Donna M Martin
Ravitz Foundation Endowed Professor of Pediatrics
Chair, Department of Pediatrics
Professor of Pediatrics and Professor of Human Genetics
Pediatrics
D3109 Medical Professional Building
Ann Arbor, MI 48109-5647
[email protected]

Available to mentor

Donna M Martin
Professor
  • About
  • Links
  • Center Memberships
  • Research Overview
  • Recent Publications
  • About

    Dr. Martin is a Professor of Pediatrics and Human Genetics. She is a board-certified clinical geneticist and chair of the Department of Pediatrics.

    Links
    • https://martin.lab.medicine.umich.edu/
    Center Memberships
    • Center Member
      Taubman Institute
    • Center Member
      Precision Health Initiative
    • Center Member
      Center for Cell Plasticity and Organ Design
    Research Overview

    Dr. Martin's research focuses on developmental disorders affecting the nervous system, including hearing/vision loss, autism, and intellectual disability. Her group studies human genetic conditions such as CHARGE syndrome, which results in congenital heart disease, deafblindness, and developmental/growth delays.

    Recent Publications See All Publications
    • Journal Article
      CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
      Gao J, Skidmore JM, Cimerman J, Ritter KE, Qiu J, Wilson LMQ, Raphael Y, Kwan KY, Martin DM. Proc Natl Acad Sci U S A, 2024 Mar 5; 121 (10): e2311720121 DOI:10.1073/pnas.2311720121
      PMID: 38408234
    • Journal Article
      CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
      Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Hum Genet, 2023 Oct; 142 (10): 1499 - 1517. DOI:10.1007/s00439-023-02581-x
      PMID: 37668839
    • Journal Article
      De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
      Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M, University of Washington Center for Mendelian Genomics , Chong JX, Bamshad MJ, Innes AM, Pierson TM, Mackay JP, Bielas SL, Martin DM. HGG Adv, 2023 Jul 13; 4 (3): 100198 DOI:10.1016/j.xhgg.2023.100198
      PMID: 37181331
    • Journal Article
      Practical considerations for reinterpretation of individual genetic variants.
      Appelbaum PS, Berger SM, Brokamp E, Brown HS, Burke W, Clayton EW, Evans BJ, Hamid R, Marchant GE, Martin DM, O'Connor BC, Pagán JA, Parens E, Roberts JL, Rowe J, Schneider J, Siegel K, Veenstra DL, Chung WK. Genet Med, 2023 May; 25 (5): 100801 DOI:10.1016/j.gim.2023.100801
      PMID: 36748709
    • Journal Article
      Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.
      Krueger LA, Bills JD, Lim ZY, Skidmore JM, Martin DM, Morris AC. Exp Eye Res, 2023 Jan; 226: 109299 DOI:10.1016/j.exer.2022.109299
      PMID: 36343670
    • Journal Article
      Epigenetic mechanisms of inner ear development.
      Balendran V, Ritter KE, Martin DM. Hear Res, 2022 Dec; 426: 108440 DOI:10.1016/j.heares.2022.108440
      PMID: 35063312
    • Journal Article
      Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.
      Ritter KE, Lynch SM, Gorris AM, Beyer LA, Kabara L, Dolan DF, Raphael Y, Martin DM. Hear Res, 2022 Dec; 426: 108633 DOI:10.1016/j.heares.2022.108633
      PMID: 36288662
    • Journal Article
      GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
      Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Madan-Khetarpal S, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H. J Clin Invest, 2022 Oct 3; 132 (19): DOI:10.1172/JCI159806
      PMID: 35917186
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