Clinical and molecular characterization of 40 patients with Noonan syndrome

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 783 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 736 citations

Germline Kras Mutations, Mendelian Disorder, Genetic Disorder +6

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

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Amy E. Roberts, Toshiyuki Araki, Kenneth D. Swanson et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Hypertelorism With Turner Phenotype

Jacqueline A. Noonan · American journal of diseases of children · 1968 · 539 citations

Male Turner Syndrome, Turner Phenotype, Genetic Disorder +10