William J. Pavan

This study evaluates the efficacy of systemic AAV9-hNPC1 gene therapy in NPC1 mouse models, finding that higher doses and earlier treatment improve survival and slow disease progression.

This study compares systemic neonatal and intracerebroventricular AAV9 gene therapy in Npc1-deficient mice, finding that systemic neonatal delivery achieves comparable survival and phenotypic improvements to ICV delivery.

The paper uses single-cell transcriptomics to study zebrafish skin development, identifying new cell types and signaling mechanisms involved in pigment pattern and scale formation.

The paper identifies TBX3 as a key regulator in pheomelanogenesis and melanoma predisposition through scRNA-seq analysis of RHC mouse models.

The paper analyzes pigmentation phenotypes in UK Biobank using DISSECT to identify new candidate genes and explore sex differences and geographic patterns in hair and skin color.

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.

This study shows that Cpf1 can achieve high gene targeting rates in mice, sometimes surpassing Cas9, but requires higher mRNA and guide concentrations.