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Office
Translational Medicine Consulting
PO Box 45
Naalehu, HI 96772Phone+1 808-209-0470
Education & Training
University of WashingtonResidency, Pediatrics, 1993 - 1996
Case Western Reserve University School of MedicineClass of 1993
Certifications & Licensure
SD State Medical License Active through 2021
MI State Medical License 1997 - 2009
TX State Medical License 1998 - 2007
WA State Medical License 1993 - 1996- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 211 citationsMutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.Albena Jordanova, P. De Jonghe, Cornelius F. Boerkoel, Hiroshi Takashima, E. De Vriendt
Brain. 2003-03-01 - 14 citationsMitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.Megan S. Kane, Mariska Davids, Christopher S. Adams, Lynne A. Wolfe, Helen Wing-Hong Cheung
American Journal of Human Genetics. 2016-02-04 - 88 citationsGlycosylation, Hypogammaglobulinemia, and Resistance to Viral InfectionsMohammed A. Sadat, Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo G. Kaplan
The New England Journal of Medicine. 2014-04-23
Grant Support
- A Mouse Model For Schimke Immuno-Osseous DysplasiaNational Institute Of Diabetes And Digestive And Kidney Diseases2006
- A Mouse Model For Schimke Immuno-Osseous DysplasiaNational Institute Of Diabetes And Digestive And Kidney Diseases2005
- Characterization Of Smarcal1:Its Expression/InteractorsNational Institute Of Diabetes And Digestive And Kidney Diseases2002–2003
- A Murine Model Of Smith-Magenis SyndromeNational Institute Of Diabetes And Digestive And Kidney Diseases1999–2003
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