Tiong Y. Tan - Publications

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report.

Journal: Case reports in pediatrics

Published: March 23, 2026

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.

Journal: American journal of human genetics

Published: November 17, 2025

WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 20, 2025

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2025

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Journal: bioRxiv : the preprint server for biology

Published: August 08, 2025

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Journal: Human mutation

Published: July 28, 2025

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Journal: EMBO reports

Published: July 27, 2025

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.

Journal: Journal of dental research

Published: April 25, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025