Johannes A. Mayr

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 566 citations · Full text

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Lindsey Van Haute, Sabine Dietmann, Laura S. Kremer et al. · Nature Communications · 2016 · 245 citations · Full text

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf et al. · The American Journal of Human Genetics · 2012 · 218 citations · Full text

Mitophagy, Signal Transduction, Mitochondrial Function +7

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

Serine Catabolism Feeds NADH when Respiration Is Impaired

Lifeng Yang, Juan Carlos García‐Cañaveras, Zihong Chen et al. · Cell Metabolism · 2020 · 196 citations · Full text

Animal Physiology, Energy Metabolism, Biochemistry +7