Maria Lisa Dentici

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

Life Sciences, Genetics, Molecular Genetics +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 · 305 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Medicine, Cardiology, Genetics +17

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 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16