Katherine A Rauen

Title(s)Professor Emeritus, Pediatrics
SchoolSchool of Medicine
AddressMIND Institute
CA 95817
Phone916-703-0204
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    Collapse Research 
    Collapse Research Activities and Funding
    The Role of Germline Mutations of the Ras/MAPK Pathway on Skeletal Myogenesis
    NIH/NIAMS R01AR062165Aug 1, 2012 - Jul 31, 2018
    Role: Principal Investigator
    Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
    NIH/NICHD R13HD061140May 1, 2009 - Dec 31, 2010
    Role: Principal Investigator
    1st Costello Syndrome Symposium
    NIH/NICHD R13HD055817May 10, 2007 - Nov 30, 2007
    Role: Principal Investigator
    Elucidation of the genetic etiology of Costello Syndrome
    NIH/NICHD K23HD048502Jan 15, 2005 - Dec 31, 2009
    Role: Principal Investigator
    Postdoctoral Training in Medical Genetics
    NIH T32GM007085Jul 1, 1975 - Jun 30, 2015
    Role: Co-Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. Am J Med Genet A. 2023 Nov 15. Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. PMID: 37969032.
      View in: PubMed   Mentions:    Fields:    
    2. Melanocytic neoplasms in neurofibromatosis type 1: a systematic review. Melanoma Res. 2023 12 01; 33(6):437-446. Meyer SN, Simmons E, Studer AC, Rauen KA, Kiuru M. PMID: 37578532; PMCID: PMC10615867.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukaemia: A systematic review. J Eur Acad Dermatol Venereol. 2023 Dec; 37(12):e1380-e1383. Meyer SN, Vaughn A, Li Y, Studer AC, Rauen KA, Kiuru M. PMID: 37422708; PMCID: PMC10774451.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus. Neuro Oncol. 2022 11 02; 24(11):1845-1856. de Blank PMK, Gross AM, Akshintala S, Blakeley JO, Bollag G, Cannon A, Dombi E, Fangusaro J, Gelb BD, Hargrave D, Kim A, Klesse LJ, Loh M, Martin S, Moertel C, Packer R, Payne JM, Rauen KA, Rios JJ, Robison N, Schorry EK, Shannon K, Stevenson DA, Stieglitz E, Ullrich NJ, Walsh KS, Weiss BD, Wolters PL, Yohay K, Yohe ME, Widemann BC, Fisher MJ. PMID: 35788692; PMCID: PMC9629420.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    5. Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation. Am J Med Genet A. 2023 02; 191(2):323-331. Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA. PMID: 36308388; PMCID: PMC9839479.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Oct; 24(10):2207. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network. PMID: 36205747; PMCID: PMC9598985.
      View in: PubMed   Mentions: 1     Fields:    
    7. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022 09; 24(9):1967-1977. Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG. PMID: 35674741.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    8. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 07; 24(7):1567-1582. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network. PMID: 35482014; PMCID: PMC9426662.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    9. Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs. Elife. 2022 04 25; 11. Cuevas-Navarro A, Rodriguez-Muñoz L, Grego-Bessa J, Cheng A, Rauen KA, Urisman A, McCormick F, Jimenez G, Castel P. PMID: 35467524; PMCID: PMC9068208.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    10. The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A. 2022 06; 188(6):1915-1927. Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M. PMID: 35266292; PMCID: PMC9117434.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    11. Defining RASopathy. Dis Model Mech. 2022 02 01; 15(2). Rauen KA. PMID: 35103797; PMCID: PMC8821523.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    12. MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model. Dis Model Mech. 2022 02 01; 15(2). Tidyman WE, Goodwin AF, Maeda Y, Klein OD, Rauen KA. PMID: 34553752; PMCID: PMC8617311.
      View in: PubMed   Mentions: 7     Fields:    Translation:Animals
    13. Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development. Ophthalmic Genet. 2022 02; 43(1):48-57. Shankar SP, Fallurin R, Watson T, Shankar PR, Young TL, Orel-Bixler D, Rauen KA. PMID: 34612139.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021 07 01; 108(7):1231-1238. Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. PMID: 34089648; PMCID: PMC8322922.
      View in: PubMed   Mentions: 69     Fields:    Translation:Humans
    15. Juvenile xanthogranuloma in Noonan syndrome. Am J Med Genet A. 2021 10; 185(10):3048-3052. Ali MM, Gilliam AE, Ruben BS, Tidyman WE, Rauen KA. PMID: 34032360; PMCID: PMC8446294.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    16. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 08; 23(8):1506-1513. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin SR. PMID: 34012067; PMCID: PMC8354850.
