Classification, Ontology, and Precision Medicine

• RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

  2025 npj Genomic Medicine article Health Professions Electronic Health Records Systems Open access

  4

  citations
• Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

  2025 medRxiv preprint Health Professions Electronic Health Records Systems Open access

  1

  citations
• Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  2

  citations
• A framework for sharing of clinical and genetic data for precision medicine applications

  2024 Nature Medicine article Computer Science Blockchain Technology Applications and Security Open access

  37

  citations
• Precision Medicine Using Pharmacogenomic Panel-Testing

  2022 Clinics in Laboratory Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism

  3

  citations
• The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

  2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

  14

  citations
• Swarm Learning for decentralized and confidential clinical machine learning

  2021 Nature article Computer Science Privacy-Preserving Technologies in Data Open access cited by 9 patents

  901

  citations
• Precision Medicine Using Pharmacogenomic Panel-Testing

  2020 Advances in Molecular Pathology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  2

  citations
• The case for open science: rare diseases

  2020 JAMIA Open article Computer Science Research Data Management Practices Open access

  63

  citations
• Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

  2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access

  47

  citations
• Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study

  2020 Pharmacogenetics and Genomics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  44

  citations

11 results