Connor T. Jops

scRBP infers cell-specific RNA-binding protein regulons from single-cell transcriptomes, resolving targets at gene and isoform levels and linking genetic risk to disease.

The paper identifies extensive isoform diversity in the developing human neocortex and links it to neuropsychiatric disorder risk mechanisms.

This study shows KAT6A mutations cause transcriptional dysregulation of cell cycle and autism risk genes in cerebral organoids, leading to delayed neural differentiation and altered gene expression patterns.

GeneticsMakie.jl provides a fast, scalable, and customizable visualization tool for locus-level genetic and genomic data, enabling integration of multiple annotations and association results.

The paper introduces a new statistical method for multivariate variance components models to analyze brain isoform expression and identifies novel psychiatric disease mechanisms.

This paper introduces isoTWAS, a method that improves discovery of genetic risk mechanisms for neuropsychiatric disorders by analyzing isoform-level transcriptome-wide associations.