Hunter R. Underhill
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Hunter R. Underhill, MD, PhD

Languages spoken: English

Clinical Locations

Primary Location

Eccles Primary Children's Outpatient Services

81 N Mario Capecchi Drive
Salt Lake City , UT 84113
801-213-3599
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  • Dr. Underhill graduated with a B.S. in Mathematics from Wake Forest University in Winston-Salem, North Carolina, then he obtained an M.D. from Wake Forest University School of Medicine. After an interesting diversion that included a General Surgery internship and two-years of Neurological Surgery residency training at the University of Washington in Seattle, Dr. Underhill entered graduate school and obtained a Ph.D. in Bioengineering from the University of Washington. He then completed a residency in Clinical Medical Genetics at the University of Washington. After residency, he completed a post-doc in Tumor Biology at the University of Washington, which was supported by the NIH. He subsequently completed a fellowship in Clinical Biochemical Genetics at the University of Utah. He is currently an Assistant Professor of Pediatrics at the University of the Utah in the Division of Medical Genetics. Dr. Underhill is board-certified in Medical Genetics and board-eligible in Clinical Biochemical Genetics. He has a special interest in inborn errors of metabolism, lysosomal storage disorders, and biochemical and genetic disorders that affect myelination. Dr. Underhill’s research interests include the development, translation, and application of advanced quantitative magnetic resonance imaging (MRI) techniques for studying diseases that affect white matter. He has an interest in the study of white matter in biochemical disorders, genetic disorders, brain tumors, traumatic brain injury, and neurodegenerative conditions. He also has an interest in exploiting circulating tumor DNA for early and recurrent detection of solid tumors in both adult and pediatric patients. Dr. Underhill has a particular interest in research that integrates molecular research for genotyping with MRI for phenotyping to explore relationships between changes in DNA and tumor behavior and to broaden the understanding of mutational effects on development.

    Specialties

    Board Certification

    American Board of Medical Genetics (Clinical Genetics)
    American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)

  • Dr. Underhill graduated with a B.S. in Mathematics from Wake Forest University in Winston-Salem, North Carolina, then he obtained an M.D. from Wake Forest University School of Medicine. After an interesting diversion that included a General Surgery internship and two-years of Neurological Surgery residency training at the University of Washington in Seattle, Dr. Underhill entered graduate school and obtained a Ph.D. in Bioengineering from the University of Washington. He then completed a residency in Clinical Medical Genetics at the University of Washington. After residency, he completed a post-doc in Tumor Biology at the University of Washington, which was supported by the NIH. He subsequently completed a fellowship in Clinical Biochemical Genetics at the University of Utah. He is currently an Assistant Professor of Pediatrics at the University of the Utah in the Division of Medical Genetics. Dr. Underhill is board-certified in Medical Genetics and board-eligible in Clinical Biochemical Genetics. He has a special interest in inborn errors of metabolism, lysosomal storage disorders, and biochemical and genetic disorders that affect myelination. Dr. Underhill’s research interests include the development, translation, and application of advanced quantitative magnetic resonance imaging (MRI) techniques for studying diseases that affect white matter. He has an interest in the study of white matter in biochemical disorders, genetic disorders, brain tumors, traumatic brain injury, and neurodegenerative conditions. He also has an interest in exploiting circulating tumor DNA for early and recurrent detection of solid tumors in both adult and pediatric patients. Dr. Underhill has a particular interest in research that integrates molecular research for genotyping with MRI for phenotyping to explore relationships between changes in DNA and tumor behavior and to broaden the understanding of mutational effects on development.

    Board Certification and Academic Information

    Academic Departments Pediatrics -Associate Professor
    Radiology & Imaging Sciences -Adjunct Associate Professor
    Academic Divisions Medical Genetics
    Board Certification
    American Board of Medical Genetics (Clinical Genetics)
    American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)

    Education history

    Other Training Aerospace Engineering - U.S. Naval Academy
    Undergraduate Mathematics - Wake Forest University B.S.
    Professional Medical Medicine - Wake Forest University School of Medicine M.D.
    Internship General Surgery - University of Washington Intern
    Residency Neurological Surgery - University of Washington Resident
    Postdoctoral Fellowship Radiology - University of Washington Postdoctoral Fellow
    Doctoral Training Bioengineering - University of Washington Ph.D.
    Residency Clinical Medical Genetics - University of Washington Resident
    Postdoctoral Fellowship Tumor Biology - University of Washington Postdoctoral Fellow
    Fellowship Clinical Biochemical Genetics - University of Utah School of Medicine Fellow

    Selected Publications

    Journal Article

    1. Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, ¿migiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein (2025). Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature genetics, 57(11), 2691-2704. (Read full publication)
    2. Johnson JW, Baradaran H, Morgan J, Odèen H, Friel E, Bailey C, Zielinski BA, Underhill H (2025). The insidious degeneration of white matter and cognitive decline in Fabry disease. PloS one, 20(11), e0325403. (Read full publication)
    3. Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson S (2024). Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. American journal of human genetics, 111(4), 729-741. (Read full publication)
    4. Underhill HR, Karsy M, Davidson CJ, Hellwig S, Stevenson S, Goold EA, Vincenti S, Sellers DL, Dean C, Harrison BE, Bronner MP, Colman H, Jensen R (2024). Subclonal Cancer Driver Mutations Are Prevalent in the Unresected Peritumoral Edema of Adult Diffuse Gliomas. Cancer research, 84(7), 1149-1164. (Read full publication)
    5. Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher S (2021). Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. Genetics in medicine, 23(3), 534-542. (Read full publication)
    6. Affolter KE, Hellwig S, Nix DA, Bronner MP, Thomas A, Fuertes CL, Hamil CL, Garrido-Laguna I, Scaife CL, Mulvihill SJ, Underhill H (2021). Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma. Neoplasia (New York, N.Y.), 23(9), 859-869. (Read full publication)
    7. Pedersen BS, Bhetariya PJ, Brown J, Kravitz SN, Marth G, Jensen RL, Bronner MP, Underhill HR, Quinlan A (2020). Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches. Genome medicine, 12(1), 62. (Read full publication)

    Review

    1. Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM, Somatic Mosaicism across Human Tissues Networ (2025). The Somatic Mosaicism across Human Tissues Network. Nature, 643(8070), 47-59. (Read full publication)
    2. Underhill H (2021). Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?. Molecular diagnosis & therapy, 25(4), 389-408. (Read full publication)