Laura Mazzanti

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

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 694 citations

Cardiomyopathy, Mendelian Disorder, Genetic Disorder +6

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 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský et al. · Nature Genetics · 2009 · 313 citations · Full text

Restricted Spectrum, Mendelian Disorder, Autoimmune Disease +7

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 298 citations · Full text

Engineering, Germline Braf Defects, Genetics +16

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10