María Isidoro‐García

An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders

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.

SPRED1 variants reveal differential impacts on signaling dynamics

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

Intermediate molecular phenotypes to identify genetic markers of anthracycline-induced cardiotoxicity risk

The paper identifies genetic markers for anthracycline-induced cardiotoxicity risk by analyzing intermediate molecular phenotypes in mice and human cohorts.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

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