Prof Tiong Yang Tan
Honorary Clinical Professor
Department of Paediatrics
178 Scholarly works
0 Projects
HIGHLIGHTS
2026
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
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/s44319-026-00727-22026
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
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis
DOI: 10.1159/000551741
RECENT SCHOLARLY WORKS
2025
Conference Proceedings
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.2025.1004402025
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.2025.100441