Author

J. Peterson

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Review Open access Sep 2026

Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.

Mitochondria are critical cellular organelles engaged in energy production, diverse intermediary metabolic functions and signaling. Inherited genetic disorders directly affecting mitochondrial structure and/or function, known collectively as primary mitochondrial diseases, are among the most complex and heterogeneous i...

M. Kose, E. McCormick, J. Peterson et al. · Disease Models & Mechanisms · 0 citations

Open access Sep 2026

Characterization of Large-Scale Mitochondrial DNA Rearrangements Using Complementary Short- and Long-Read Sequencing Approaches

Background: Large-scale mitochondrial DNA (mtDNA) rearrangement, including deletion or duplication, is one of the important causes of primary mitochondrial disease. In clinical practice, short-read sequencing (SRS)-based assays typically detect these rearrangements by identifying regional mtDNA copy-number changes but...

Jing Wang, Joe Chan, Mian Umair Ahsan et al. · Genes · 0 citations