Publications
Selected publications: clinically relevant variant interpretation in ancestrally diverse Asian populations, population-scale sequencing, and translational genomics.
Selected
Chan SH, Bylstra Y, Teo JX, et al. (2022)
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Nature Communications, 13:6694.
9,051 whole genomes from East, South, and Southeast Asian ancestries analysed; identified population-specific pathogenic variants and highlighted gaps in current screening panels.
Selected
Chan SH, Iness AN, Rosenfeld JA, et al. (2026)
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
The American Journal of Human Genetics.
Bi-allelic loss-of-function variants in TMEM63B define a previously unrecognised recessive syndromic surfactant dysfunction disorder causing severe lung disease.
Selected
Lieviant JA, Chan CM, Bylstra Y, et al. (2025)
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
European Journal of Human Genetics, 33(12):1627-1635.
Whole-exome sequencing of 506 inherited retinal disease probands: overall diagnostic yield of 49.2%, shaped by age of onset, family history, and initial clinical diagnosis.
Selected
Lim WK, Ong CK, Tan J, et al. (2014)
Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
Nature Genetics, 46(8):877-880.
Exome sequencing of breast fibroadenomas identified highly recurrent somatic MED12 mutations, implicating the Mediator complex in benign breast tumours.
Seow SW, Mina T, Hebrard M, et al. (2026)
Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.
Nature Genetics, 58(8):1760-1772.
Singapore's phase-II national precision medicine programme, built on whole-genome sequencing of 102,202 Singaporeans across major Asian ancestries and integrated with linked health records.
Tan JHJ, Li Z, Porta MG, Rajaby R, Lim WK, et al. (2024)
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.
Nature Communications, 15:9507.
A structural-variant catalogue spanning ancestrally diverse Asian genomes, expanding representation beyond largely Eurocentric structural variation studies.
Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WK, et al. (2023)
The Singapore National Precision Medicine Strategy.
Nature Genetics, 55(2):178-186.
Sets out the national strategy behind Singapore's precision medicine programme, from genomic data infrastructure and population-scale cohorts to clinical integration and governance.
Bylstra Y, Lim WK, Kam S, et al. (2021)
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
Genome Medicine, 13:3.
Systematic family-history assessment substantially increases the identification of clinically actionable findings in precision medicine delivery.
Jusakul A, Cutcutache I, Yong CH, et al. (2017)
Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma.
Cancer Discovery, 7(10):1116-1135.
Whole-genome and epigenomic profiling defined distinct molecular subtypes of cholangiocarcinoma linked to liver fluke infection.
Tan J, Ong CK, Lim WK, et al. (2015)
Genomic landscapes of breast fibroepithelial tumors.
Nature Genetics, 47(11):1341-1345.
Genomic analysis across the fibroepithelial tumour spectrum, from benign fibroadenomas to malignant phyllodes tumours.
Full Publication List
Additional publications (including consortium and collaborative work) are available on Google Scholar.