Gareth S. Baynam

Gareth S. Baynam

15 Hospital Ave
Nedlands, WA 6009, Australia

Last Updated: 09/26/2026

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Found 189 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

Language in rare disease: a call for systemic and empathetic action.

Language in rare disease: a call for systemic and empathetic action.

Journal: Lancet (London, England)

Published: February 09, 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

Fostering equity in precision health through diverse 3D facial data.

Fostering equity in precision health through diverse 3D facial data.

Journal: Frontiers in medical technology

Published: October 02, 2025

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Journal: Human genomics

Published: October 02, 2025

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia.

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia.

Journal: Orphanet journal of rare diseases

Published: September 24, 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

A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.

A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.

Journal: IEEE access : practical innovations, open solutions

Published: August 14, 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

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Journal: Therapeutic advances in rare disease

Published: June 20, 2025

Etiology of Severe Microcephaly in Infants: A Multinational Surveillance Study.

Etiology of Severe Microcephaly in Infants: A Multinational Surveillance Study.

Journal: Pediatrics

Published: May 27, 2025

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Journal: Molecular medicine (Cambridge, Mass.)

Published: May 23, 2025

Showing 1-12 of 189

Last Updated: 09/26/2026