Prof Tiong Yang Tan
Honorary Clinical Professor
Department of Paediatrics
183 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population
DOI: 10.1093/hmg/ddag0892026
Journal article
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders
DOI: 10.1016/j.gim.2026.1027172026
Journal article
WT1 Deletion in 46, XY DSD: The Importance of Copy Number Variant Analysis
DOI: 10.1159/0005517412026
Journal article
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
DOI: 10.64898/2026.06.22.263562382026
Journal article
Advancing the genetic understanding of differences of sex development through whole genome sequencing
DOI: 10.1530/endoabs.118.po472026
Journal article
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis
DOI: 10.1016/j.gim.2026.1025852026
Journal article
Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication
DOI: 10.1038/s44319-026-00727-2
RECENT SCHOLARLY WORKS
2026
Journal article
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education
DOI: 10.1016/j.ajhg.2026.01.0092026
Journal article
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
DOI: 10.1002/ajmg.a.642872026
Journal article
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
DOI: 10.1016/j.ajhg.2025.12.004