Manting Xu

RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease

This study uses RNA sequencing to identify pathogenic variants in mitochondrial disease patients who were undiagnosed by DNA sequencing, revealing cryptic splicing and regulatory events.

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.