      View in: PubMed   Mentions: 125     Fields:    Translation:Humans
    17. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. Dev Dyn. 2021 08; 250(8):1074-1095. Maeda Y, Tidyman WE, Ander BP, Pritchard CA, Rauen KA. PMID: 33522658.
      View in: PubMed   Mentions: 5     Fields:    Translation:Animals
    18. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature. Am J Med Genet A. 2021 02; 185(2):469-475. Rauen KA, Maeda Y, Egense A, Tidyman WE. PMID: 33274568.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    19. The duality of human oncoproteins: drivers of cancer and congenital disorders. Nat Rev Cancer. 2020 07; 20(7):383-397. Castel P, Rauen KA, McCormick F. PMID: 32341551; PMCID: PMC7787056.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    20. RAS pathway influences the number of melanocytic nevi in cardiofaciocutaneous and Costello syndromes. J Am Acad Dermatol. 2020 May; 82(5):1091-1093. Kiuru M, Urban J, Zhu G, Rybak I, Terrell JR, Qi L, McPherson JD, Marghoob AA, Rauen KA. PMID: 32001297; PMCID: PMC7205038.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    21. Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. Am J Med Genet A. 2020 04; 182(4):866-876. Gross AM, Frone M, Gripp KW, Gelb BD, Schoyer L, Schill L, Stronach B, Biesecker LG, Esposito D, Hernandez ER, Legius E, Loh ML, Martin S, Morrison DK, Rauen KA, Wolters PL, Zand D, McCormick F, Savage SA, Stewart DR, Widemann BC, Yohe ME. PMID: 31913576; PMCID: PMC7456498.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    22. Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth. J Eur Acad Dermatol Venereol. 2020 Mar; 34(3):601-607. Urban J, Qi L, Zhao H, Rybak I, Rauen KA, Kiuru M. PMID: 31736117; PMCID: PMC7050334.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    23. The sixth international RASopathies symposium: Precision medicine-From promise to practice. Am J Med Genet A. 2020 03; 182(3):597-606. Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N. PMID: 31825160; PMCID: PMC7021559.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    24. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744. Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. PMID: 31222966; PMCID: PMC8238015.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    25. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Am J Med Genet A. 2019 06; 179(6):1091-1097. Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. PMID: 30908877; PMCID: PMC8279388.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    26. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 03; 21(3):764-765. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30275510; PMCID: PMC7608433.
      View in: PubMed   Mentions:    Fields:    
    27. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018 11; 39(11):1485-1493. Grant AR, Cushman BJ, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M. PMID: 30311384; PMCID: PMC6326381.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    28. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. Am J Med Genet A. 2018 12; 176(12):2924-2929. Rauen KA, Schoyer L, Schill L, Stronach B, Albeck J, Andresen BS, Cavé H, Ellis M, Fruchtman SM, Gelb BD, Gibson CC, Gripp K, Hefner E, Huang WYC, Itkin M, Kerr B, Linardic CM, McMahon M, Oberlander B, Perlstein E, Ratner N, Rogers L, Schenck A, Shankar S, Shvartsman S, Stevenson DA, Stites EC, Stork PJS, Sun C, Therrien M, Ullian EM, Widemann BC, Yeh E, Zampino G, Zenker M, Timmer W, McCormick F. PMID: 30302932; PMCID: PMC6312476.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    29. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 04; 21(4):867-876. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30190611; PMCID: PMC6752285.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    30. RASopathies are associated with a distinct personality profile. Am J Med Genet B Neuropsychiatr Genet. 2018 06; 177(4):434-446. Bizaoui V, Gage J, Brar R, Rauen KA, Weiss LA. PMID: 29659143; PMCID: PMC6039190.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    31. Age and ASD symptoms in Costello syndrome. Am J Med Genet A. 2018 04; 176(4):1027-1028. Young O, Perati S, Weiss LA, Rauen KA. PMID: 29575620; PMCID: PMC6011828.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    32. Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome. Dis Model Mech. 2018 03 13; 11(3). Aoidi R, Houde N, Landry-Truchon K, Holter M, Jacquet K, Charron L, Krishnaswami SR, Yu BD, Rauen KA, Bisson N, Newbern J, Charron J. PMID: 29590634; PMCID: PMC5897723.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    33. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Genet Med. 2018 11; 20(11):1334-1345. Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM, ClinGen RASopathy Working Group. PMID: 29493581; PMCID: PMC6119537.
