Akula Bala Pramod

This study uses cortical organoids derived from patients with 16p11.2 CNV to show altered neurodevelopmental processes, including changes in organoid size, neuronal maturation, and migration.

The paper analyzes full-length splicing isoforms in the developing human brain to identify isoform-level changes associated with neurodevelopmental disorders and highlights the importance of studying mutations at the isoform level.

This study shows that Cul3 haploinsufficiency in mice causes social and cognitive deficits, cortical volume reduction, and cytoskeletal defects, which are rescued by RhoA inhibition.

PRESTO integrates large-scale -omics data and identifies disease-specific gene signatures through unsupervised dimensionality reduction and visualization.