Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 114 publications
Publisher Correction: Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.
Journal: Nature genetics
Published: August 19, 2026
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.
Journal: The New England journal of medicine
Published: June 29, 2026
Reimagining care of people living with rare diseases with artificial intelligence.
Journal: PLoS medicine
Published: February 26, 2026
C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: February 25, 2026
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.
Journal: Frontiers in medical technology
Published: October 02, 2025
Expanding carrier screening: beyond the genes, to include underrepresented ancestries.
Journal: NPJ genomic medicine
Published: July 28, 2025
Translating multi-omics into healthcare: requisites for scalable and equitable implementation.
Journal: Human genomics
Published: June 24, 2025
Advancing precision medicine: the case for monogenic diabetes mellitus in Singapore.
Journal: Singapore medical journal
Published: May 13, 2025
Information content as a health system screening tool for rare diseases.
Journal: NPJ digital medicine
Published: April 29, 2025
Case of de-novo variant in CDH2 with novel findings: a case report and review of literature.
Journal: Clinical dysmorphology
Published: April 28, 2025
Last Updated: 09/26/2026