشور في 2024
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    Pré-impressão
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  11. 11
    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery حسب Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica C. Munoz-Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    منشور في 2024
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    Artigo
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  12. 12
    The Human Phenotype Ontology in 2021

    The Human Phenotype Ontology in 2021 حسب Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh Carmody, David Lewis‐Smith, Nicole Vasilevsky, Daniel Daniš, Ganna Balagura, Gareth Baynam, Amy Brower, Tiffany J Callahan, Christopher G. Chute, Johanna L Est, Peter D. Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Júlia Pázmándi, Marc Hanauer, Nomi L. Harris, M. J. Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A. McMurry, Jillian A. Miller, Monica Muñoz‐Torres, Rebecca L. Peters, Christina Rapp, Ana Rath, Shahmir A Rind, Avi Z. Rosenberg, Michael M. Segal, Markus G. Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel Agyei Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Chris Mungall, Melissa Haendel, Peter N. Robinson

    منشور في 2020
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    Artigo
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  13. 13
    The GA4GH Phenopacket schema defines a computable representation of clinical data

    The GA4GH Phenopacket schema defines a computable representation of clinical data حسب Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, K. C. Kent Lloyd, Aly Khalifa, Peter Krawitz, Sebastian Köhler, Bryan Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A. McMurry, Alejandro Metke‐Jimenez, Chris Mungall, Monica Muñoz‐Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosiñach, Marco Roos, Julian Saß, Paul N. Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M. Swietlik, Sylvia Thun, Nicole Vasilevsky, Alex H. Wagner, Jeremy L. Warner, Claus Weiland, Myles Axton, Lawrence Babb, Cornelius F. Boerkoel, Bimal P. Chaudhari, Hui‐Lin Chin, Michel Dumontier, Nour Gazzaz, David Hansen, Harry Hochheiser, Veronica A. Kinsler, Hanns Lochmüller, Alexander Mankovich, Gary Saunders, Panagiotis I. Sergouniotis, Rachel Thompson, Andreas Zankl, Melissa Haendel, Peter N. Robinson

    منشور في 2022
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    Carta
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  14. 14
    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources حسب Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O.B. Jacobsen, Daniel Daniš, Jean-Philippe F. Gourdine, Michael Gargano, Nomi L. Harris, Nicolas Matentzoglu, Julie A. McMurry, David Osumi-Sutherland, Valentina Cipriani, James P. Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, R. Palmer, Dylan Gratian, Hugh Dawkins, Michael M. Segal, Anna Jansen, Ahmed Muaz, Willie Chang, Jenna Bergerson, Stanley J. F. Laulederkind, Zafer Yüksel, Sergi Beltrán, Alexandra F. Freeman, Panagiotis I. Sergouniotis, Daniel W. Durkin, Andrea L. Storm, Marc Hanauer, Michael Brudno, Susan M. Bello, Murat Sincan, Kayli Rageth, Matthew T. Wheeler, Renske Oegema, Halima Lourghi, Maria G. Della Rocca, Rachel Thompson, F Castellanos, James R. Priest, Charlotte Cunningham‐Rundles, Ayushi Hegde, Ruth C. Lovering, Catherine Hajek, Annie Olry, Luigi D. Notarangelo, Morgan Similuk, Xingmin Zhang, David Gómez‐Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio D. Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen E. Sullivan, Cynthia L. Smith, Joshua D. Milner, Dorothée Leroux, Cornelius F. Boerkoel, Amy D. Klion, Melody C. Carter, Tudor Groza, Damian Smedley, Melissa Haendel, Chris Mungall, Peter N. Robinson

    منشور في 2018
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    Artigo
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  15. 15
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data حسب Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    منشور في 2021
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    Artigo
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  16. 16
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses حسب Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    منشور في 2025
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    Artigo
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