Tim Schedl

The paper develops a pangenomic method to create a benchmark resource for somatic variant detection using HapMap mixtures, identifying millions of variants across different genomic regions.

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The paper shows ATG-3 limits Orsay virus infection in C. elegans by regulating collagen pathways, independent of autophagic flux.

The paper shows that gap-junctional signaling via innexins controls the positioning of distal somatic cells in C. elegans gonads without affecting germline stem cell boundaries.

The paper functionally validates a de novo PPP5C variant in a human proband using C. elegans, showing it causes loss-of-function and is likely responsible for the patient's phenotypes.

This study identifies Notch signaling in the distal germline as a root cause of reproductive aging in C. elegans by showing that ectopic expression of the Notch effector gene SYGL-1 delays aging.

The paper identifies lst-1 and sygl-1 as primary transcriptional targets of GLP-1 Notch signaling in C. elegans germline stem cells, which mediate stem cell fate and inhibit differentiation.