Concepedia

Giuseppe Zampino

GZ

Statistics

Publications

134

Citations

10K

H-Index

44

Active since

1992

Affiliations

Università Cattolica del Sacro Cuore(Current)

Bambino Gesù Children's Hospital

Agostino Gemelli University Polyclinic

Istituti di Ricovero e Cura a Carattere Scientifico

Istituto Superiore di Sanità

Giuseppe Zampino is an author at Università Cattolica del Sacro Cuore specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1992–2025

134

Publications

134

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 702 citations

, , +9

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 431 citations · Full text

, , +16

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 417 citations · Full text

, , +9

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský et al. · Nature Genetics · 2009 · 317 citations · Full text

, , +7

1–5 of 134