Associate Professor, Pediatrics, UCSF School of Medicine
Medical Genetics
Dr. Katherine A. Rauen, MD
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Katherine Rauen is an expert in the field of Medical Genetics. She went to University of California Irvine School of Medicine. University of California Irvine School of Medicine has a rank of 45 in research and a 62 in primary care Katherine Rauen is also a published physician. She has 71 paper published. The most recent paper is: Initial experience with home therapeutic electrical stimulation for continence in the myelomeningocele population.
Publications
- Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.
- Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines.
- Craniofacial and dental development in Costello syndrome.
- Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
- Autism traits in the RASopathies.
- Abnormal Ras Signaling in Costello Syndrome (CS) Negatively Regulates Enamel Formation.
- The RASopathies.
- Lipodermoid in a patient with Emanuel syndrome.
- Juvenile myelomonocytic leukemia in a 16-year-old with noonan syndrome: case report.
- Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization.
- Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis.
- Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
- Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
- Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
- Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
- What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers.
- Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
- Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
- Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental ...
- Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposiu...
- The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
- Clarification of previously reported Costello syndrome patients.
- Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
- Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.
- Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
- Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
- Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
- Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect.
- Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
- HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
- Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
- Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy.
- Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes.
- Loss of coxsackie and adenovirus receptor expression is associated with features of aggressive bladder cancer.
- Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
- Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR.
- Cardio-facio-cutaneous syndrome phenotype and del(12q).
- Fertility in a female with mosaic trisomy 8.
- Integrin alpha(v) and coxsackie adenovirus receptor expression in clinical bladder cancer.
- Expression of the coxsackie adenovirus receptor in normal prostate and in primary and metastatic prostate carcinoma: potential relevance to gene therapy.
- Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
- Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
- Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
- Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
- Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
- Neurological complications of cardio-facio-cutaneous syndrome.
- Advocacy groups as research organizations: the PXE International example.
- Ring chromosome 15: characterization by array CGH.
- Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case.
- Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
- Identification of a gene encoding a novel protein-tyrosine kinase containing SH2 domains and ankyrin-like repeats.
- Localization of the chicken PgK gene to chromosome 4p by fluorescence in situ hybridization.
- Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
- Candidate region for cardio-facio-cutaneous syndrome.
- Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.
- Disruption of 3D tissue integrity facilitates adenovirus infection by deregulating the coxsackievirus and adenovirus receptor.
- Periventricular heterotopia associated with chromosome 5p anomalies.
- Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.
- Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
- Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation.
- Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
- HRAS and the Costello syndrome.
- Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
- Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2.
- Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in Development.
- Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
- Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
- Cancer targets in the Ras pathway.
- Initial experience with home therapeutic electrical stimulation for continence in the myelomeningocele population.
Schools
University Of California Irvine College Of Medicine
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Stanford University -
UCSF -
University of California Irvine School of Medicine
Hospital
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UCSF Medical Center
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