Alison G Compton

14PUBLICATIONS
130CO-AUTHORS
Medical infection agents (incl. prions)Medical biotechnology diagnostics (incl. biosensors)Cell and nuclear divisionNeurology and neuromuscular diseasesInfant and child health
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Publications (14)

|Apr 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

|Feb 26, 2026
Mainstreaming genomic testing for mitochondrial disease in Australia.

Megan Ball, Naomi Baker, Sze Chern Lim

|Oct 16, 2024
Quantifying constraint in the human mitochondrial genome.

Nicole J Lake, Kaiyue Ma, Wei Liu

|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Jun 08, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Sebastian Lunke, Sophie E Bouffler, Chirag V Patel

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Frequent Collaborators

13 joint publications

David R Thorburn

10 joint publications

John Christodoulou

7 joint publications

Rocio Rius

4 joint publications

Tiong Yang Tan