Sampathkumar Rangasamy

This study uses zebrafish to examine the effects of CSNK2A1 mutations on morphology, showing a link between genetic changes and phenotypes, with partial rescue by wild-type mRNA.

The paper identifies gene regulatory network disruptions caused by LSD1 mutations in early differentiation, showing impaired transcription factor activity and potential therapeutic targets through HDAC inhibition.

Bisbee detects differential splicing and identifies splice outliers with improved sensitivity and specificity using proteomics validated methods.

The paper identifies genes associated with Rett syndrome-like (RTT-L) phenotype through whole exome sequencing and protein-protein interaction network analysis, revealing shared pathways with classical Rett syndrome.