Mohamed Chahine

This study shows that a CACNA1D variant causes electrophysiological abnormalities in hiPSC-CMs, which are reversed by AAV6-Cav1.3-C-terminus gene therapy.

The paper identifies a unique cardiac neuronal population expressing calbindin-D28k with distinct electrophysiological properties linked to arrhythmia susceptibility and cardiac pathologies.

This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.