Daniel F. Moakley

This study shows that NOVA1 overexpression in breast cancer disrupts alternative splicing, particularly in genes related to cell communication and cytoskeleton, and is linked to worse outcomes in Luminal A tumors.

The paper estimates splicing factor activity from exon inclusion changes, identifying cancer-related splicing programs and their association with patient survival and cancer hallmarks.

This study shows that primate-specific Ku adaptation suppresses Alu-mediated alternative splicing, maintaining transcriptomic integrity and linking Ku function to brain development and disease.

The paper shows Ku suppresses RNA-mediated innate immune responses in human cells, enabling primate-specific Alu element expansion by reducing dsRNA-induced inflammation.

The paper uses single-cell transcriptomes to reverse engineer splicing-regulatory networks specific to and orthogonal of neuron types, identifying key RNA-binding proteins and regulatory modules.

The paper uses scRNA-seq to analyze alternative splicing regulation across neuronal cell types, revealing distinct splicing programs and RBPs involved in graded regulation.