Gijs W van Haaften

This study shows that fasting improves PLN R14del cardiomyopathy by restoring lysosomal function and reducing SR-derived vesicle accumulation.

This study analyzes SMN2 DNA methylation in SMA patients and finds no association with disease severity or treatment response, but identifies age-related methylation changes.

The paper identifies candidate genes for developmental colour agnosia in a family through exome sequencing and linkage analysis.

This paper introduces FUDGE, a method for detecting fusion genes using CRISPR/Cas9 enrichment and long-read sequencing, achieving high sensitivity and specificity across various cancer types.