Jing X. Teo

Singapore, 169609, Singapore

Last Updated: 09/26/2026

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Found 30 publications

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Journal: American journal of human genetics

Published: January 29, 2026

Expanding carrier screening: beyond the genes, to include underrepresented ancestries.

Expanding carrier screening: beyond the genes, to include underrepresented ancestries.

Journal: NPJ genomic medicine

Published: July 28, 2025

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Journal: European journal of human genetics : EJHG

Published: April 25, 2025

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

Journal: Clinical dysmorphology

Published: February 13, 2025

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Journal: BMC neurology

Published: December 05, 2024

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Journal: European journal of human genetics : EJHG

Published: September 03, 2024

Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

Journal: Clinical dysmorphology

Published: August 14, 2024

Transcriptomic convergence despite genomic divergence drive field cancerization in synchronous squamous tumors.

Transcriptomic convergence despite genomic divergence drive field cancerization in synchronous squamous tumors.

Journal: Frontiers in oncology

Published: August 04, 2023

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: May 25, 2023

DEGS1 -related leukodystrophy: a clinical report and review of literature.

DEGS1 -related leukodystrophy: a clinical report and review of literature.

Journal: Clinical dysmorphology

Published: May 17, 2023

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.

Journal: Nature communications

Published: May 29, 2022

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Journal: Nature communications

Published: April 14, 2022

Showing 1-12 of 30

Last Updated: 09/26/2026