Dr. Katherine A Rauen M. D.
Pediatrician
2825 50TH ST RM 2284 SACRAMENTO CA, 95817About
Dr. Katherine Rauen is a medical geneticist and director of the NF/Ras Pathway Genetics Clinic, which she founded in 2007. She is a leader in studying Ras/MAPK pathway genetics syndromes and coined the ...
Education and Training
Univ Of Ca- Irvine- Ca Coll Of Med- Irvine Ca 1995
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
- Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
- Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes.
- Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
- Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
- HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
- Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
- Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation.
- Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect.
- Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
- Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
- HRAS and the Costello syndrome.
- Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
- Detection of single clone deletions using array CGH: identification of
- Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Fellowships
- UCSF Medical Center, Medical Genetics 2000
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