Pablo Prieto‐Matos

The paper assesses PTPN11 variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders through clinical, biochemical, and in vivo analyses.

The paper functionally assesses SPRED1 variants to determine their impact on RAS-MAPK signaling dynamics and clinical phenotypes.

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.