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Board Certification
American Board of Genetic Counseling -
Board Certification and Academic Information
Academic Departments Pediatrics -Primary Academic Divisions Neurology
Board Certification American Board of Genetic CounselingEducation history
Graduate Training Genetic Counseling - University of Utah M.S. Molecular Biology - University of Washington B.S. Undergraduate Biology - Edmonds Community College A.S. Selected Publications
Journal Article
- Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S (2022). Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Mol Genet Genomic Med, 10(4), e1888. (Read full article)
- Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res. (Read full article)
- Diness BR, Palmquist RN, Norling R, Hove H, Bundgaard H, Hertz JM, Kondziella D, Krieger D, Dun M, Grnborg S (2020). Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). J Neurol Sci, 415, 116897. (Read full article)
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