C. Neri

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Claudio Carta, Rosanna Weksberg, Bruno Dallapiccola, 2007, Human mutation.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, Journal of Medical Genetics.