Natalie B Tan

6PUBLICATIONS
57CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)GenomicsMedical genetics (excl. cancer genetics)
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Publications (6)

|Oct 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Teresa Zhao, Kirsten Allan, Juliet Taylor

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Nov 06, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Thomas Cloney, Lyndon Gallacher, Lynn S Pais

|Jun 29, 2021
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla

|Sep 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Natalie B Tan, Rachel Stapleton, Zornitza Stark

|Feb 14, 2019
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Natalie B Tan, Tiong Yang Tan, Melissa M Martyn

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Frequent Collaborators

5 joint publications

Tiong Yang Tan

2 joint publications

Susan M White

2 joint publications

David R Thorburn

1 joint publications

Alistair T Pagnamenta