      View in: PubMed   Mentions: 73     Fields:    Translation:Humans
    34. Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment. Mol Psychiatry. 2018 08; 23(8):1687-1698. Yeh E, Dao DQ, Wu ZY, Kandalam SM, Camacho FM, Tom C, Zhang W, Krencik R, Rauen KA, Ullian EM, Weiss LA. PMID: 29158583; PMCID: PMC5962360.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    35. Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. PLoS Genet. 2017 Jan; 13(1):e1006516. Mitra I, Lavillaureix A, Yeh E, Traglia M, Tsang K, Bearden CE, Rauen KA, Weiss LA. PMID: 28076348; PMCID: PMC5226683.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    36. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes. Stem Cell Reports. 2016 09 13; 7(3):355-369. Josowitz R, Mulero-Navarro S, Rodriguez NA, Falce C, Cohen N, Ullian EM, Weiss LA, Rauen KA, Sobie EA, Gelb BD. PMID: 27569062; PMCID: PMC5032183.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    37. Pathogenetics of the RASopathies. Hum Mol Genet. 2016 Oct 01; 25(R2):R123-R132. Tidyman WE, Rauen KA. PMID: 27412009; PMCID: PMC6283265.
      View in: PubMed   Mentions: 53     Fields:    
    38. Expansion of the RASopathies. Curr Genet Med Rep. 2016 Sep; 4(3):57-64. Tidyman WE, Rauen KA. PMID: 27942422; PMCID: PMC5142630.
      View in: PubMed   Mentions: 34  
    39. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Am J Med Genet A. 2016 08; 170(8):1959-66. Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC. PMID: 27155140; PMCID: PMC4945362.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    40. Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. J Neurosci. 2016 Jan 06; 36(1):142-52. Rooney GE, Goodwin AF, Depeille P, Sharir A, Schofield CM, Yeh E, Roose JP, Klein OD, Rauen KA, Weiss LA, Ullian EM. PMID: 26740656; PMCID: PMC4701956.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    41. RASopathies: unraveling mechanisms with animal models. Dis Model Mech. 2015 Sep; 8(9):1167. Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. PMID: 26398161; PMCID: PMC4582110.
      View in: PubMed   Mentions: 10     Fields:    
    42. RASopathies: unraveling mechanisms with animal models. Dis Model Mech. 2015 Aug 01; 8(8):769-82. Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. PMID: 26203125; PMCID: PMC4527292.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    43. Dysregulation of astrocyte extracellular signaling in Costello syndrome. Sci Transl Med. 2015 May 06; 7(286):286ra66. Krencik R, Hokanson KC, Narayan AR, Dvornik J, Rooney GE, Rauen KA, Weiss LA, Rowitch DH, Ullian EM. PMID: 25947161; PMCID: PMC4474402.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansAnimalsCells
    44. The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach. Am J Med Genet A. 2015 Aug; 167A(8):1741-6. Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L. PMID: 25900621; PMCID: PMC4515140.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    45. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. Am J Med Genet A. 2015 Jan; 167A(1):1-10. Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. PMID: 25393061; PMCID: PMC4275383.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimals
    46. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. PMID: 25180280; PMCID: PMC4179092.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    47. Craniofacial and dental development in Costello syndrome. Am J Med Genet A. 2014 Jun; 164A(6):1425-30. Goodwin AF, Oberoi S, Landan M, Charles C, Massie JC, Fairley C, Rauen KA, Klein OD. PMID: 24668879; PMCID: PMC4115793.
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    48. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014 Feb; 46(2):182-7. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. PMID: 24362817; PMCID: PMC4352302.
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    49. Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. Pediatr Dev Pathol. 2014 Jan-Feb; 17(1):59-63. Terry J, Rauen KA, Nowaczyk MJ. PMID: 24303953.
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    50. Autism traits in the RASopathies. J Med Genet. 2014 Jan; 51(1):10-20. Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA. PMID: 24101678; PMCID: PMC4230531.
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    51. Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. Hum Mol Genet. 2014 Feb 01; 23(3):682-92. Goodwin AF, Tidyman WE, Jheon AH, Sharir A, Zheng X, Charles C, Fagin JA, McMahon M, Diekwisch TG, Ganss B, Rauen KA, Klein OD. PMID: 24057668; PMCID: PMC3888259.
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    52. The RASopathies. Annu Rev Genomics Hum Genet. 2013; 14:355-69. Rauen KA. PMID: 23875798; PMCID: PMC4115674.
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    53. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Clin Genet. 2014 Feb; 85(2):138-46. Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. PMID: 23379592; PMCID: PMC4480871.
