Panagiotis I. Sergouniotis

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 investigates YAP1 variants' role in ocular coloboma using in vitro and organoid studies, showing how missense variants affect YAP1-TEAD binding and transcriptional activity.

The paper corrects a TYR variant associated with albinism in patient-derived iPSCs to create a model for studying pigmentation biology.

The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.

This study investigates the genetic and phenotypic relationships between retinal pigment epithelium thickness and various pigmentation traits, finding shared and divergent genetic factors.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

The paper evaluates and optimizes computational tools for predicting the pathogenicity of PAX6 missense variants, finding that AlphaMissense performs best with an optimized threshold.

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.

The paper investigates the role of common regulatory and protein-coding TYR variants in albinism, finding a high-frequency promoter variant modulates penetrance of a missense change and a haplotype associated with increased albinism risk.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

The paper investigates the association between gene expression variability and incomplete penetrance in inherited eye disorders using genomic and transcriptomic data.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.