Kristen N Lee, MD

 Kristen Lee
Clinical Associate Professor of Pediatrics
Clinical Associate Professor of Internal Medicine
Program Associate, Division of Genetic Medicine, Medical School
Email:
[email protected]
Available to mentor
Kristen N Lee, MD
Kristen Lee
Clinical Associate Professor
  • Qualifications
  • Recent Publications

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    • Qualifications
    • Medical Biochemical Genetics Fellowship
      University of Michigan Medical School, Pediatrics, Ann Arbor, United States
      2020 - 2021
      Clinical Fellowship
    • Medical Genetics and Genomics Residency
      University of Michigan Medical School, Pediatrics, Ann Arbor, United States
      2017 - 2019
      Residency
    • Pediatrics Residency
      St. John Hospital & Medical Center, Pediatrics, Detroit, United States
      2014 - 2017
      Residency
    • Chief Resident, Pediatrics Residency
      St. John Hospital & Medical Center, Detroit, United States
      2016 - 2017
      Chief Resident

    Recent Publications

     See All Publications
    • Journal Article
      Expanding the phenotypic spectrum of FGF12-epilepsy—does prompt precision therapy affect outcomes?
      Arkush L, Karandasheva K, Ouellet F, D’Gama AM, Rosen Sheidley B, Liang NSY, Chau V, Costain G, Smith L, Alwis A, Eltze C, Poduri A, D’Arco F, Adams J, Lee K, Singh J, Brown APY, Nagendran A, Pode-Shakked B, Tzadok M, Ben Zeev B, McTague A. Npj Genomic Medicine, 2026 Dec 1; 11 (1): DOI:10.1038/s41525-026-00581-0
    • Preprint
      Gene therapy for metachromatic leukodystrophy: Compassionate use experience with atidarsagene autotemcel in the United States
      Orchard P, Ananth A, Braun J, Eisengart JB, Gupta AO, Lee K, Lund TC, Kayani S, Pillai NR, Shah AJ, Adang L. 2026 Sep 23; SSRN Electronic Journal, DOI:10.2139/ssrn.7467171
    • Preprint
      Hyperthyroidism-Associated Metabolic Decompensation in Maple Syrup Urine Disease
      Harrison MA, Sabu S, Dulchavsky M, Patterson R, Sandberg E, Lee K. 2026 Jul 7; SSRN Electronic Journal, DOI:10.2139/ssrn.7050536
    • Journal Article
      MON-571 Unusual presentation of mitochondrial disease with diabetes, lipomatosis, and metabolic dyslipidemia: clinical lessons to recognize phenotype for the endocrinologist
      Besci O, Uwandu CD, de Freitas MCF, Chase CL, Lee KN, Oral EA. Journal of the Endocrine Society, 2025 Oct 24; 9 (Supplement_1): bvaf149.937 DOI:10.1210/jendso/bvaf149.937
      PMID: PMC12544654
    • Journal Article
      KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
      van Oirsouw ASE, Hadders MA, Koetsier M, Peters EDJ, Assia Batzir N, Barakat TS, Baralle D, Beil A, Bonnet-Dupeyron M-N, Boone PM, Bouman A, Carere DA, Cogne B, Dunnington L, Farach LS, Genetti CA, Isidor B, Januel L, Joshi A, Lahiri N, Lee KN, Maya I, McEntagart M, Northrup H, Pujalte M, Richardson K, Walker S, Koeleman BPC, Alders M, van Jaarsveld RH, Oegema R. Hum Mol Genet, 2025 Aug 16; 34 (16): 1353 - 1367. DOI:10.1093/hmg/ddaf082
      PMID: PMC12361114
    • Journal Article
      Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature
      Kim G, Lee K, Pritchard A. American Journal of Medical Genetics, Part A, 2025 Apr 22; e64198 - e64198.
    • Journal Article
      Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
      Bruel A-L, Vulto-vanSilfhout AT, Bilan F, Le Guyader G, Gilbert-Dussardier B, Le Guillou X, Rondeau S, Rio M, Lee KN, Beil A, Suri M, Guerin F, Ruault V, Goldenberg A, Lecoquierre F, Bertsch N, Anderson R, Yang X-R, Inness M, Rikeros-Orozco E, Palomares-Bralo M, Hayek JC, Cech J, Jhuraney A, Kumar RD, Mercimek-Andrews S, Ambrose A, Wakeling EN, Wentzensen IM, Torti E, Gooch C, Faivre L, Philippe C, Duffourd Y, Vitobello A, Thauvin-Robinet C. Eur J Hum Genet, 2025 Jul; 33 (7): 852 - 859. DOI:10.1038/s41431-025-01809-w
      PMID: PMC12229443
    • Journal Article
      Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
      Bruel A-L, Vulto-vanSilfhout AT, Bilan F, Le Guyader G, Gilbert-Dussardier B, Le Guillou X, Rondeau S, Rio M, Lee KN, Beil A, Suri M, Guerin F, Ruault V, Goldenberg A, Lecoquierre F, Bertsch N, Anderson R, Yang X-R, Inness M, Rikeros-Orozco E, Palomares-Bralo M, Hayek JC, Cech J, Jhuraney A, Kumar RD, Mercimek-Andrews S, Ambrose A, Wakeling EN, Wentzensen IM, Torti E, Gooch C, Faivre L, Philippe C, Duffourd Y, Vitobello A, Thauvin-Robinet C. Eur J Hum Genet, 2025 Jul; 33 (7): 852 - 859. DOI:10.1038/s41431-025-01809-w
      PMID: PMC12229443