Tudor Groza

St
Lucia, QLD 4072, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 76 publications

Reimagining care of people living with rare diseases with artificial intelligence.

Reimagining care of people living with rare diseases with artificial intelligence.

Journal: PLoS medicine

Published: February 26, 2026

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

Journal: HGG advances

Published: November 04, 2025

The United Nations convention on rare diseases-A framework for research prioritization.

The United Nations convention on rare diseases-A framework for research prioritization.

Journal: Frontiers in public health

Published: September 16, 2025

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Journal: Human genomics

Published: June 24, 2025

Mondo: integrating disease terminology across communities.

Mondo: integrating disease terminology across communities.

Journal: Genetics

Published: May 30, 2025

Information content as a health system screening tool for rare diseases.

Information content as a health system screening tool for rare diseases.

Journal: NPJ digital medicine

Published: April 29, 2025

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Journal: American journal of human genetics

Published: April 08, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Journal: medRxiv : the preprint server for health sciences

Published: March 17, 2025

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case.

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case.

Journal: American journal of human genetics

Published: October 26, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics

Published: October 21, 2024

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.

Journal: medRxiv : the preprint server for health sciences

Published: June 10, 2024

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.

Journal: HGG advances

Published: May 29, 2024

Showing 1-12 of 76

Last Updated: 09/26/2026