Janet H. T. Song

This study uses sequence-to-function deep learning to identify lineage-specific cis-regulatory elements in human evolution, finding they are shorter, less conserved, and enriched in neurodevelopmental pathways.

The paper examines a tandem repeat in CACNA1C, showing distinct roles of length and sequence variation in disease risk and gene expression.

The paper shows that pretraining deep neural networks on human genomic data improves prediction accuracy and reduces training time when applied to diverse species and tissues.

The paper investigates a human-specific VNTR in CACNA1C and shows it modulates neuronal calcium responses and transcription programs.

The paper identifies human-specific activity-dependent genes regulated by FOS-bound enhancers, showing their role in human brain development evolution.

The paper uses human-chimpanzee tetraploid cells to identify cis-acting gene regulatory changes contributing to human neural specializations.

This study shows that perturbations of ASD genes in human neural progenitor cells converge on shared transcriptomic effects, with ZFX potentially mediating the female protective effect.

This study uses single nucleus transcriptomics to compare human and non-human primate cortical tissues, identifying human-specific gene expression patterns and their potential functional roles.

This study identifies Cbln1 as a molecular regulator directing thoraco-lumbar axon extension by corticospinal neurons, showing its sufficiency but not necessity for this targeting.

The paper identifies a human-specific tandem repeat in the CACNA1C gene associated with bipolar disorder and schizophrenia risk, showing it functions as an enhancer with variable activity linked to disease.