CURRICULUM VITAE
`
`Date:
`
`Name:
`
`
`
`
`
`August 3, 2016
`
`Keith Vaux, M.D.
`
`
`
`Business Address: Point Loma Pediatrics
`2790 Truxtun Road Suite 120A
`San Diego CA 92106
`Phone 619-222-1253
`Fax 619-222-1276
`Email keithvaux@gmail.com
`
`
`
`Education:
`1982 – 1984
`1984 – 1987
`
`1990 – 1994
`1994 – 1995
`1995 - 1997
`1996 – 1997
`2001 – 2004
`
`Human Sciences: Oxford University, Mansfield College, Oxford, England
`B.A.: History, Philosophy and Social Studies of Science and Medicine,
`University of Chicago, Chicago, IL
`M.D.: University of Chicago, Pritzker School of Medicine, Chicago, IL
`Internship, Naval Medical Center, San Diego CA
`Residency, Pediatrics Naval Medical Center, San Diego CA
`Chief Residency: Pediatrics, Naval Medical Center, San Diego CA
`Fellowship: Dysmorphology and Medical Genetics with additional certificate
`in Teratology, University of California, San Diego, CA. Mentor, Kenneth
`Lyons Jones
`
`Licensure and Certification:
`
`California Medical License, Active
`
`American Board of Pediatrics, Active
`
`Drug Enforcement Administration, Controlled Substance Registration
`Certification
`Pediatric Advanced Life Support Certification
`Basic Life Support Certification
`
`
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`11/2010- 2014
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`Employment:
`7/1997 – 6/1999 Naval Hospital, Guam, Attending Physician
`6/1999 – 6/2001 Naval Medical Center, San Diego, Attending Physician
`6/2004 – 7/2006 University of California, San Diego, Attending Physician
`7/2006 – 8/2007 Children’s Specialists of San Diego, Kaiser Permanente, Attending Physician
`9/2007 – 3/2008 Kaiser Permanente, San Diego, Attending Physician
`4/2008 – 9/2009 Children’s Specialists of San Diego
`9/2009 – 11/2010 University of California, San Diego, Associate Professor of Pediatrics.
`Divisions of Dysmorphology and Hospital Medicine
`University of California, San Diego, Professor of Pediatrics. Divisions of
`Dysmorphology and Hospital Medicine
`07/2014-present University of California San Diego Professor of Medicine
`07/2014-present Director and Clinical Chief, Division of Medical Genetics
`03/2015-present University of California San Diego, Professor of Neurosciences
`08/2012- 2016
`Assistant Dean, Continuing Medical Education, Department of Medical
`Education
`7/2013-present Faculty Member, UCSD International CORE (Clinical Observership and
`Research Education Program)
`1/2014-present Medical Board of California, Expert Reviewer
`1/2014-present Professor, UC San Diego Neurosciences and King Fahad Specialist Hospital
`–Dammam University Kingdom of Saudi Arabia Faculty Exchange.
`5/2014-present Medscape/E-Medicine Chief Editor, Genetics and Genomics
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`Professional and University Service:
`1997 – 1999
`Naval Hospital Guam, Executive Committee of the Medical Staff, Elected
`Member
`Secretary, Uniformed Services Pediatric Services Section, American
`Academy of Pediatrics
`Faculty and Resident Advisor, Naval Medical Center San Diego
`Information Management Executive Committee, Naval Medical Center San
`Diego
`Faculty, UCSD/NMCSD Dyson Initiative for Community Pediatrics
`Community Pediatrics Coordinator, NMCSD
`Assistant Program Director, Transitional Intern Program Naval Medical
`Center San Diego
`Planning Committee, Uniformed Services Pediatric Services Annual Meeting,
`San Diego CA 2002
`Kaiser Regional Genetics Committee
`Planning and Curriculum Committee, UCSD/RCHSD Pediatric Dermatology
`for the Practitioner, Apr 17-18, 2009
`Executive Committee of the Medical Staff, Rady Children’s Hospital San
`Diego
`RCHSD Quality Improvement Committee
`RCHSD Continuing Medical Education Committee
`Chair, Planning and Curriculum Committee, American Academy of Pediatrics
`and RCHSD 2009-2015 Advances in the Practice of Pediatrics Conference
`Faculty Advisor, University of California, San Diego, Pediatric Residency
`Program
`RCHSD/UCSD Pediatric Grand Rounds Planning Committee
`Course Director, UCSD/RCHSD Summer Grand Rounds Series
`Planning and Curriculum Committee, UCSD/RCHSD Evolving Concepts in
`the Management of Complex Congenital Heart Disease, 2010, 2013, 2015
`Rady Children’s Hospital-San Diego Continuing Medical Education
`Curriculum and Strategic Planning Committee
`
`1998 – 2001
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`1999 – 2001
`1999 – 2001
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`1999 – 2001
`1999 – 2001
`1999 – 2001
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`2001 – 2002
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`2004 – 2008
`2008 – 2009
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`2008 – 2015
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`2008 – 2015
`2008 – 2015
`2008 – 2015
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`2009 – 2014
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`2009 – 2015
`2009 – 2015
`2009 – 2015
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`2010 – 2015
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`Professional Memberships:
`2001 – 2015
`Western Society of Pediatric Research
`2001 –
`American College of Medical Genetics
`2002 – 2007
`American College of Human Genetics
`1998 – present American Academy of Pediatrics
`
`
`- Section on Genetics and Birth Defects
`
`
`- Section on Hospital Medicine
`
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`- Section on Complex Care
`
`Honors and Awards:
`1983
`Secretary, Oxford University Basketball Team
`1983
`“Blue” Varsity Letter Basketball, Oxford University
`1985, 1986
`Varsity Letter, Basketball University of Chicago
`1997, 1999
`Navy Achievement Medal, 2 awards
`1997
`Meritorious Unit Commendation
`1998
`Humanitarian Service Award
`2001
`Navy Commendation Award
`2002
`Young Investigator Award, Teratology Society
`2002
`David W Smith Pediatric Trainee Award, Western Society for Pediatric
`Research
`Mead Johnson Fellowship Award, Western Society for Pediatric Research
`Navy Meritorious Unit Commendation
`Fellow Award, Teratology Society
`Fellow Award, DWS Workshop on Malformations and Morphogenesis
`
`2002
`2002
`2004
`2004
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`2005
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`2010
`2013
`2014
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`Mead Johnson Young Investigator Award, Western Society for Pediatric
`Research
`Kaiser Excellence in Teach Award Nominee
`UC San Diego Academy of Clinical Scholars Nomination
`Saudi Arabian Cultural Mission-Department of Medical and Health Science
`Program
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`Contracts and Grants:
`1.
`Principle Investigator: “Maternal Diabetes alters Sonic Hedgehog expression in Sonic
`Hedgehog knockout mice.” University of California, San Diego Academic Senate
`S03057. (Completed)
`Co-investigator: “A Prospective, multicenter study of bronchiolitis admissions: etiology
`and disposition (BABY BREATHE STUDY). NIH U01A 167693. CSSD Division of
`Pediatric Hospital Medicine, San Diego, CA. (Completed)
`Producer and Principle Investigator: Immunization Practices among Military Providers,
`Practices and Education Program. Continuing Education Program for Armed Forces
`Pediatrics. $20,000 Grant Merck. (Completed June 2000)
`Site Principle Investigator: Efficacy of MMR compared to MMRV. (Completed 2001)
`Site Principle Investigator: “Case Control Surveillance for Birth Defects in Relation to
`Environmental Exposure,” Naval Medical Center, San Diego CIP #S-01-076. (No longer
`involved)
`Site Principle Investigator: “Case Control Surveillance for Birth Defects in Relation to
`Environmental Exposure,” Naval Hospital, Camp Pendleton CIP #S-01-076.
`Member of Dysmorphology Core “OTIS Autoimmune Diseases in Pregnancy Project.”
`University of California, San Diego FUNDING: Organization of Teratology Information
`Specialists (OTIS), Amgen. Study ID numbers: 20040246 Clinical Trials Identifier -
`NCT01017016. Active
`Dysmorphology Core Member, “Ready Set Go NIH 5U24AA014815-10.” National
`Institute of Alcohol Abuse and Alcoholism” and University of California, San Diego.
