Jonathan M. Downie

This study compares droplet-based and picowell-based single-cell RNA sequencing platforms for human colon biopsies, finding differences in cell recovery, typeability, and gene expression consistency.

The paper identifies MFN2 mutations in ALS patients and shows they impair mitochondrial function and increase TDP-43 levels in zebrafish models.

The paper identifies TP73 variants as risk factors for ALS through exome sequencing and functional assays in cell lines and zebrafish.