Maria Lisa Dentici

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

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 214 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +6

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Alessandro De Luca, Anna Sárközy, Federica Consoli et al. · Heart · 2009 · 137 citations

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella et al. · Human Mutation · 2011 · 126 citations · Full text