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    Keith Vaux

    TitleClinical Professor
    SchoolUniversity of California, San Diego
    Address9500 Gilman Drive #0667
    CA La Jolla 92093
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      Collapse Biography 
      Collapse Awards and Honors
      Genomics in Primary Care Institute 2014American Academy of Pediatrics Professorship
      2010Kaiser Excellence in Teaching Award Nominee
      Western Society for Pediatric Research2005Mead Johnson Young Investigator Award
      Teratology Society2004Fellow Award
      DWS Workshop on Malformations and Morphogenesis 2004Fellow Award
      Teratology Society2002Young Investigator Award
      Western Society for Pediatric Research2002David W Smith Pediatric Trainee Award
      Western Society for Pediatric Research2002Mead Johnson Fellowship Award
      2002Navy Meritorious Unit Commendation
      2001Navy Commendation Award
      1999Navy Achievement Medal
      1998Humanitarian Service Award
      1997Meritorious Unit Commendation
      1997Navy Achievement Medal

      Collapse Overview 
      Collapse Overview
      Keith K. Vaux, MD, is the Clinical Chief and Division Director (Interim) of the Division of Medical Genetics. He is also Assistant Dean for CME at the UC San Diego School of Medicine Department of Medical Education and Medical Director of CME at Rady Children's Hospital San Diego. Dr. Vaux is co-investigator for the California Institute of Regenerative Medicine Tissue Collection for Neurodevelopmental Disorders and is an investigator with the Gleeson Laboratory for Neurodevelopmental Genetics at Rockefeller University. His clinical and research interests include Rare Diseases, Epilepsy and Autism.

      - 2004 - Fellowship: Dysmorphology and Medical Genetics with additional certificate in Teratology, UC San Diego, CA. Mentor, Kenneth Lyons Jones
      - 1997 - Chief Resident:  Pediatrics, Naval Medical Center, San Diego CA
      - 1997 - Residency, Pediatrics Naval Medical Center, San Diego CA
      - 1995 - Internship, Naval Medical Center, San Diego CA
      - 1994 - M.D.: University of Chicago, Pritzker School of Medicine, Chicago, IL
      - 1987 - B.A.:  History, Philosophy and Social Studies of Science and Medicine, University of Chicago 1984 - Human Sciences:  Oxford University, Mansfield College, Oxford, England

      - 2014-pres - Clinical Director and Division Head (interim) Medical Genetics, Department of Medicine, UC San Diego
      - 2014-pres - Professor of Clinical Medicine, Department of Medicine, UC San Diego
      - 2012-pres - Assistant Dean, Continuing Medical Education, Department of Medical Education, UC San Diego
      - 2010-2014 - Professor of Clinical Pediatrics, UC San Diego
      - 2009-2010 - Associate Professor of Pediatrics, UC San Diego
      - 2008-pres - Medical Director, Continuing Medical Education, Rady Children's Hospital
      2004-2009 - Attending Physician, Children’s Specialists of San Diego and Kaiser Permanente Department of Genetics
      - 1999-2007 - Attending Physician, Pediatrics and Dysmorphology, Naval Medical Center, San Diego
      - 1997-1999 - Attending Physician, Naval Hospital, Guam

      Collapse ORNG Applications 
      Collapse Websites

      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.
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      1. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux K, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet. 2016 Apr 7; 98(4):667-79. PMID: 27018473.
        View in: PubMed
      2. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux K, Gleeson JG. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016 Apr; 170(4):992-8. PMID: 27001912.
        View in: PubMed
      3. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati M, Incecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux K, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4. PMID: 26026149.
        View in: PubMed
      4. Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux K, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015 Jul; 47(7):809-13. PMID: 26005868.
        View in: PubMed
      5. Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux K, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015 May; 47(5):528-34. PMID: 25848753.
        View in: PubMed
      6. Rosti RO, Sadek AA, Vaux K, Gleeson JG. The genetic landscape of autism spectrum disorders. Dev Med Child Neurol. 2014 Jan; 56(1):12-8. PMID: 24116704.
        View in: PubMed
      7. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 1; 154(3):505-17. PMID: 23911318.
        View in: PubMed
      8. Eichenfield LF, Krakowski AC, Piggott C, Del Rosso J, Baldwin H, Friedlander SF, Levy M, Lucky A, Mancini AJ, Orlow SJ, Yan AC, Vaux K, Webster G, Zaenglein AL, Thiboutot DM. Evidence-based recommendations for the diagnosis and treatment of pediatric acne. Pediatrics. 2013 May; 131 Suppl 3:S163-86. PMID: 23637225.
        View in: PubMed
      9. Hackett LK, Tarsa M, Wolfson TJ, Kaplan G, Vaux K, Pretorius DH. Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification. J Ultrasound Med. 2010 Feb; 29(2):195-202. PMID: 20103789.
        View in: PubMed
      10. Baughn MR, Vaux K, Masliah E. Placenta accreta in a separate uterine horn. Pediatr Dev Pathol. 2010 Jan-Feb; 13(1):63-5. PMID: 19642813.
        View in: PubMed
      11. Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet A. 2008 Nov 15; 146A(22):2885-90. PMID: 18925679.
        View in: PubMed
      12. Jones KL, Webster WS, Vaux K, Benirschke K. Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting. Birth Defects Res A Clin Mol Teratol. 2008 Aug; 82(8):597-600. PMID: 18553490.
        View in: PubMed
      13. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux K, Vicente A, Weibel L, Chitayat D, Vikkula M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008 Jul; 29(7):959-65. PMID: 18446851.
        View in: PubMed
      14. Vaux K, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7. PMID: 15690369.
        View in: PubMed
      15. Vaux K, Jones MC, Benirschke K, Bird LM, Jones KL. Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway? Am J Med Genet A. 2005 Jan 30; 132A(3):314-7. PMID: 15690378.
        View in: PubMed
      16. Vaux K, Jones KL, Jones MC, Schelley S, Hudgins L. Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):263-4. PMID: 15523636.
        View in: PubMed
      17. Emery SC, Vaux K, Pretorius D, Masliah E, Benirschke K. Acardiac twin with externalized intestine adherent to placenta: unusual manifestation of omphalocele. Pediatr Dev Pathol. 2004 Jan-Feb; 7(1):81-5. PMID: 15255039.
        View in: PubMed
      18. Wheeler DS, Vaux K, Ponaman ML, Poss BW. The safe and effective use of propofol sedation in children undergoing diagnostic and therapeutic procedures: experience in a pediatric ICU and a review of the literature. Pediatr Emerg Care. 2003 Dec; 19(6):385-92. PMID: 14676486.
        View in: PubMed
      19. Vaux K, Wojtczak H, Benirschke K, Jones KL. Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. Am J Med Genet A. 2003 Jun 15; 119A(3):302-4. PMID: 12784297.
        View in: PubMed
      20. Vaux K, Kahole NC, Jones KL. Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway? Birth Defects Res A Clin Mol Teratol. 2003 Jun; 67(6):403-8. PMID: 12962283.
        View in: PubMed
      21. Wheeler DS, Vaux K, Starr SR, Poss WB. The pediatric critical care experience at Naval Hospital Guam: suggestions for critical care training during residency. Mil Med. 2000 Jun; 165(6):441-4. PMID: 10870358.
        View in: PubMed
      22. Wheeler DS, Vaux K, Tam DA. Use of gabapentin in the treatment of childhood reflex sympathetic dystrophy. Pediatr Neurol. 2000 Mar; 22(3):220-1. PMID: 10734253.
        View in: PubMed
      23. Wheeler DS, Sperring JL, Vaux K, Poss WB. Development of a pediatric critical care transport team: experience at a military medical center. Mil Med. 1999 Mar; 164(3):188-93. PMID: 10091491.
        View in: PubMed
      24. Wheeler DS, Vazquez WD, Vaux K, Poss WB. Streptococcal pyomyositis: case report and review. Pediatr Emerg Care. 1998 Dec; 14(6):411-2. PMID: 9881987.
        View in: PubMed