Prof Tiong Yang Tan
Honorary Clinical Professor
Department of Paediatrics
176 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.
DOI: 10.1159/0005517412026
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.2025.12.0042026
Journal article
Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication
DOI: 10.1038/s44319-026-00727-22025
Journal article
SUN-167 Advancing The Genetic Understanding Of Differences Of Sex Development Through Whole Genome Sequencing
DOI: 10.1210/jendso/bvaf149.20982025
Journal article
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
DOI: 10.1016/j.xhgg.2025.100440
RECENT SCHOLARLY WORKS
2025
Journal article
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
DOI: 10.1016/j.xhgg.2025.1004412025
Journal article
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes (Nature Genetics, (2025), 57, 6, (1362-1366), 10.1038/s41588-025-02209-y)
DOI: 10.1038/s41588-025-02274-32025
Journal article
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
DOI: 10.1038/s41588-025-02209-y