Peter Freisinger

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

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.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

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.

Genetic diagnosis of Mendelian disorders via RNA sequencing

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