Stefan Kölker

This study investigates how MMUT deficiency affects mitochondrial energy production in different cell types and variants, finding cell-type and variant-dependent effects.

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

The paper develops a multi-dimensional framework for genomic newborn screening programs by defining criteria across clinical, diagnostic, therapeutic, and program management aspects.

This meta-analysis evaluates the impact of newborn screening on mortality and neurocognitive outcomes in classic isovaleric aciduria, finding reduced symptoms and mortality but not complete prevention of decompensation.

The paper develops dynamic whole-body models for infants to simulate metabolism and predict biomarker concentrations, showing they exceed newborn screening thresholds for isovaleric aciduria.

aRgus provides a webtool for visualizing and analyzing non-synonymous variants with pathogenicity scoring to assess genetic vulnerability.

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.

The paper analyzes FDA orphan drug designations for lysosomal storage disorders, showing growth in approved therapies and diversification into small molecules and gene therapy.