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    54. Lipodermoid in a patient with Emanuel syndrome. J AAPOS. 2013 Apr; 17(2):211-3. Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG. PMID: 23528375.
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    55. Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case report. J Pediatr Hematol Oncol. 2012 Oct; 34(7):569-72. Ortiz MV, Skoda-Smith S, Rauen KA, Allan RW, Slayton WB. PMID: 22510777.
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    56. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. Clin Genet. 2013 Jun; 83(6):539-44. Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA. PMID: 22946697; PMCID: PMC4115672.
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    57. Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012 Sep; 46(3):394-9. 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. PMID: 22907230.
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    58. 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. Huang B, Pearle P, Rauen KA, Cotter PD. PMID: 22639445; PMCID: PMC3378800.
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    59. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2012 Mar; 166(3):601-7. Siegel DH, Mann JA, Krol AL, Rauen KA. PMID: 22098123; PMCID: PMC4063554.
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    60. Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. Dis Model Mech. 2012 Jul; 5(4):546-52. Anastasaki C, Rauen KA, Patton EE. PMID: 22301711; PMCID: PMC3380717.
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    61. The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation. . 2012 Jan 1; 497-511. Tidyman TW, Rauen RK. .
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    62. 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. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. PMID: 21965155.
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    63. 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. Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. PMID: 20735442.
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    64. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307. 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. PMID: 21525063; PMCID: PMC3227222.
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    65. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet. 2011 May 15; 157C(2):136-46. 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. PMID: 21495172; PMCID: PMC4145816.
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    66. 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; 157C(2):104-14. Tidyman WE, Lee HS, Rauen KA. PMID: 21495178.
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    67. 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. 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. PMID: 21344638.
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    68. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol. 2011 Mar; 164(3):521-9. Siegel DH, McKenzie J, Frieden IJ, Rauen KA. PMID: 21062266; PMCID: PMC4063552.
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    69. 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. Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. PMID: 20358587; PMCID: PMC4180666.
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    70. 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. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. PMID: 20186801; PMCID: PMC3085983.
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    71. What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Am J Med Genet A. 2010 Feb; 152A(2):269-83. 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. PMID: 20082461; PMCID: PMC2818482.
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    72. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. 2010; 661:433-47. Tidyman WE, Rauen KA. PMID: 20812000.
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    73. 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. 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. PMID: 20014119; PMCID: PMC4051786.
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    74. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009 Jun; 19(3):230-6. Tidyman WE, Rauen KA. PMID: 19467855; PMCID: PMC2743116.
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    75. 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. Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE. PMID: 19376813; PMCID: PMC2701326.
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    76. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med. 2008 Dec 09; 10:e37. Tidyman WE, Rauen KA. PMID: 19063751.
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    77. 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 01; 146A(21):2785-90. Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X. PMID: 18924166.
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    78. 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 01; 146A(9):1205-17. 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. PMID: 18412122.
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    79. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A. 2008 May 01; 146A(9):1218-20. Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA. PMID: 18386799.
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    80. Clarification of previously reported Costello syndrome patients. Am J Med Genet A. 2008 Apr 01; 146A(7):940-3. Lin AE, Rauen KA, Gripp KW, Carey JC. PMID: 18302240.
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    81. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. Methods Enzymol. 2008; 438:277-89. Rodriguez-Viciana P, Rauen KA. PMID: 18413255.
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    82. Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. PLoS One. 2007 Dec 05; 2(12):e1279. Estep AL, Palmer C, McCormick F, Rauen KA. PMID: 18060073; PMCID: PMC2093994.
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    83. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec; 49(12):894-9. Yoon G, Rosenberg J, Blaser S, Rauen KA. PMID: 18039235.
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    84. 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 01; 17(3):419-30. Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O. PMID: 17981815.
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    85. 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 01; 143A(9):925-32. Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA. PMID: 17394204.
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    86. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007 Mar; 28(3):265-72. 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. PMID: 17054105.
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    87. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet. 2007 Mar; 71(3):260-6. Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA. PMID: 17309649.
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    88. HRAS and the Costello syndrome. Clin Genet. 2007 Feb; 71(2):101-8. Rauen KA. PMID: 17250658.
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    89. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007 02; 8(2):157-64. Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. PMID: 17230202.
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    90. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am J Med Genet A. 2006 Aug 01; 140(15):1681-3. Rauen KA. PMID: 16804887.
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    91. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. Am J Med Genet A. 2006 Jul 15; 140(14):1587-93. Takagishi J, Rauen KA, Drumheller T, Kousseff B, Sutcliffe M. PMID: 16770804.
