 Katherine Rauen, MD, PhD
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| Title | Associate Professor in Residence |
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| School | UCSF School of Medicine |
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| Department | Pediatrics |
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| Address | 2340 Sutter Street
San Francisco Ca 94115
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| Phone | 415-514-3513 |
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 Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications.
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Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG. Lipodermoid in a patient with Emanuel syndrome. J AAPOS. 2013 Apr; 17(2):211-3.
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Ortiz MV, Skoda-Smith S, Rauen KA, Allan RW, Slayton WB. Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case report. J Pediatr Hematol Oncol. 2012 Oct; 34(7):569-72.
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Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA. Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012 Sep; 46(3):394-9.
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Huang B, Pearle P, Rauen KA, Cotter PD. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization. Am J Med Genet A. 2012 Jul; 158A(7):1568-73.
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Siegel DH, Mann JA, Krol AL, Rauen KA. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2012 Mar; 166(3):601-7.
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Anastasaki C, Rauen KA, Patton EE. Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. Dis Model Mech. 2012 Jul; 5(4):546-52.
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Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. Am J Med Genet A. 2011 Nov; 155A(11):2816-20.
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Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Clin Genet. 2011 May; 79(5):468-74.
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Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307.
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Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2):136-46.
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Tidyman WE, Lee HS, Rauen KA. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis. Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2):104-14.
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Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A. 2011 Mar; 155A(3):486-507.
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Siegel DH, McKenzie J, Frieden IJ, Rauen KA. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol. 2011 Mar; 164(3):521-9.
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Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010 Apr; 152A(4):807-14.
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Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar; 152A(3):591-600.
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Kissil JL, Blakeley JO, Ferner RE, Huson SM, Kalamarides M, Mautner VF, McCormick F, Morrison H, Packer R, Ramesh V, Ratner N, Rauen KA, Stevenson DA, Hunter-Schaedle K, North K. What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Am J Med Genet A. 2010 Feb; 152A(2):269-83.
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Tidyman WE, Rauen KA. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. 2010; 661:433-47.
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Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan; 152A(1):4-24.
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Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009 Jun; 19(3):230-6.
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Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE. Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum Mol Genet. 2009 Jul 15; 18(14):2543-54.
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Tidyman WE, Rauen KA. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med. 2008; 10:e37.
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Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation. Am J Med Genet A. 2008 Nov 1; 146A(21):2785-90.
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Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A. 2008 May 1; 146A(9):1218-20.
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Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. Am J Med Genet A. 2008 May 1; 146A(9):1205-17.
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Lin AE, Rauen KA, Gripp KW, Carey JC. Clarification of previously reported Costello syndrome patients. Am J Med Genet A. 2008 Apr 1; 146(7):940-3.
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Rodriguez-Viciana P, Rauen KA. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. Methods Enzymol. 2008; 438:277-89.
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Estep AL, Palmer C, McCormick F, Rauen KA. Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. PLoS One. 2007; 2(12):e1279.
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Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec; 49(12):894-9.
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Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O. Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. Hum Mol Genet. 2008 Feb 1; 17(3):419-30.
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Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA. Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system. Am J Med Genet A. 2007 May 1; 143A(9):925-32.
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Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007 Mar; 28(3):265-72.
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Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet. 2007 Mar; 71(3):260-6.
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Rauen KA. HRAS and the Costello syndrome. Clin Genet. 2007 Feb; 71(2):101-8.
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Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007 Feb; 8(2):157-64.
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Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am J Med Genet A. 2006 Aug 1; 140(15):1681-3.
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Takagishi J, Rauen KA, Drumheller T, Kousseff B, Sutcliffe M. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. Am J Med Genet A. 2006 Jul 15; 140(14):1587-93.
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Korn WM, Macal M, Christian C, Lacher MD, McMillan A, Rauen KA, Warren RS, Ferrell L. Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation. Cancer Gene Ther. 2006 Aug; 13(8):792-7.
