Francesca Romana Lepri
Bambino Gesù Children's Hospital(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Protein Tyrosine Phosphatases, Galectins and Cancer Biology, Genomics and Rare Diseases, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy(2007)696 cited
- → Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair(2009)413 cited
- → A restricted spectrum of NRAS mutations causes Noonan syndrome(2009)315 cited
- → GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum(2009)300 cited
- → Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype(2010)257 cited
- → Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes(2018)181 cited
- → Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis