Paul Heinrich

This study investigates factors influencing HCM phenotype penetrance by comparing MYH7 mutations in isogenic hiPSC-CMs and shows that beta-adrenergic stimulation and gene dosage affect disease expression.

The paper benchmarks large language models for cell-type and gene set annotation using AnnDictionary, finding high accuracy in cell-type annotation and strong functional gene set recovery.

This study investigates the effects of the MYH7 G256E mutation on myosin function across multiple scales, finding increased hypercontractility and mitochondrial respiration.