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Author Details
Full Name
Tudor Groza
Affiliation
Perth Children's Hospital
ORCID
Career Start Year
2012
Papers
56
H Index
20
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
36350656
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Nucleic Acids Res
2023
36305825
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
Nucleic Acids Res
2023
36350656
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Nucleic Acids Res
2023
36399494
PDCM Finder: an open global research platform for patient-derived cancer models.
Nucleic Acids Res
2023
38027298
Surfacing undiagnosed disease: consideration, counting and coding.
Front Pediatr
2023
38001031
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Bioinformatics
2023
37154937
A consensus score to combine inferences from multiple centres.
Mamm Genome
2023
37196000
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One
2023
38027298
Surfacing undiagnosed disease: consideration, counting and coding.
Front Pediatr
2023
38001031
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Bioinformatics
2023
37154937
A consensus score to combine inferences from multiple centres.
Mamm Genome
2023
37196000
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One
2023
36399494
PDCM Finder: an open global research platform for patient-derived cancer models.
Nucleic Acids Res
2023
36305825
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
Nucleic Acids Res
2023
36910590
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
2022
35705716
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
2022
36910590
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
2022
35705716
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
2022
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
32308977
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
F1000Res
2020
32020066
How many rare diseases are there?
Nat Rev Drug Discov
2020
32308977
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
F1000Res
2020
31980565
Impacts of genomics on the health and social costs of intellectual disability.
J Med Genet
2020
33303739
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
NPJ Genom Med
2020
32020066
How many rare diseases are there?
Nat Rev Drug Discov
2020
31980565
Impacts of genomics on the health and social costs of intellectual disability.
J Med Genet
2020
33303739
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
NPJ Genom Med
2020
30476213
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
2019
30476213
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
2019
31479590
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
2019
31479590
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
2019
29425702
Harmonising phenomics information for a better interoperability in the rare disease field.
Eur J Med Genet
2018
30345175
Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records.
PeerJ
2018
29941004
CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.
BMC Med Inform Decis Mak
2018
30652600
Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.
JCO Clin Cancer Inform
2018
29425702
Harmonising phenomics information for a better interoperability in the rare disease field.
Eur J Med Genet
2018
29632381
Plain-language medical vocabulary for precision diagnosis.
Nat Genet
2018
29941004
CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.
BMC Med Inform Decis Mak
2018
30652600
Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.
JCO Clin Cancer Inform
2018
30345175
Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records.
PeerJ
2018
29632381
Plain-language medical vocabulary for precision diagnosis.
Nat Genet
2018
27899602
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
2017
28468665
Initiating an undiagnosed diseases program in the Western Australian public health system.
Orphanet J Rare Dis
2017
29044468
Matchmaker Exchange.
Curr Protoc Hum Genet
2017
29214566
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
2017
27899636
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
2017
27899602
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
2017
1 - 50 of 112
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Damian Smedley
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Julie A McMurry
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Johns Hopkins University School of Medicine
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