Alison G Compton
15PUBLICATIONS
132CO-AUTHORS

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Publications (15)
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|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
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
13 joint publications
David R Thorburn
10 joint publications
John Christodoulou
7 joint publications
Rocio Rius
4 joint publications
Tiong Yang Tan
4 joint publications
Zornitza Stark
3 joint publications
Cas Simons
3 joint publications
Nicole J Lake
2 joint publications
Michael T Ryan
2 joint publications
Gemma R Brett
2 joint publications
Luke E Formosa