`Principle Investigator: “Keith Vaux / Kelly Frazer Kabuki Syndrome study” RCHSD
`12401. March 23, 2010. (Completed)
`Co-investigator: West Coast Kawasaki Disease Epidemiology Consortium. UCSD
`110306. (Completed)
`Co-Principle Investigator: CIRM RFA 12-02 (CIRM Tissue Collection for Disease
`Modeling Awards) Grant IT1-06611, UCSD IRB Project 090293. December 2013-June
`2016
`Clinical Director NIH 7R01 MH076431-07 Sebat (PI) 9/30/05 - 11/30/2017. The role of
`germline mutation and parental age in Autism Spectrum Disorders.
`a. The major goals of this project are: Identifying hotspots for germline mutation,
`examining intrinsic and extrinisic factors that influence mutation rates, and
`determining the role of hotspots in disease risk.
`b. Role: Recruitment, phenotyping, clinical evaluation, results confirmation.
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`10.
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`Clinical Director: SFARI 275724 Sebat (PI) 8/1/2013 – 7/30/2016. Simons Foundation
`Mutation Hotspots in Non-coding DNA and the Missing Heritability of ASD.
`a. The major goal of this project is the identification of novel autism risk factors by
`targeted high throughput sequencing of non-coding DNA in autism families.
`b. Role: Clinician, patient recruitment, enrollment, phenotyping and confirmation of
`research findings.
`Principle Investigator: Autism and Neurogenetics Fund UCSD F. April 2015-ongoing.
`Support
`
`External Professional Activities
`2002 - 2004
`President and CEO, Alpha Medical Associates (Imaging Care Center)
`2004 – 2011
`Advisor, Health Disk LLC (Health IT start-up)
`2005 – 2011
`Consultant, Proficio LLC (Health IT consulting)
`2002 – present Board Member, Autism Tree Foundation
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`2008 – present EPIC Systems, National Genomics Committee
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`Reviewer
`2006 - present
`2013, 2014
`2016,2017
`
`Reviewer, American Journal of Medical Genetics
`Reviewer, Society for Hospital Medicine – International Conference Abstracts
`Reviewer – Cold Spring Harbor Molecular Case Studies
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`Presentations and Lectures:
`1.
`“Overview of a Pediatric Transport Service,” Pediatric Transport Medicine Conference,
`San Diego CA, 1996.
`“Management of Pediatric Airway During Transport,” Pediatric Transport Medicine
`Conference, San Diego, CA, 1996.
`“Conotruncal Heart Lesions, History and Future Direction,” Chief Resident Lecture,
`Naval Medical Center, San Diego Grand Rounds, 2007.
`“Back to Sleep Program,” Guam Department of Public Health, Guam, USA, 1998.
`“Asthma Care,” Guam Department of Public Health, Guam, USA, 1998.
`“Multiple Circumferential Constriction Rings with Lineal Creases Over the Tibia, Mental
`Retardation and Autosomal Recessive Inheritance,” DWS Workshop on
`Morphogenesis, San Diego, CA, August 2001.
`“Cyclophophamide, Methotrexate and Cytarabin Embryopathy: Is Apoptosis the
`Common Pathway?” Platform Presentation, Western Society for Pediatric Research,
`Carmel, CA, January 2002.
`“Cyclophophamide Embryopathy,” Platform Presentation, Teratology Society Meeting,
`Scottsdale, AZ, Student Award Winner, February 2002.
`“Dysmorphology and Genetics in the Community Nursery,” 36th Annual Uniformed
`Services Pediatric Seminar, American Academy of Pediatrics, San Diego, CA 2002.
`“The Fetal Alcohol Syndrome,” San Diego County Public Health Nursing, Annual
`Meeting, San Diego, CA, 2003.
`“CHARGE Association,” Perinatal Care Continuing Education Conference, Naval
`Medical Center, San Diego, CA, 2003.
`“Developmental Outcome in Kabuki Syndrome,” Platform Presentation, DWS Workshop
`on Morphogenesis, Greenville, SC, August 2003.
`“The Neonatal Phenotype of Kabuki Syndrome,” Platform presentation, DWS Workshop
`on Morphogenesis, Greenville, SC, August 2003.
`“Expanded Newborn Screening Program, Disparity Among Military Dependents,” World
`Congress on Disabilities, Orlando, FL, September 19, 2003.
`“Placental Abnormalities associated with Misoprostol Administration,” Platform
`Presentation, Teratology Society Annual Meeting, Vancouver, British Columbia, Canada,
`Student Award Winner, June 30, 2004.
`“Abnormal Pax1 expression is a factor in vertebral and rib anomalies seen in VATER
`association,” Platform Presentation, DWS Meeting, Snowbird, Utah, August 18-21,
`2004.
`“Placental Anomalies in Artificial Reproductive Technology Conceived Pregnancies.”
`Platform Presentation, DWS meeting. Snowbird, Utah. August 18-21, 2004.
`“Diabetic Embryopathy,” Pediatric Grand Rounds, Tripler Army Medical Center, HI,
`March 22, 2004.
`“Genetic causes of IUGR,” Pediatric Grand Rounds, Tripler Army Medical Center, HI,
`March 24, 2004.
`“PAX 1 Expression is abnormal in VATER syndrome,” Pediatric Pathology Grand
`Rounds, University of California, San Diego, May 19, 2004.
`“Genetics in the Newborn Nursery,” Southern California Association of Neonatal Nurses
`(SCANN), Annual Meeting, UCSD, March 2005.
`“Ziprasidone Embryopathy: Are the defects caused by pharmacologically induced fetal
`arrhythmias?” Platform Presentation, Western Society for Pediatric Research, Carmel,
`CA. Young Investigator Award Winner, January 2005.
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`“Conjoined Twins: Fission or fusion, could the answer be so simple?” Platform
`Presentation, Judy Hall Symposium of Congenital Anomalies and Developmental
`Mechanisms, Carmel, CA, February 5, 2005.
`Left-Right Axis Defects in Infants of Women with Diabetes: Further Evidence of the Link
`between Maternal Diabetes and Sonic Hedgehog,” DWS Workshop on Morphogenesis,
`Vancouver, BC, August 2005.
`“Genetic Conditions Incompatible with Life,” Continuing Medical Education Conference,
`Southern California Association of Neonatal Nurses (SCANN), San Diego Hospice and
`Palliative Care, May 2006.
`“Capillary Malformation, Arterial Venous Malformation Syndrome,” Platform
`Presentation, DWS Workshop on Morphogenesis, September 2006.
`“Development of the Vascular System,” Cedar Sinai Genetics Grand Rounds, Los
`Angeles, CA, December 2006.
`“Recognition, Management and Etiology of Pediatric Seizures,” Pediatrics and Hospital
`Medicine Fellowship Core Curriculum, October 8, 2008.
`“The Technology Dependent Child,” Pediatrics and Hospital Medicine Fellowship Core
`Curriculum, April 15, 2009.
`“Evidence Based Medicine and Leading a Health Care Team,” UCSD Pediatric
`Fellowship Core Curriculum, San Diego, CA, October 10 2009.
`“New Genetics and Personalized Medicine,” World Congress on Disabilities,
`Jacksonville, FL, November 19, 2009.
`“Genetics Primer,” UCSD Pediatric Resident Core Curriculum, San Diego, CA, February
`17, 2010.
`“Common Syndromes and Genomic Sciences: How genetics will change our
`understanding of human disease,” Southern California Association of Neonatal Nurses
`(SCANN), San Diego, CA, May 10, 2010.
`“Trisomy 13 and 18, a Review and Discussion,” RCHSD Ethics Forum, San Diego, CA,
`November 6, 2010.
`“Genetic Disorders of Connective Diseases,” UCSD Pediatric Resident Core
`Curriculum, San Diego, CA, November 19, 2010.
`“Recognition, Management and Etiology of Pediatric Seizures,” Pediatrics and Hospital
`Medicine Fellowship Core Curriculum, San Diego, CA, 2011.
`“The Technology Dependent Child,” Pediatrics and Hospital Medicine Fellowship Core
`Curriculum, San Diego, CA, 2011.
`“Evidence Based Medicine,” UCSD Pediatric Fellowship Core Curriculum, San Diego,
`CA, 2011.
`“Metabolic Emergencies,” Childrens’ Hospital Emergency Transport Team Core Lecture
`Series, San Diego, CA, February 8, 2011.
`“Metabolic Emergencies,” Children’s Hospital Emergency Transport Team Core Lecture
`Series, San Diego, CA, November 8, 2011.
`“Middle East Siblings with Complex Genetic Defects,” RCHSD Patient Care Operations
`Council, November 8, 2011.
`“Evidence Based Medicine,” Pediatrics and Hospital Medicine Fellowship Core
`Curriculum, November 9, 2011.
`“Seizures” and “Caring for the Medically Complex Child,” Pediatrics and Hospital
`Medicine Fellowship Core Curriculum, San Diego, CA, November 9, 2011.
`“Update on Genetic Testing and its impact on Patient Care,” Pediatric Grand Rounds at
`Scripps Mercy Hospital, March 15, 2012.
`“Evidence Based Medicine,” UCSD Pediatric Fellowship Core Curriculum, San Diego,
`CA, 2012.
`“The Technology Dependent Child,” Pediatrics and Hospital Medicine Fellowship Core
`Curriculum, San Diego, CA, 2012.
`“Undiagnosed Neurogenetic Diseases,” UCSD Pediatric Resident Core Curriculum, San
`Diego, CA, February 4, 2013.
`“Undiagnosed Neurogenetic Diseases”, Pediatric Resident Core Conference, San
`Diego, CA, February 4 2013.
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`“Advances in Genetics: How will they impact your practice?” 27th Annual American
`Academy of Pediatrics Advances in the Practice of Pediatrics, San Diego, CA, March
`20, 2013.
`“Dermatologic Manifestations of Systemic Diseases” American Academy of Pediatrics
`Advances in the Practice of Pediatrics” San Diego, CA February 2014.
`“Visual Diagnosis, Genetic Diseases” American Academy of Pediatrics 28th Annual
`Advances in the Practice of Pediatrics. San Diego, CA February 2014.
`“Trisomy 21” Plenary, 2014 American Academy of Pediatrics, National Conference and
`Exhibition, San Diego October 2014.
`UC San Diego Department of Medicine Grand Rounds “Precision Medicine” February
`18, 2015.
`TedMed UCSD moderator for Session 1 - Human Explorations, from 6-8:30 pm on
`Wednesday November 18th.
`
`Students:
`
`1999-2000 - Michael Nielson, MD NMCSD Pediatrics Residency Advisor
`2009-2012 - Amira Baker, MD UCSD Pediatrics Residency Advisor
`
`2012 - Jamie Barrea, MD UCSD Pediatrics Senior CPC Advisor
`
`2013 - Jill Wall, MD UCSD Pediatrics Senior CPC Advisor
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`2013 - Amanda Terry, MD UCSD Pediatrics Senior CPC Advisor
`
`2013 - Erica Sanford, MD UCSD Pediatrics Senior CPC Advisor
`
`2013-2014 Faris Althubaiti, CORE Scholar, Clinical research MAS committee member
`
`2015-2015 Omar Balobaid CORE Scholar Saudi Arabia
`
`2014-2015 Holly Cooper MS4 ISP project
`
`
`Video Courses:
`1.
`Producer and Moderator: Immunization Practices among Military Providers, Practices
`and Education Program. Continuing Education Program for Armed Forces Pediatrics.
`(Completed June 2000).
`Current Treatment Therapies for Spasticity in People with Cerebral Palsy and
`Developmental Disabilities: Part 1-in cooperation with EPliveOnline. Recorded March 31,
`2009.
`Current Treatment Therapies for Spasticity in People with Cerebral Palsy and
`Developmental Disabilities: Part 2-In cooperation with EPliveOnline. Recorded April 28,
`2009.
`Recognizing and Managing Seizures within the School Setting. In cooperation with
`EPliveOnline. Recorded August 11 2009.
`Online Course Coordinator: UCSD/Rady Children’s Hospital San Diego Grand Rounds
`Series.
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`Media:
`1.
`2.
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`3.
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`4.
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`5.
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`6.
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`Featured Physician: KUSI – Kids Care Fest Sunday, September 26, 2010, 7:40 AM.
`Producer: Dr. Peter Yorgin, Western Society of Pediatric Nephrology, San Diego, CA.
`BRIEF COMMUNICATIONS 6 - CRISIS IN THE DIALYSIS UNIT: HOW DO WE
`RESPOND? February 5, 2011, 4:15-4:45 PM.
`Featured Physician; “Luke, the gift of a lifetime” The San Diego Union-Tribune Kids’
`Newsday, October 2010 http://www.helpsdkids.org/page.aspx?pid=666
`Featured Physician: Dangers of Small Magnetic Balls, KNSD NBC San Diego News San
`Diego, CA, Thursday, February 17, 2011 4pm and 11pm, est. audience: 36,486.
`Producer: Dr. Ami Doshi. "Comfort Code." Educational Innovations Video presented at
`the American Academy of Hospice and Palliative Medicine, Vancouver, BC, February 18,
`2011. The session was Educational Exchange, and featured 6 different educational
`innovations. Results of study published Journal of Pain and Symptom Management
`Volume 41, Issue 1, Pages 249-250, January 2011.
`Featured Physician: Rattlesnake Bite Victim's Father Explains Actions, KNSD NBC San
`Diego by Tony Shin, Tuesday, April 24, 2012, 8:09 am. The father of a rattlesnake bite
`victim defends his actions, saying he had to drive the child away from the family's home
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`because they didn't have a home phone, or cellphone reception. NBC 7's Tony Shin
`spoke with the father and with Keith Vaux, MD at Rady Children's Hospital.
`Featured Physician: Baby left in hot car; shopping mom held, U-T San Diego by Debbi
`Baker July 25, 2012, 12:01 a.m.; updated July 26, 2012, 8:31 p.m.
`Featured Physician: California Mom Charged With Leaving Baby in Hot Car, ABC World
`News with Diane Sawyer by Audree Steinberg, Friday, July 27, 2012.
`Featured Physician: Health Risks with Energy Drinks, KUSI News, San Diego, CA by
`Bridget Naso, Tuesday, November 20, 2012, 8:42 PM PST.
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`7.
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`Other Activities:
`2003 – present San Diego Yacht Club Sailing Foundation
`2008 – present Buffalo Beach Committee
`2012- present
`USTA Tennis participant
`
`2001 – 2007
`
`Student Instructional Activity:
`1997 – 2008
`Volunteer Clinical Faculty, University of California, San Diego, Department of
`Pediatrics
`Volunteer Clinical Faculty, University of California, San Diego,
`Dysmorphology and Medical Genetics Elective Rotation
`2008 – present University of California MS3 Inpatient Rotation Core lecture series
`2008 – present RCHSD Inpatient Ward attending
`2009 – 2010
`Faculty Advisor, University of California Pediatric Intern
`2009
`Interviewer, Pediatric Intern Selection
`2010 – 2011
`Resident Faculty Advisor, University of California Pediatric Residency
`2010
`Interviewer, Pediatric Intern Selection Committee
`2011
`CPC Mentor – Senior Resident
`2012
`CPC Mentor – Senior Resident
`2013
`CPC Mentor – Senior Resident
`2014
`CPC Mentor – Senior Resident
`2008 – 2014
`Core lectures for Medical Student and Resident Inpatient Service
`2008 – 2015
`Core lecture series for Pediatric Hospital Medicine Fellows
`
`Publications:
`Rydman, R.J., Yale, S.M., Vaux, K.K., Mullner, R.M. “Preventive Control of AIDS: A
`1.
`Survey of Dental Practices in a Large Urban Area.” Journal of Public Health Dentistry.
`Vol. 50(1), 1990.
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`2.
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`6.
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`Rydman, R.J., Mullner, R.M., Vaux, K.K., Kampe, L. “Using the Emergency Department
`Medical Record in Financial and Epidemiologic Research.” Journal of Health Information
`Management Research. Vol. 1(1), 1992.
`
`Wheeler, D.S., Vazquez, W.D., Vaux, K.K., Poss, W.B. “Streptococcal pyomyositis: case
`report and review.” Pediatr Emerg Care. 14(6): 411-2, 1998.
`
`Wheeler, D.S., Sperring, J.L., Vaux, K.K., Poss, W.B. “Development of a Pediatric
`critical care transport team: experience at a military medical center.” Mil Med. 164(3):
`188-93, 1999.
`
`Wheeler, D.S., Vaux, K.K., Starr, S.R., Poss, W.B. “The Pediatric Critical Care
`Experience at Naval Hospital Guam: Suggestions for critical care training during
`residency.” Mil Med. 165(6):441-4, 2000.
`
`Wheeler, D.S., Vaux, K.K., Tam, D.A. “Use of gabapentin in the treatment of childhood
`reflex sympathetic dystrophy.” Pediatr Neurol. 22(3): 220-1, 2000.
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`Vaux, K.K., Wojtczak, H., Benirschke, K., Jones, K.L. “Vocal Cord Abnormalities in
`Williams Syndrome: A Further Manifestation of Elastin Deficiency.” Am J Med Genet.
`119A(3): 302-304, 2003.
`
`Vaux KK, Khaole N, Jones KL. “Cyclophophamide, Methotrexate and Cytarabin
`Embryopathy: Is Apoptosis the Common Pathway?” Clinical and Molecular Teratology.
`67(6) 403-8, 2003.
`
`Wheeler DS, Vaux KK, 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. 19(6):385-92, 2003.
`
`Emery SC, Vaux KK, Pretorius D, Masliah E, Benirschke K. Acardiac Twin with
`Externalized Intestine Adherent to Placenta: Unusual Manifestation of Omphalocele.
`Pediatric Dev Pathol. 7(1) 2004.
`
`Vaux KK, Benirschke K, Jones, MC, 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.
`
`Vaux KK, Hudgins L, Roeder E, Curry C, Jones MC, Jones KL. “The Neonatal
`Phenotype of Kabuki Syndrome.” Am J Med Genet A. 2005 Jan 30;132A(3):244-7.
`
`Vaux KK, Jones MC, Jones KL, Schelley S, Hudgins L. “Developmental Outcome in
`Kabuki Syndrome” Am J Med Genet A. 2005 Jan 30;132A(3):263-4.
`
`N. Revencu, L.M. Boon, J.B. Mulliken, O. Enjolras, M.R. Cordisco, P.E. Burrows, P.H.
`Clapuyt, F. Hammer, J. Dubois, E. Baselga, F.Brancati, B. Dallapiccola, R. Carder, G.
`Fischer, I. Frieden, J Harper, P. Gritters, J Johnson Patel, C. Labrèze, L. Martorell, H. J.
`Paltiel, A. Pohl, J. Prendiville, I. Quere, D.H. Siegel, E.M. Valente, K.K. Vaux, L. Weibel,
`J.M. Ceballos Quintal, D. Chitayat and M. Vikkula. “Parkes Weber syndrome, vein of
`Galen aneurysmal malformation, and other fast-flow vascular anomalies and specific
`neural tumors associated with RASA1 mutations.” Human Mutation. 2008 Apr 29.
`
`Jones KL, Webster WS, Vaux KK, 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.
`
`Dimmock D, 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. “Novel human
`pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.” Hum Genet. 2009
`Aug;126(2):341.
`
`Baughn MR, Vaux K, Masliah E. Placenta Accreta in a Separate Uterine Horn. Pediatr
`Dev Pathol. 2009 Jul 28:1.
`
`Hackett LK, Tarsa M, Wolfson TJ, Kaplan G, Vaux KK, Pretorius DH. Use of multiplanar
`3-dimensional ultrasonography for prenatal sex identification. J Ultrasound Med. 2010
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`Feb;29(2):195-202.
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`Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J,
`Gambello MJ, Vaux K, Ward P, O'Brien WE, Fang P. The role of molecular testing and
`enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet A.
`2010 Apr;152A(4):1061.
`
`Eichenfield LF, Krakowski AC, Piggott C, Del Rosso J, Baldwin H, Friedlander SF, Levy
`M, Lucky A, Mancini AJ, Orlow SJ, Yan AC, Vaux KK, 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.
`
`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.
`
`Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The Genetic Landscape of Autism
`Spectrum Disorders. Developmental Medicine and Child Neurology. 2013 Oct 1.
`56(1):12-8
`
`Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy,
`Andrew D. Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira
`Masri, Hulya Kayserili, Jumana Y. Al-Aama, Ghada M.H. Abdel-Salam, Ariana
`Karminejad, Majdi Kara, Bulent Kara, Bita Bozorgmehri, Tawfeg Ben-Omran, Faezeh
`Mojahedi, Iman Gamal El Din Mahmoud, Naima Bouslam, Ahmed Bouhouche, Ali
`Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila
`Selim, Nabil Shehata, Nasir Al-Allawi, P.S. Bindu, Matloob Azam, Murat Gunel, Ahmet
`Caglayan, Kaya Bilguvar, Asli Tolun, Mahmoud Y. Issa, Jana Schroth, Emily G. Spencer,
`Rasim O. Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham
`Megahed, Alexandra Durr, Alexis Brice, Giovanni Stevanin, Stacy Gabriel, Trey Ideker,
`Joseph G. Gleeson. Exome Sequencing Links Corticospinal Motor Neuron Disease to
`Common Neurodegenerative Disorders. Science. 2014 Jan 31;343(6170):506-11.
