AC
Alison G. Compton
Murdoch Children's Research Institute, Children's Hospital at Westmead
Research areas: Biochemistry, Genetics and Molecular Biology · Clinical Biochemistry · Metabolism and Genetic Disorders · Mitochondrial Function and Pathology · Genomics and Rare Diseases
0000-0002-2725-7055
Employment
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Murdoch Children's Research Institute Team Leader / Senior Postdoctoral Fellow2008 - Present
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Children's Hospital at Westmead Postdoctoral Scientist2005 - 2007
Education
Education history is unavailable.
Projects & Funding
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Unravelling mitochondrial ATAD3 as an underappreciated cause of rare disease National Health and Medical Research Council2026 - 2029
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Deciphering the pathogenetics of rare diseases by multi-omic approaches: disorders of mitochondrial energy generation as an exemplar National Health and Medical Research Council2019 - Present
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A cohorts-based approach to define monogenic causes of mitochondrial disease National Health and Medical Research Council2014 - 2016
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Transforming the diagnosis of mitochondrial disorders using high-throughput sequencing, functional prediction and experimental validation National Health and Medical Research Council2012 - 2014
Publications (62)
- The role of mitochondrial dysfunction and genetics in female infertility and premature ovarian insufficiency Save
- Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics Save
- Mainstreaming genomic testing for mitochondrial disease in Australia Save
- The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses Save
- Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases Save
- Quantifying constraint in the human mitochondrial genome Save
- Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing. Save
- Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases Save
- De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Save
- Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease. Save
- Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population. Save
- A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes Save
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency Save
- Integrated multi-omics for rapid rare disease diagnosis on a national scale Save
- Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease Save
- Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy Save
- Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies Save
- Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder Save
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Save