Sathiyanarayanan Manivannan

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

Natian and Ryabhatta--graphical user interfaces to create, analyze and visualize single-cell transcriptomic datasets

Natian and Ryabhatta are R Shiny apps that provide a GUI for creating, analyzing, and visualizing single-cell transcriptomic data using the Seurat pipeline, improving accessibility and reducing errors.

Single-cell Transcriptomic Profiling Unveils Cardiac Cell-type Specific Response to Maternal Hyperglycemia Underlying the Risk of Congenital Heart Defects

This study uses single-cell RNA-sequencing to identify how maternal hyperglycemia affects cardiac cell-type specific gene regulation, increasing the risk of congenital heart defects.

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

The paper identifies a novel recessive frameshift variant in MYL2 causing severe infantile-onset HCM and shows molecular differences between recessive and dominant MYL2 variants.