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Office
4800 Sand Point Way Ne
Seattle, WA 98105Phone+1 206-987-2000- Is this information wrong?
Education & Training
- University of Tennessee Health Science Center College of MedicineClass of 1978
Certifications & Licensure
- WA State Medical License 1997 - 2025
Awards, Honors, & Recognition
- Elected Member The American Society for Clinical Investigation, 1996
Publications & Presentations
PubMed
- 190 citationsJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O'Roak, Dana M. Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden,...> ;Journal of Medical Genetics. 2015 Jun 19
- 35 citationsThe central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.Majeed Al-Mateen, Alexa Kanwit Craig, Phillip F. Chance> ;Journal of Child Neurology. 2014 Mar 1
- 26 citationsNon-recurrent SEPT9 duplications cause Hereditary Neuralgic Amyotrophy, , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2010 Sep 1
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Grant Support
- Core--GeneticsEunice Kennedy Shriver National Institute Of Child Health &Human Development2004–2008
- Molecular Basis Of Hereditary Neuralgic AmyotrophyNational Institute Of Neurological Disorders And Stroke1998–2007
- Identification And Characterization Of The ALS4 GeneNational Institute Of Neurological Disorders And Stroke2002–2006
- Genetics Of Juvenile Amyotrophic Lateral Sclerosis (JALS)National Institute Of Neurological Disorders And Stroke1997–2001
- Genetic Analysis In Hereditary NeuropathyNational Institute Of Neurological Disorders And Stroke1993–1996
- Genetic Analysis Of Charcot-Marie-Tooth DiseaseNational Institute Of Neurological Disorders And Stroke1989–1992
- Genetic Analysis Of Charcot-Marie-Tooth DiseaseNational Institute Of Neurological Disorders And Stroke1986–1987
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