Brian P. Brooks

This paper identifies genetic variants and genes associated with foveal hypoplasia using GWAS and multi-omics data, and establishes a zebrafish model to study the condition.

This study shows that reducing sAC activity restores pigmentation in OCA models and increases melanin synthesis, suggesting targeting melanosome pH as a therapeutic strategy for OCA and skin cancer risk.

The paper shows that loss of Hippo signaling components yap1 and wwtr1 causes transdifferentiation of neural retina at the optic fissure, leading to coloboma.

The paper identifies ampyrone as a direct activator of human tyrosinase, showing increased catalytic activity and melanin synthesis in melanocytes and skin cultures, suggesting potential therapeutic use for hypopigmentation disorders.

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.

This study presents a 10-year prospective analysis of type II GM1 gangliosidosis, detailing disease progression and phenotypic features in 41 patients.

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

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 analyzes chick optic fissure closure, identifying Netrin-1 as a conserved mediator of epithelial fusion essential for vertebrate development and linked to human coloboma.

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.