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Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3; 311(5765):1287-90.
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Iglesias A, Rauen KA, Albertson DG, Pinkel D, Cotter PD. Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case. Clin Dysmorphol. 2006 Jan; 15(1):19-23.
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Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A. 2006 Jan 1; 140(1):8-16.
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Cotter PD, Nguyen H, Tung G, Rauen KA. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes. Eur J Hum Genet. 2005 Dec; 13(12):1245-6.
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Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD. Ring chromosome 15: characterization by array CGH. Hum Genet. 2006 Jan; 118(5):611-7.
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Klein OD, Cotter PD, Schmidt AM, Bick DP, Tidyman WE, Albertson DG, Pinkel D, Rauen KA. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet A. 2005 Nov 1; 138(4):349-54.
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Marsee DK, Vadysirisack DD, Morrison CD, Prasad ML, Eng C, Duh QY, Rauen KA, Kloos RT, Jhiang SM. Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy. Thyroid. 2005 Sep; 15(9):977-87.
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Bao Y, Peng W, Verbitsky A, Chen J, Wu L, Rauen KA, Sawicki JA. Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes. Prostate. 2005 Sep 1; 64(4):401-7.
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Matsumoto K, Shariat SF, Ayala GE, Rauen KA, Lerner SP. Loss of coxsackie and adenovirus receptor expression is associated with features of aggressive bladder cancer. Urology. 2005 Aug; 66(2):441-6.
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Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A. 2005 Jun 15; 135(3):308-13.
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Rodriguez-Viciana P, Tetsu O, Oda K, Okada J, Rauen K, McCormick F. Cancer targets in the Ras pathway. Cold Spring Harb Symp Quant Biol. 2005; 70:461-7.
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Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. Clin Genet. 2004 Jun; 65(6):477-82.
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Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD. Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. Am J Med Genet A. 2003 Jul 30; 120A(3):365-9.
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Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clin Genet. 2003 May; 63(5):423-6.
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Dietz LG, Wylie AA, Rauen KA, Murphy SK, Jirtle RL, Cotter PD. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay. J Med Genet. 2003 Apr; 40(4):e46.
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Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6.
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Anders M, Hansen R, Ding RX, Rauen KA, Bissell MJ, Korn WM. Disruption of 3D tissue integrity facilitates adenovirus infection by deregulating the coxsackievirus and adenovirus receptor. Proc Natl Acad Sci U S A. 2003 Feb 18; 100(4):1943-8.
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Rauen KA, Cotter PD. Cardio-facio-cutaneous syndrome phenotype and del(12q). Am J Med Genet A. 2003 Feb 1; 116A(4):411-2.
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Rauen KA, Golabi M, Cotter PD. Fertility in a female with mosaic trisomy 8. Fertil Steril. 2003 Jan; 79(1):206-8.
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Sachs MD, Rauen KA, Ramamurthy M, Dodson JL, De Marzo AM, Putzi MJ, Schoenberg MP, Rodriguez R. Integrin alpha(v) and coxsackie adenovirus receptor expression in clinical bladder cancer. Urology. 2002 Sep; 60(3):531-6.
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Rauen KA, Sudilovsky D, Le JL, Chew KL, Hann B, Weinberg V, Schmitt LD, McCormick F. Expression of the coxsackie adenovirus receptor in normal prostate and in primary and metastatic prostate carcinoma: potential relevance to gene therapy. Cancer Res. 2002 Jul 1; 62(13):3812-8.
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Rauen KA, Albertson DG, Pinkel D, Cotter PD. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet. 2002 Jun 1; 110(1):51-6.
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Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review. Clin Genet. 2001 Nov; 60(5):366-70.
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Rauen KA, Cotter PD. Candidate region for cardio-facio-cutaneous syndrome. Am J Med Genet. 2001 Jun 15; 101(2):173; author reply 172.
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Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am J Med Genet. 2000 Jul 31; 93(3):219-22.
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