• Publications
  • Influence
The RASopathies.
  • K. Rauen
  • Medicine
  • Annual review of genomics and human genetics
  • 2013
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinaseExpand
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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development.Expand
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Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal abnormalities, and developmental delay. WeExpand
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Autism traits in the RASopathies
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndromeExpand
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Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
Activating mutations in v‐Ha‐ras Harvey rat sarcoma viral oncogene homolog (HRAS) have recently been identified as the molecular cause underlying Costello syndrome (CS). To further investigate theExpand
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individualsExpand
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Neurological complications of cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental andExpand
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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
Background Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified. Objective To identifyExpand
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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development
Background  The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen‐activated protein kinase (MAPK) pathway.Expand
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ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation
TLDR
The ClinGen RASopathy CDWG established an expert panel to curate gene information and generate gene- and disease-specific specifications to ACMG-AMP variant classification framework. Expand
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