檢索結果 - Tudor Groza

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  1. 1
    Identifying scientific artefacts in biomedical literature: The Evidence Based Medicine use case

    Identifying scientific artefacts in biomedical literature: The Evidence Based Medicine use case 由 Hamed Hassanzadeh, Tudor Groza, Jane Hunter

    出版 2014
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  2. 2
    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora 由 Tudor Groza, Sebastian Köhler, Sandra C. Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, Andreas Zankl, Peter N. Robinson

    出版 2015
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  3. 3
    Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

    Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery 由 Chris Mungall, Nicole L. Washington, Jeremy Nguyen-Xuan, Christopher Condit, Damian Smedley, Sebastian Köhler, Tudor Groza, Kent Shefchek, Harry Hochheiser, Peter N. Robinson, Suzanna Lewis, Melissa Haendel

    出版 2015
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  4. 4
    CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital

    CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital 由 Richard Jackson, Ismail E. Kartoglu, Clive Stringer, Genevieve Gorrell, Angus Roberts, Xingyi Song, Honghan Wu, Asha Agrawal, Kenneth Lui, Tudor Groza, Damian Lewsley, Doug Northwood, Amos Folarin, Robert Stewart, Richard Dobson

    出版 2018
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  5. 5
    Matchmaker Exchange

    Matchmaker Exchange 由 Nara Sobreira, Harindra Arachchi, Orion J. Buske, Jessica X. Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O.B. Jacobsen, Melissa Haendel, Kym M. Boycott, Ada Hamosh, Heidi L. Rehm

    出版 2017
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  6. 6
    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease 由 Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L. Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson

    出版 2016
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  7. 7
    The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

    The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease 由 Tudor Groza, Federico López, Hamed Mashhadi, Violeta Muñoz‐Fuentes, Osman Güneş, Robert Wilson, Pilar Cacheiro, Anthony Frost, Piia Keskivali-Bond, Bora Vardal, Aaron McCoy, Tsz Kwan Cheng, Luís Santos, Sara Wells, Damian Smedley, Ann‐Marie Mallon, Helen Parkinson

    出版 2022
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  8. 8
    The digital revolution in phenotyping

    The digital revolution in phenotyping 由 Anika Oellrich, Nigel Collier, Tudor Groza, Dietrich Rebholz‐Schuhmann, Nigam H. Shah, Olivier Bodenreider, Mary Regina Boland, Ivo Georgiev, Hongfang Liu, Kevin Livingston, Augustin Luna, Ann‐Marie Mallon, Prashanti Manda, Peter N. Robinson, Gabriella Rustici, Michelle Simon, Liqin Wang, Rainer Winnenburg, Michel Dumontier

    出版 2015
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  9. 9
    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics 由 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

    出版 2019
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  10. 10
    The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

    The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease 由 Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Żemojtel, Lynn M. Schriml, Warren A. Kibbe, Paul N. Schofield, Tim Beck, Drashtti Vasant, Anthony J. Brookes, Andreas Zankl, Nicole L. Washington, Chris Mungall, Suzanna E. Lewis, Melissa Haendel, Helen Parkinson, Peter N. Robinson

    出版 2015
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  11. 11
    How many rare diseases are there?

    How many rare diseases are there? 由 Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi L. Harris, Heidi L. Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie A. McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxton, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall, Tudor I. Oprea

    出版 2019
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  12. 12
    Global health for rare diseases through primary care

    Global health for rare diseases through primary care 由 Gareth Baynam, Adam L. Hartman, Mary Catherine V. Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Alice Chen Grady, Xinran Dong, Marc Dooms, Lauren Dreyer, Holm Graeßner, Alı́cia Granados, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Tania Vásquez‐Loarte, Birutė Tumienė, Samuel Agyei Wiafe, Heidi Bjornson-Pennell, Stephen C. Groft

    出版 2024
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  13. 13
    Navigating the Phenotype Frontier: The Monarch Initiative

