Andy Golden

This study shows that elevated temperature worsens arrhythmia and seizures in a zebrafish model of Timothy syndrome, suggesting fever may increase risk for TS patients.

This study describes the first natural history of Timothy syndrome, identifying common extra-cardiac features beyond cardiac issues.

This study identifies genetic suppressors of a BSCL2 pathogenic variant in C. elegans, revealing potential interactors and pathways involved in seipin function.

This study identifies gex-3 as a suppressor of a PIEZO-1 gain-of-function mutation in C. elegans, revealing a role for the cytoskeleton in regulating PIEZO channel activity.

The paper identifies genetic pathways regulating adult reproductive diapause in C. elegans through a candidate-based genetic screen, revealing roles for fatty acid metabolism, sirtuins, and the O-GlcNAc pathway in initiation and TOR in recovery.

The paper identifies genes that regulate microtubule glutamylation and ciliary integrity in C. elegans, showing their role in preventing neuronal ciliary degeneration.

This study identifies PEZO-1 as critical for ovulation and fertilization in C. elegans by coordinating reproductive tissues through mechanical sensing and calcium signaling.

This paper develops strategies for identifying challenging mutations using whole-genome sequencing in C. elegans, including methods for dominant alleles and multigenic traits.