Johannes Adalbert Mayr

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

The paper identifies TXNIP as a regulator of amino acid uptake during cellular quiescence by mediating endocytosis of the LAT1/SLC7A5 transporter.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

This study shows SURF1 mutations impair human neurogenesis by generating patient-derived iPS cells and demonstrating defects in neuronal differentiation and bioenergetics.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.