    Navigating the Phenotype Frontier: The Monarch Initiative 由 Julie A. McMurry, Sebastian Köhler, Nicole L. Washington, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad, Erin D. Foster, Jean-Philippe F. Gourdine, Julius O.B. Jacobsen, Daniel Keith, Bryan Laraway, Jeremy Nguyen Xuan, Kent Shefchek, Nicole Vasilevsky, Zhou Yuan, Suzanna Lewis, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel

    出版 2016
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  14. 14
    The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

    The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species 由 Chris Mungall, Julie A. McMurry, Sebastian Köhler, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad, Erin D. Foster, Jean-Philippe F. Gourdine, Julius O.B. Jacobsen, Dan Keith, Bryan Laraway, Suzanna Lewis, Jeremy Nguyen-Xuan, Kent Shefchek, Nicole Vasilevsky, Zhou Yuan, Nicole L. Washington, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Melissa Haendel

    出版 2016
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  15. 15
    The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

    The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource 由 Elliot Sollis, Abayomi Mosaku, Ala Abid, Annalisa Buniello, María Cerezo, Laurent Gil, Tudor Groza, Osman Güneş, Peggy Hall, James Hayhurst, Arwa Ibrahim, Yue Ji, Sajo John, Elizabeth Lewis, Jacqueline MacArthur, Aoife McMahon, David Osumi-Sutherland, Kalliope Panoutsopoulou, Zoë May Pendlington, Santhi Ramachandran, Ray Stefancsik, Jonathan Stewart, Patricia L. Whetzel, Robert Wilson, Lucia A. Hindorff, Fiona Cunningham, Samuel A. Lambert, Michael Inouye, Helen Parkinson, Laura W. Harris

    出版 2022
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  16. 16
    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 由 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

    出版 2024
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    Pré-impressão
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  17. 17
    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 由 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

    出版 2024
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  18. 18
    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species 由 Kent Shefchek, Nomi L. Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Matthew Brush, Daniel Keith, Tom Conlin, Nicole Vasilevsky, Xingmin Zhang, James P. Balhoff, Lawrence Babb, Susan M. Bello, Hannah Blau, Yvonne M. Bradford, Seth Carbon, Leigh Carmody, Lauren Chan, Valentina Cipriani, Alayne Cuzick, Maria Della Rocca, Nathan Dunn, Shahim Essaid, Petra Fey, Chris Grove, Jean-Phillipe Gourdine, Ada Hamosh, Midori A. Harris, Ingo Helbig, Maureen E. Hoatlin, Marcin P. Joachimiak, Simon Jupp, Kenneth B Lett, Suzanna Lewis, Craig McNamara, Zoë May Pendlington, Clare Pilgrim, Tim Putman, Vida Ravanmehr, Justin Reese, Erin Rooney Riggs, Sofia Robb, Paola Roncaglia, James Seager, Erik Segerdell, Morgan Similuk, Andrea L. Storm, Courtney Thaxon, Anne Thessen, Julius O.B. Jacobsen, Julie A. McMurry, Tudor Groza, Sebastian Köhler, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel, Monica Muñoz‐Torres, David Osumi-Sutherland

    出版 2019
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  19. 19
    The Human Phenotype Ontology in 2017

    The Human Phenotype Ontology in 2017 由 Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, Erin D. Foster, Julie A. McMurry, Ségolène Aymé, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh Dawkins, Laura E. DeMare, A. Devereau, Bert B.A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna Jähn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmüller, Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael M. Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, C. Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Żemojtel, Julius O.B. Jacobsen, Tudor Groza, Damian Smedley, Chris Mungall, Melissa Haendel, Peter N. Robinson

    出版 2016
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  20. 20
    The GA4GH Phenopacket schema defines a computable representation of clinical data

    The GA4GH Phenopacket schema defines a computable representation of clinical data 由 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

    出版 2022
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