Joan M. O’Brien

This study maps POAG risk variants to candidate effector genes in ocular cell types, identifying ARHGEF12 as a potential target.

The paper maps phenotypic and genetic links between plasma proteins and organ imaging traits using UK Biobank data, identifying associations and causal links across multiple organs.

The paper identifies rare protein-coding variants associated with multi-organ MRI traits using exome-wide association analysis in the UK Biobank.

The paper investigates organ-specific and modality-specific aging clocks using proteomic and imaging data, revealing distinct biological processes and their roles in age-related diseases.

This paper identifies shared and unique chromatin accessibility and 3D interactions of SUD loci, implicating non-neural cell types like pancreatic β-cells and showing a causal link between T2D and AUD.

This paper shows that Piezo1 and Piezo2 channels are expressed in retinal ganglion cells and that their activation increases light-dependent neural activity and excitability, potentially linking to glaucoma progression.

This study develops a reproducible method to differentiate iPSCs into RGCs with high purity using dual SMAD and Wnt pathway inhibition.

The paper identifies a novel POAG-associated SNP in African Americans using a genome-wide association study.