Skip to main content
Rachel N. Palmquist

Rachel N. Palmquist, MS, CGC

Languages spoken: English
  • 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 Counseling

    Education 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

    1. 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)
    2. 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)
    3. 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)
  • News & Podcasts