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Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
Yepez, V.* et al.: OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using seahorse XF analyzer. PLoS ONE 13:e0199938 (2018)
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)