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1.
0 p, 691.1 KB Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity / Haimel, Matthias (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Pazmandi, Julia (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Heredia, Raú Jiménez (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Dmytrus, Jasmin (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Bal, Sevgi Köstel (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Zoghi, Samaneh (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; van Daele, Paul (Erasmus University Medical Center (Rotterdam)) ; Briggs, Tracy A. (University of Manchester) ; Wouters, Carine (University Hospitals Leuven (Bèlgica)) ; Bader-Meunier, Brigitte (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE) (Paris)) ; Aeschlimann, Florence A. (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE),(Paris)) ; Caorsi, Roberta (IRCCS Istituto Giannina Gaslini, Genova) ; Eleftheriou, Despina (Hospital for Children NHS Foundation Trust (London)) ; Hoppenreijs, Esther (Radboud University Medical Centre (Nijmegen)) ; Salzer, Elisabeth (Medical University of Vienna) ; Bakhtiar, Shahrzad (Goethe University) ; Derfalvi, Beata (Dalhousie University/IWK Health Centre Halifax) ; Saettini, Francesco (University of Milano Bicocca) ; Kusters, Maaike A. A. (Hospital for Children NHS Foundation Trust) ; Elfeky, Reem (Hospital for Children NHS Foundation Trust (London)) ; Trück, Johannes (University Children's Hospital Zurich) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; van der Burg, Mirjam (Leiden University Medical Center) ; Gattorno, Marco (IRCCS Istituto Giannina Gaslini (Genova)) ; Seidel, Markus G. (Medical University Graz) ; Burns, Siobhan (Royal Free Hospital NHS Foundation Trust) ; Warnatz, Klaus (University of Freiburg) ; Hauck, Fabian (Ludwig-Maximilians-Universität München (Munich)) ; Brogan, Paul (Hospital for Children NHS Foundation Trust (London)) ; Gilmour, Kimberly C. (Hospital for Children NHS Foundation Trust (London)) ; Schuetz, Catharina (Technische Universität Dresden) ; Simon, Anna (Radboud University Nijmegen Medical Centre) ; Bock, Christoph (Medical University of Vienna) ; Hambleton, Sophie (Newcastle University) ; de Vries, Esther (Elisabeth-Tweesteden Hospital (Tilburg)) ; Robinson, Peter N. (The Jackson Laboratory for Genomic Medicine (Farmington)) ; van Gijn, Marielle (University Medical Center Groningen) ; Boztug, Kaan (Medical University of Vienna) ; Universitat Autònoma de Barcelona
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. [...]
2021 - 10.1016/j.jaci.2021.04.033
The Journal of Allergy and Clinical Immunology, Vol. 149 (may 2021) , p. 369-378  
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2.
10 p, 1.2 MB Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources / Köhler, Sebastian (Monarch Initiative) ; Carmody, Leigh (Jackson Laboratory for Genomic Medicine) ; Vasilevsky, Nicole (Oregon Health and Science University) ; Jacobsen, Julius O. B. (Queen Mary University of London) ; Danis, Daniel (Jackson Laboratory for Genomic Medicine) ; Gourdine, Jean-Philippe (Oregon Health and Science University) ; Gargano, Michael A. (Jackson Laboratory for Genomic Medicine) ; Harris, Nomi (Lawrence Berkeley National Laboratory) ; Matentzoglu, Nicolas (European Bioinformatics Institute) ; McMurry, Julie A. (Oregon State University) ; Osumi-Sutherland, David (European Bioinformatics Institute) ; Cipriani, Valentina (University College of London) ; Balhoff, James P. (University of North Carolina at Chapel Hill) ; Conlin, Tom (Oregon State University) ; Blau, Hannah (Jackson Laboratory for Genomic Medicine) ; Baynam, Gareth (Government of Western Australia) ; Palmer, Richard (Curtin University (Perth, Australia)) ; Gratian, Dylan (Government of Western Australia) ; Dawkins, Hugh (Government of Western Australia) ; Segal, Michael (SimulConsult) ; Jansen, Anna (UZ Brussel) ; Muaz, Ahmed (Darlinghurst) ; Chang, Willie H. (Centre for Computational Medicine. Hospital for Sick Children. Department of Computer Science. University of Toronto) ; Bergerson, Jenna (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Laulederkind, Stanley (Marquette University) ; Yüksel, Z. (Bioscientia GmbH) ; Beltran i Agulló, Sergi (Universitat Pompeu Fabra) ; Freeman, Alexandra F. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Sergouniotis, Panos (University of Manchester. Manchester Royal Eye Hospital) ; Durkin, Daniel (Jackson Laboratory for Genomic Medicine) ; Storm, Andrea L. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Hanauer, Marc (INSERM) ; Brudno, Michael (University of Toronto) ; Bello, Susan (Jackson Laboratory) ; Sincan, Murat (Sanford Health) ; Rageth, Kayli (Sanford Health) ; Wheeler, Matthew T. (Stanford University School of Medicine) ; Oegema, Renske (University Medical Center) ; Lourghi, Halima (INSERM) ; Della Rocca, Maria G. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Thompson, R. (Newcastle University) ; Castellanos, Francisco (Jackson Laboratory for Genomic Medicine) ; Priest, James (Stanford University School of Medicine) ; Cunningham-Rundles, Charlotte (Mount Sinai School of Medicine) ; Hegde, Ayushi (Jackson Laboratory for Genomic Medicine) ; Lovering, Ruth Caroline (University College London) ; Hajek, Catherine (Sanford Imagenetics. Sanford Health) ; Olry, Annie (INSERM) ; Notarangelo, Luigi (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Similuk, Morgan (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Zhang, Xingmin (Jackson Laboratory for Genomic Medicine) ; Gómez-Andrés, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lochmüller, Hanns (Ottawa Hospital Research Institute) ; Dollfus, Hélène (Strasbourg University Hospital) ; Rosenzweig, Sergio (NIH Clinical Center) ; Marwaha, Shruti (Stanford University School of Medicine) ; Rath, Ana (INSERM) ; Sullivan, Kathleen (University of Pennsylvania Perelman School of Medicine) ; Smith, Cynthia (Jackson Laboratory) ; Milner, Joshua D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Leroux, Dorothée (Strasbourg University Hospital) ; Boerkoel, Cornelius (Sanford Health) ; Klion, Amy (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Carter, Melody C. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Groza, Tudor (Darlinghurst) ; Smedley, Damian (Queen Mary University of London) ; Haendel, Melissa Anne (Oregon State University) ; Mungall, Christopher (Lawrence Berkeley National Laboratory) ; Robinson, Peter N. (University of Connecticut) ; Universitat Autònoma de Barcelona
The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. [...]
2019 - 10.1093/nar/gky1105
Nucleic acids research, Vol. 47 Núm. D1 (august 2019) , p. D1018-D1027  
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Vegeu també: autors amb noms similars
1 Robinson, P.
1 Robinson, Patrick
2 Robinson, Peter N.
1 Robinson, Phil
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