Dr Alison G Compton
Honorary (Senior Fellow)
Department of Paediatrics
78 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Antenatal Presentation of MRPS22 ‐Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
Journal article
Mainstreaming genomic testing for mitochondrial disease in Australia
DOI: 10.1038/s41431-026-02053-62025
Journal article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
DOI: 10.1186/s13073-025-01467-z2025
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.2025.1004412025
Journal article
Therapies for Mitochondrial Disease: Past, Present, and Future
DOI: 10.1002/jimd.700652025
Journal article
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
DOI: 10.1016/j.gim.2024.1012712025
Journal article
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
DOI: 10.1016/j.gim.2024.101293
RECENT SCHOLARLY WORKS
2024
Journal article
Quantifying constraint in the human mitochondrial genome
DOI: 10.1038/s41586-024-08048-x2024
Journal article
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
DOI: 10.1038/s41586-024-07773-72024
Journal article
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
DOI: 10.1016/j.ymgme.2024.108508