Susana Puig

This study maps spatially resolved molecular states in congenital melanocytic nevi and associated tumors, revealing distinct melanocyte subpopulations and signaling networks linked to disease progression.

This study performs a transcriptomic meta-analysis of 44 psoriasis studies to identify immune-related gene expression patterns and novel pathways involved in psoriasis pathogenesis.

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.