Johannes A. Mayr

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 255 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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

Life Sciences, Cell Biology, Molecular Genetics +10

Serine Catabolism Feeds NADH when Respiration Is Impaired

Lifeng Yang, Juan Carlos García‐Cañaveras, Zihong Chen et al. · Cell Metabolism · 2020 · 213 citations · Full text

Life Sciences, Biochemistry, Physiology +12

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17