Viviana Cordeddu
Istituto Superiore di Sanità(IT)
Publications by Year
Research Areas
Protein Tyrosine Phosphatases, Galectins and Cancer Biology, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases
Most-Cited Works
- → Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease(2006)425 cited
- → Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair(2009)413 cited
- → GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum(2009)300 cited
- → A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998)(2002)200 cited
- → Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis(2006)180 cited
- → SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations(2011)127 cited
- → Gene Therapy in Retinal Dystrophies(2019)102 cited
- → Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome(2004)101 cited
- → Mutations in ZBTB20 cause Primrose syndrome(2014)99 cited
- → Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome(2015)82 cited