Thomas Klopstock

This paper introduces a method to quantitatively assess viral transduction efficiency in living human retinal organoids using 3D imaging and deep learning.

This study investigates the association between HTT CAG repeat size variations and psychiatric phenotypes and basal ganglia structure in non-HD ranges, finding age-dependent effects on anxiety and depression risk.

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

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.

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.

This study shows that Wt1 deletion in mice leads to altered interneuron composition and locomotion defects.