Anna Scott, PhD

Anna Scott, PhD

Laboratory Medicine

Children's Title: Co-Director, Biochemical Genetics Laboratory

  • Other Publications

    • Course MM, Scott AI, Schoor C, Hsieh CH, Papakyrikos AM, Winter D, Cowan TM, Wang X
      Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism.
      29563254 Molecular biology of the cell, 2018 May 15 : 29(10)1219-1227 PMCID:PMC5935071
    • Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q
      Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
      29543224 Genetics in medicine : official journal of the American College of Medical Genetics, 2018 March 15
    • Gwinn DM, Lee AG, Briones-Martin-Del-Campo M, Conn CS, Simpson DR, Scott AI, Le A, Cowan TM, Ruggero D, Sweet-Cordero EA
      Oncogenic KRAS Regulates Amino Acid Homeostasis and Asparagine Biosynthesis via ATF4 and Alters Sensitivity to L-Asparaginase.
      29316436 Cancer cell, 2018 Jan. 8 : 33(1)91-107.e6 PMCID:PMC5761662
    • Scott AI, Cusmano-Ozog K, Enns GM, Cowan TM
      Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
      29032949 Molecular genetics and metabolism, 2017 Dec. : 122(4)156-159
    • Strovel ET, Cowan TM, Scott AI, Wolf B
      Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
      28682309 Genetics in medicine : official journal of the American College of Medical Genetics, 2017 Oct. : 19(10)
    • Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM
      Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
      27488560 Journal of inherited metabolic disease, 2016 Nov. : 39(6)821-829
    • Scott AI, Mendelsohn BA, Le A, Cowan TM
      The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography.
      26947969 Clinica chimica acta; international journal of clinical chemistry, 2016 May 1 : 456149-150
    • Matthews MM, Thomas JM, Zheng Y, Tran K, Phelps KJ, Scott AI, Havel J, Fisher AJ, Beal PA
      Structures of human ADAR2 bound to dsRNA reveal base-flipping mechanism and basis for site selectivity.
      27065196 Nature structural and molecular biology, 2016 May : 23(5)426-33 PMCID:PMC4918759