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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
- SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan
Annals of Neurology. 2024-11-01 - 3 citationsThe Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, Iulia Handra, Lynn Warnock
Genetics in Medicine. 2022-07-01 - 3 citationsEstablishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.Praveen F Cherukuri, Melissa M Soe, David E Condon, Shubhi Bartaria, Kaitlynn Meis
BMC Medical Genomics. 2022-03-14
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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