The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

ras oncogenes in human cancer: a review.

1989 • 5,116 citations

Mechanism of Activation of the RAF-ERK Signaling Pathway by Oncogenic Mutations of B-RAF

2004 • 2,674 citations

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

2001 • 1,678 citations

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

1990 • 1,471 citations

The extracellular signal-regulated kinase: Multiple substrates regulate diverse cellular functions

2006 • 1,247 citations

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

1990 • 1,085 citations

Crystal Structure of the Tyrosine Phosphatase SHP-2

1998 • 940 citations

Germline KRAS mutations cause Noonan syndrome

2006 • 729 citations

Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

2003 • 705 citations

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

2007 • 664 citations

Germline mutations in HRAS proto-oncogene cause Costello syndrome

2005 • 659 citations

Neurofibromatosis Type 1 Revisited

2008 • 648 citations

Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.

1984 • 607 citations

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

2006 • 592 citations

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

2006 • 579 citations

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

2006 • 573 citations

Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

2006 • 549 citations

K-ras is an essential gene in the mouse with partial functional overlap with N-ras

1997 • 537 citations

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

2007 • 480 citations

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

2007 • 446 citations

Spred is a Sprouty-related suppressor of Ras signalling

2001 • 429 citations

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

2002 • 409 citations

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

2008 • 399 citations

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

2006 • 394 citations

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

2003 • 379 citations

MAP kinase in situ activation atlas during Drosophila embryogenesis

1997 • 314 citations

PTPN11 (Shp2) Mutations in LEOPARD Syndrome Have Dominant Negative, Not Activating, Effects

2005 • 314 citations

Diverse Biochemical Properties of Shp2 Mutants

2005 • 278 citations

PTPN11 mutations in LEOPARD syndrome

2002 • 271 citations

The natural history of Noonan syndrome: a long-term follow-up study

2006 • 268 citations

RASA1: variable phenotype with capillary and arteriovenous malformations

2005 • 268 citations

The cardiofaciocutaneous syndrome

2006 • 261 citations

NRAS mutation causes a human autoimmune lymphoproliferative syndrome

2007 • 238 citations

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

2005 • 227 citations

A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1

2002 • 206 citations

Fgf signalling controls the dorsoventral patterning of the zebrafish embryo

2004 • 198 citations

GENETIC DISORDERS OF PROGRAMMED CELL DEATH IN THE IMMUNE SYSTEM

2005 • 192 citations

Expression of Endogenous OncogenicV600EB-rafInduces Proliferation and Developmental Defects in Mice and Transformation of Primary Fibroblasts

2005 • 169 citations

Induction of Xenopus Oocyte Meiotic Maturation by MAP Kinase

1995 • 154 citations

Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts

1990 • 144 citations

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

2006 • 130 citations

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

2005 • 125 citations

Neurological complications of cardio‐facio‐cutaneous syndrome

2007 • 124 citations

Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway

2008 • 106 citations

HRAS and the Costello syndrome

2007 • 106 citations

Essential role of B-Raf in ERK activation during extraembryonic development

2006 • 101 citations

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

1998 • 100 citations

Biochemical and Functional Characterization of Germ Line KRAS Mutations

2007 • 96 citations

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

2009 • 92 citations

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

2008 • 90 citations

Expression of Activated MAP Kinase in Xenopus laevis Embryos: Evaluating the Roles of FGF and Other Signaling Pathways in Early Induction and Patterning

2000 • 77 citations

Mutation analysis in Costello syndrome: functional and structural characterization of theHRASp.Lys117Arg mutation

2007 • 50 citations

Autoimmune lymphoproliferative syndrome

2004 • 49 citations

Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis

2007 • 42 citations

Molecular Causes of the Cardio-Facio-Cutaneous Syndrome

2008 • 6 citations