Dr. Boerkoel is on Doximity
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OfficeTranslational Medicine Consulting
PO Box 45
Naalehu, HI 96772Phone(808) 209-0470
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Education & Training
- University of WashingtonResidency, Pediatrics, 1993 - 1996
- Case Western Reserve University School of MedicineClass of 1993
Publications & Presentations
- Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, Sara Bertelli, Grace E. VanNoy, Patricia Ellen Grant, Anne H. O’Donnell-Luria, Zaheer Valivullah, Alysia Ker...> ;American Journal of Human Genetics. 2021 Aug 5
- An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Hui-Lin Chin, Kieran O'Neill, Kristal Louie, Lindsay Brown, Kamilla Schlade-Bartusiak, Patrice Eydoux, Rosemarie Rupps, Ali Farahani, Cornelius F. Boerkoel, Steven J.M...> ;American Journal of Medical Genetics Part A. 2021 May 21
- Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancerF. Graeme Frost, Praveen F. Cherukuri, Samuel Milanovich, Cornelius F. Boerkoel> ;Journal of Cellular and Molecular Medicine. 2020 Jan 1
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- 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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