Marco Tartaglia

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Molecular Physiology, Signal Transduction, Genetic Disorder +8

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale et al. · Nature Genetics · 2003 · 1K citations

Hematological Malignancy, Chromatin, Somatic Variant +10

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

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Xonia Carvajal‐Vergara, Ana Sevilla, Sunita L. D’Souza et al. · Nature · 2010 · 695 citations · Full text

Regenerative Medicine, Induced Pluripotent Stem Cell, Developmental Biology +8

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