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Author Details

Tudor Groza
Perth Children's Hospital
2012
56
20
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36350656The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic Acids Res2023
36305825The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic Acids Res2023
36350656The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic Acids Res2023
36399494PDCM Finder: an open global research platform for patient-derived cancer models.Nucleic Acids Res2023
38027298Surfacing undiagnosed disease: consideration, counting and coding.Front Pediatr2023
38001031Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.Bioinformatics2023
37154937A consensus score to combine inferences from multiple centres.Mamm Genome2023
37196000Phenopacket-tools: Building and validating GA4GH Phenopackets.PLoS One2023
38027298Surfacing undiagnosed disease: consideration, counting and coding.Front Pediatr2023
38001031Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.Bioinformatics2023
37154937A consensus score to combine inferences from multiple centres.Mamm Genome2023
37196000Phenopacket-tools: Building and validating GA4GH Phenopackets.PLoS One2023
36399494PDCM Finder: an open global research platform for patient-derived cancer models.Nucleic Acids Res2023
36305825The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic Acids Res2023
36910590GA4GH Phenopackets: A Practical Introduction.Adv Genet (Hoboken)2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
36910590GA4GH Phenopackets: A Practical Introduction.Adv Genet (Hoboken)2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
32308977BioHackathon 2015: Semantics of data for life sciences and reproducible research.F1000Res2020
32020066How many rare diseases are there?Nat Rev Drug Discov2020
32308977BioHackathon 2015: Semantics of data for life sciences and reproducible research.F1000Res2020
31980565Impacts of genomics on the health and social costs of intellectual disability.J Med Genet2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
32020066How many rare diseases are there?Nat Rev Drug Discov2020
31980565Impacts of genomics on the health and social costs of intellectual disability.J Med Genet2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31479590Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Curr Protoc Hum Genet2019
31479590Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Curr Protoc Hum Genet2019
29425702Harmonising phenomics information for a better interoperability in the rare disease field.Eur J Med Genet2018
30345175Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records.PeerJ2018
29941004CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.BMC Med Inform Decis Mak2018
30652600Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.JCO Clin Cancer Inform2018
29425702Harmonising phenomics information for a better interoperability in the rare disease field.Eur J Med Genet2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
29941004CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.BMC Med Inform Decis Mak2018
30652600Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.JCO Clin Cancer Inform2018
30345175Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records.PeerJ2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
29044468Matchmaker Exchange.Curr Protoc Hum Genet2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
27899636The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.Nucleic Acids Res2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
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Collaborators

William Harvey Research Institute, Queen Mary University of London
Co-authored papers 22
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 17
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The University of Sydney
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Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 14
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 14
King Edward Memorial Hospital
Co-authored papers 12
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 12
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 12
University of Colorado - Anschutz Medical Campus
Co-authored papers 11
Critical Path Institute
Co-authored papers 9
King's College London
Co-authored papers 8
The University of Notre Dame Australia
Co-authored papers 8
Johns Hopkins University School of Medicine
Co-authored papers 7
Biomedical Research Center, Slovak Academy of Sciences
Co-authored papers 7
INSERM
Co-authored papers 6
European Bioinformatics Institute
Co-authored papers 6
University of Toronto
Co-authored papers 6
Tohoku University Graduate School of Medicine
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 5
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
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Renaissance Computing Institute, University of North Carolina
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Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University
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Institute of Data Science, Maastricht University
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Lawrence Berkeley National Laboratory
Co-authored papers 5
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University of Cambridge
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Renaissance Computing Institute, University of North Carolina
Co-authored papers 4