Feichtinger RG, Oláhová M, Kishita Y, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017;101(4):525-538. doi:10.1016/j.ajhg.2017.08.015.

Lake NJ, Webb BD, Stroud DA, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239-254. doi:10.1016/j.ajhg.2017.07.005.

Sidhom E-H, Kim C, Kost-Alimova M, et al. Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease. J Clin Invest. 2021;131(5). doi:10.1172/JCI141380.

Calvo S, Jain M, Xie X, et al. Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet. 2006;38(5):576-82. doi:10.1038/ng1776.

Shaham O, Slate NG, Goldberger O, et al. A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proc Natl Acad Sci U S A. 2010;107(4):1571-5. doi:10.1073/pnas.0906039107.

Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature. 2012;491(7424):374-83. doi:10.1038/nature11707.

Lieber DS, Calvo SE, Shanahan K, et al. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013;80(19):1762-70. doi:10.1212/WNL.0b013e3182918c40.

Wolf AR, Mootha VK. Functional genomic analysis of human mitochondrial RNA processing. Cell Rep. 2014;7(3):918-31. doi:10.1016/j.celrep.2014.03.035.

Edwards MD, Symbor-Nagrabska A, Dollard L, Gifford DK, Fink GR. Interactions between chromosomal and nonchromosomal elements reveal missing heritability. Proc Natl Acad Sci U S A. 2014;111(21):7719-22. doi:10.1073/pnas.1407126111.

Nakayama T, Al-Maawali A, El-Quessny M, et al. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015;96(5):709-19. doi:10.1016/j.ajhg.2015.03.003.