Dr. Boerkoel is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Connect with other colleagues in the same hospital or clinic
- Search all U.S. specialist profiles and refer a patient
- Read the latest clinical news and earn CME/CEU credits
Office
Translational Medicine Consulting
PO Box 45
Naalehu, HI 96772Phone+1 808-209-0470- Is this information wrong?
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
- 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, Ashley Moller-Hansen, Pierre Boerkoel, Julius O B Jacobsen, Christèle du Souich, Nan Zhang, Ken...> ;Genetics in Medicine. 2022 Jul 1
- 1 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, Shaopeng Gu, Frederick G Frost, Lindsay M Fricke, Krzysztof P Lubieniecki, Joanna M...> ;BMC Medical Genomics. 2022 Mar 14
- 2 citationsAn infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, Michael P Castaldo, Katherine Dixon, Kathryn Selby, Yaoqing Shen, Marie Wright, Cornelius F. Boerkoel, Glenda Hendson...> ;American Journal of Medical Genetics. Part A. 2021 Nov 26
- Join now to see all
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
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence: