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Roberta A. Pagon, MD

On staff since March 1979

Roberta A. Pagon, MD, is professor of pediatrics and adjunct professor of ophthalmology at the University of Washington School of Medicine. She is principal investigator for GeneTests: Genetic Testing Information Resource (www.genetests.org), a widely used NIH-funded Internet resource that helps clinicians identify genetic testing laboratories and apply genetic testing to the diagnosis, management, and genetic counseling of patients and their families with inherited disorders.

Pagon’s clinical interests have included the identification and management of inherited birth defect syndromes, hereditary eye disorders, and disorders of sex development. Pagon has served on the Board of Directors of the American Society of Human Genetics, the Board of Directors of the American Board of Medical Genetics, and the Board of Scientific Counselors, the National Human Genome Research Institute of the NIH.

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Overview
Awards and Honors
Publications

Overview

Medical/Professional School: Harvard Medical School, Boston
Residency: Pediatrics, University of Washington, Seattle
Fellowship: Medical Genetics, University of Washington, Seattle
Clinical Interests: Clinical interests: syndrome identification inherited eye disease, disorders of sexual differentiation, Research Interests: Genetics, genetic testing information resources (i.e. www.genetests.org)
Research Focus Area: Genetics and Developmental Biology

Awards and Honors

Award Name	Award Description	Awarded By	Award Date
Seattle Magazine Top Doctor - 2011	Seattle Magazine Top Doctor - 2011	Seattle Magazine	2011

Publications

Partial ATRX gene duplication causes ATR-X syndrome.
American journal of medical genetics. Part A , 2009 Oct: 2317-20

Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.
American journal of epidemiology , 2009 Aug 1: 269-79

Internet resources in medical genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2009 Jul: Unit 9.12

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
The Journal of molecular diagnostics : JMD , 2009 Mar: 162-71

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
The Journal of molecular diagnostics : JMD , 2008 Sep: 459-68

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May: 343-8

2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.
American journal of human genetics , 2007 Oct: 658-9

A Gender Assessment Team: experience with 250 patients over a period of 25 years.
Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Jun: 348-57

Internet resources in Medical Genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2006 Aug: Unit 9.12

GeneTests: an online genetic information resource for health care providers.
Journal of the Medical Library Association : JMLA , 2006 Jul: 343-8

Genetic testing: when to test, when to refer.
American family physician , 2005 Jul 1: 33-4

Molecular genetic testing for inherited disorders.
Expert review of molecular diagnostics , 2004 Mar: 135-40

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Human molecular genetics , 2003 Jun 15: 1439-47

Genetic testing for disease susceptibilities: consequences for genetic counseling.
Trends in molecular medicine , 2002 Jun: 306-7

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
American journal of medical genetics , 2002 May 15: 271-7

GeneTests-GeneClinics: genetic testing information for a growing audience.
Human mutation , 2002 May: 501-9

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Roberta A. Pagon, MD

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