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EMBO Molecular Medicine|August 26, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnosesRocio Rius, Alison G Compton, Naomi L Baker, et al.Pageof 6