Susen Schaake

This study uses long-read sequencing to accurately detect low-frequency mitochondrial heteroplasmy in Parkinson's disease patients and carriers.

This study compares long-read sequencing and optical genome mapping in detecting structural variants in Parkinson's disease, finding OGM better detects large variants while ONT provides high-resolution refinement.

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

The paper evaluates Oxford Nanopore sequencing for detecting GBA variants in Parkinson's disease patients and controls, finding high true-positive rates and identifying two pathogenic variants.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

This study uses Nanopore sequencing to analyze mtDNA methylation in human blood samples, finding low-level methylation across the genome but noting challenges with Guppy calling affecting results.