`
`Stephanie Feldstein; Maryam Afshar; Andrew Krakowski; Shehla Admani; Keith Vaux;
`Lawrence Eichenfield. Practice Gaps Between Guidelines and Clinical Practice in the
`Treatment of Pediatric and Adolescent Patients with Acne: Results of a Single-center,
`Prospective Study. Pediatric Dermatology. 2014. Sep 31(5):650–651.
`
`Chambers, CD; Zellner, JA, Feldman, H; Akshoomoff, N; Xu, R; Coles, CD; Kable, JA;
`Manning, M; Adam, M; Vaux, K; Developing A Valid Prevalence Estimate For Fetal
`Alcohol Spectrum Disorders In A Large, Diverse Urban US Community. Alcoholism:
`Clinical & Experimental Research. 2015 June: 260A
`
`Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB,
`Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL,
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`30.
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`31.
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`Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu
`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. Nature Genetics. 2015 May;47(5):528-34.
`
`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 KK, 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. Nature Genetics. 2015 Jul;
`47(7):809-13.
`
`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, İncecik 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 KK, 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.
`
`Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti
`B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Extending the mutation spectrum for
`Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73
`gene. American Journal of Medical Genetics. Part A. 2016; 170A(4):992-8.
`
`Ilse Meerschaut, Justine Pètre, Nicole Revencu, Damien Lederer, Milen Vilenov, Thomy
`de Ravel, Djalila Mekahli, Keith Vaux, Jonathan Sebat, Fadi Hamdan, Jacques
`Michaud, Pablo Lapunzina, Nataliya Di Donato, Louanne Hudgins, Andrea Hanson-
`Kahn, Bruno Dallapiccola, Antonio Novelli, Joris Andrieux, Magdalena Budisteanu and
`Bert Callewaert. “FOXP1-related Intellectual Disability Syndrome: a Recognizable
`Entity.” Belgian Journal of Pediatrics, 2016 18:99–99.
`
`Brandler WM, Antaki D, Gujral M, Noor M, Rosanio G, Chapman TR, Barrera DJ, Lin
`GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fuentes
`Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile
`MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N,
`Leal SM, Pierce K, Courchesne E, Lakoucheva LM, Corsello C, and Sebat J. Frequency
`and Complexity of De Novo Structural Mutation in Autism. American J Human
`Genetics. 2016 Apr 7;98(4):667-79.
`
`Other Publications:
`Vaux KK. “A Clinical Guide to Inherited Metabolic Diseases, 2nd ed.” J Hered. 94(2):
`1.
`195, 2003.
`Stellwagen LM, Hubbard E, Vaux, KK. “Look For the ‘Stuck Baby’ to Identify Congenital
`Torticollis” Contemporary Pediatrics. March 18, 2004.
`
`2.
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`3.
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`Vaux KK, Chambers C. “Fetal Alcohol Syndrome” eMedicine from WebMD. Sept 2006,
`Updated October 17, 2015. Available at: http://emedicine.medscape.com/article/974016-
`overview.
`
`Chapters:
`Vaux KK, Chan L, Jones KL: Teratology. In Spitzer, Critical Care of the Neonate, Third
`1.
`Edition. April 2005.
`Hudgins L and Vaux KK. Pectoral Girdle, Spine, Ribs, and Pelvic Girdle. In Human
`Malformations and Related Anomalies, 2nd edition. April 2005.
`
`2.
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`2.
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`3.
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`4.
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`5.
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`6.
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`7.
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`Abstracts:
`Vaux KK, King JC, Jones KL. “Multiple Circumferential Constriction Rings with Lineal
`1.
`Creases Over the Tibia, Mental Retardation and Autosomal Recessive Inheritance.”
`DWS Workshop on Morphogenesis, San Diego, CA. Proceedings of the Greenwood
`Genetic Center. 20:168-169. 2001.
`Vaux KK, Khaole N, Jones KL. “Cyclophophamide, Methotrexate and Cytarabin
`Embryopathy: Is Apoptosis the Common Pathway?” Platform Presentation, Western
`Society for Pediatric Research, Carmel CA. David W. Smith Young Investigator Award.
`Vaux KK, Khaole N, Jones KL. “Cyclophophamide Embryopathy.” Platform Presentation,
`Teratology Society Meeting, Scottsdale AZ. Terato