Robert A. Cornell

This study shows that Mitfa-independent melanocyte progenitors in zebrafish are more susceptible to GNAQ-induced uveal melanoma than differentiated melanocytes.

The paper identifies GRHL1 as an orofacial cleft risk gene by analyzing conserved transcriptional regulatory networks between zebrafish and human periderm using single-cell multiome sequencing and functional validation.

The paper investigates the role of Zfp750 in periderm development and orofacial cleft risk by analyzing genetic variants and mouse models.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

This study identifies functional non-coding variants associated with orofacial cleft by combining GWAS, reporter assays, and stem cell modeling.

This study shows that loss of PRMT5 in skin leads to defective stratification and an atypical keratinocyte population with senescence-like features.

This study identifies TFE3 and the non-canonical mTORC1 pathway as regulators of melanoma cell state plasticity, showing MITF suppresses the mesenchymal phenotype by modulating TFE3 expression.

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

The paper shows that TFAP2 paralogs regulate midfacial development via the ALX genetic pathway in mice and zebrafish.

The paper shows TFAP2 paralogs enhance MITF's ability to activate pigmentation genes but independently repress cell adhesion genes, affecting melanocyte and melanoma cell behavior.

The paper identifies a regulatory variant near human KRT8/18 by analyzing zebrafish periderm enhancers and predicting the effect of OFC-associated SNPs.