Michael A. Patton

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

Life Sciences, Genetics, Molecular Genetics +11

Polysaccharide Conjugate Vaccine against Pneumococcal Pneumonia in Adults

Marc J. M. Bonten, Susanne M. Huijts, Marieke Bolkenbaas et al. · New England Journal of Medicine · 2015 · 1.2K citations · Full text

Veterinary Medicine, Infectious Diseases, Preventive Medicine +17

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 · 797 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 385 citations

Life Sciences, Genetics, Molecular Genetics +16

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Yaoqin Gong, Deborah Krakow, José Roberto Marcelino et al. · Nature Genetics · 1999 · 347 citations

Life Sciences, Genetics, Molecular Genetics +11