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    92. Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation. Cancer Gene Ther. 2006 Aug; 13(8):792-7. Korn WM, Macal M, Christian C, Lacher MD, McMillan A, Rauen KA, Warren RS, Ferrell L. PMID: 16628228.
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    93. Biological response determinants in HSV-tk + ganciclovir gene therapy for prostate cancer. Mol Ther. 2006 Apr; 13(4):716-28. Ayala G, Satoh T, Li R, Shalev M, Gdor Y, Aguilar-Cordova E, Frolov A, Wheeler TM, Miles BJ, Rauen K, Teh BS, Butler EB, Thompson TC, Kadmon D. PMID: 16480930.
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    94. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 03; 311(5765):1287-90. Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. PMID: 16439621.
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    95. Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case. Clin Dysmorphol. 2006 Jan; 15(1):19-23. Iglesias A, Rauen KA, Albertson DG, Pinkel D, Cotter PD. PMID: 16317302.
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    96. 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 01; 140(1):8-16. Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. PMID: 16372351.
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    97. 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. Cotter PD, Nguyen H, Tung G, Rauen KA. PMID: 16175191.
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    98. Ring chromosome 15: characterization by array CGH. Hum Genet. 2006 Jan; 118(5):611-7. Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD. PMID: 16267671.
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    99. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet A. 2005 Nov 01; 138(4):349-54. Klein OD, Cotter PD, Schmidt AM, Bick DP, Tidyman WE, Albertson DG, Pinkel D, Rauen KA. PMID: 16200635.
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    100. Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes. Prostate. 2005 Sep 01; 64(4):401-7. Bao Y, Peng W, Verbitsky A, Chen J, Wu L, Rauen KA, Sawicki JA. PMID: 15761871.
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    101. Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy. Thyroid. 2005 Sep; 15(9):977-87. Marsee DK, Vadysirisack DD, Morrison CD, Prasad ML, Eng C, Duh QY, Rauen KA, Kloos RT, Jhiang SM. PMID: 16187905.
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    102. Loss of coxsackie and adenovirus receptor expression is associated with features of aggressive bladder cancer. Urology. 2005 Aug; 66(2):441-6. Matsumoto K, Shariat SF, Ayala GE, Rauen KA, Lerner SP. PMID: 16040097.
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    103. 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. Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. PMID: 15887264.
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    104. Cancer targets in the Ras pathway. Cold Spring Harb Symp Quant Biol. 2005; 70:461-7. Rodriguez-Viciana P, Tetsu O, Oda K, Okada J, Rauen K, McCormick F. PMID: 16869784.
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    105. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. Clin Genet. 2004 Jun; 65(6):477-82. Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. PMID: 15151506.
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    106. 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. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD. PMID: 12838556.
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    107. 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. Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. PMID: 12752577.
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    108. 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. Dietz LG, Wylie AA, Rauen KA, Murphy SK, Jirtle RL, Cotter PD. PMID: 12676919; PMCID: PMC1735412.
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    109. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. PMID: 12654978.
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    110. 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. Anders M, Hansen R, Ding RX, Rauen KA, Bissell MJ, Korn WM. PMID: 12576544; PMCID: PMC149938.
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    111. Cardio-facio-cutaneous syndrome phenotype and del(12q). Am J Med Genet A. 2003 Feb 01; 116A(4):411-2. Rauen KA, Cotter PD. PMID: 12522803.
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    112. Fertility in a female with mosaic trisomy 8. Fertil Steril. 2003 Jan; 79(1):206-8. Rauen KA, Golabi M, Cotter PD. PMID: 12524090.
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    113. Integrin alpha(v) and coxsackie adenovirus receptor expression in clinical bladder cancer. Urology. 2002 Sep; 60(3):531-6. Sachs MD, Rauen KA, Ramamurthy M, Dodson JL, De Marzo AM, Putzi MJ, Schoenberg MP, Rodriguez R. PMID: 12350512.
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    114. 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 01; 62(13):3812-8. Rauen KA, Sudilovsky D, Le JL, Chew KL, Hann B, Weinberg V, Schmitt LD, McCormick F. PMID: 12097294.
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    115. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet. 2002 Jun 01; 110(1):51-6. Rauen KA, Albertson DG, Pinkel D, Cotter PD. PMID: 12116271.
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    116. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review. Clin Genet. 2001 Nov; 60(5):366-70. Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD. PMID: 11903338.
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    117. Candidate region for cardio-facio-cutaneous syndrome. Am J Med Genet. 2001 Jun 15; 101(2):173; author reply 172. Rauen KA, Cotter PD. PMID: 11391663.
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