David M. McGaughey

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

PLAE provides a web app for querying and visualizing over a million single-cell transcriptomes from vertebrate eyes and bodies across multiple species and tissues.

The paper maps transcriptional profiles in macaque retina and RPE-choroid tissues, identifying conserved gene expression patterns and signaling pathways relevant to high-acuity vision and disease.

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.

The paper develops a method to integrate single cell transcriptome data from multiple retinal datasets across species to create a comprehensive ocular meta-atlas.

The paper optimizes a short-read de novo transcriptome pipeline using long-read data to identify novel gene isoforms in eye samples and their relevance to development and disease.

The paper develops a database and web tool for querying gene expression in human eye and body tissues using RNA-seq data from GTEx and eye-related samples.

The paper integrates RNA-seq data from human eye tissues and other body tissues to identify biological processes and gene correlations, building gene networks and providing an interactive web tool.