Lorenzo L. Pesce

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Emerging Activity Patterns and Synaptogenesis in Dissociated Hippocampal Cultures

This study develops an automated synapse quantification algorithm to analyze synaptogenesis in dissociated hippocampal cultures and finds increased synaptic density with maturation and a reduction in excitatory synapses during the third week.

Trajectory analysis of cardiovascular phenotypes from biobank data uncovers novel genetic associations

The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.

Pathogenic and uncertain genetic variants have clinical cardiac correlates in diverse biobank participants