Susan M White

17PUBLICATIONS
147CO-AUTHORS
NeurogeneticsGene mappingGenetic immunologyCancer diagnosisGene expression (incl. microarray and other genome-wide approaches)
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Publications (17)

|Feb 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

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

Teresa Zhao, Kirsten Allan, Juliet Taylor

|Sep 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan

|Jul 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

Susan M White, Annelotte P Wondergem, Isa Breet

|Nov 26, 2024
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

Sarah Casauria, Felicity Collins, Susan M White

|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

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Frequent Collaborators

5 joint publications

Zornitza Stark

3 joint publications

Tiong Yang Tan

2 joint publications

David R Thorburn

2 joint publications

Rocio Rius