Donna M Martin, MD, PhD

Donna Martin, MD, PhD
Ravitz Foundation Endowed Professor of Pediatrics
Chair, Department of Pediatrics
Professor of Pediatrics and Professor of Human Genetics
Medical School
The University of Michigan
Pediatrics
D3109 Medical Professional Building
Ann Arbor, MI 48109-5647
[email protected]
Available to mentor
Donna M Martin, MD, PhD
Donna Martin, MD, PhD
Professor
  • About
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  • Research Overview
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  • 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
      Center for Cell Plasticity and Organ Design
    • Center Member
      AI and Digital Health Innovation

    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
      Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7
      Zhao J, Hu R, Lai KC, Liu Y, Carmichael GG, Martin DM, Lai L. Stem Cell Research, 2026 Mar 1; 91: DOI:10.1016/j.scr.2026.103912
      PMID: 41539084
    • Chapter
      Genetics of Deafblindness
      Widner AL, Martin DM. 2026 Jan 1; Communication with People Who are Deafblind Assessment and Intervention, 38 - 46. DOI:10.1093/oso/9780192887177.003.0004
    • Journal Article
      A novel cardiomyopathy phenotype linked to a CHD7 missense variant
      Park IY, Hsu CW, Bouazoune K, Espindola CE, Armond MHML, Coarfa C, Grimm SL, Martin JF, Martin DM, Walker CL. Scientific Reports, 2025 Dec 1; 15 (1): DOI:10.1038/s41598-025-00606-1
      PMID: 40461563
    • Journal Article
      A clinical and genotype-phenotype analysis of MACF1 variants
      Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. American Journal of Human Genetics, 2025 Oct 2; 112 (10): 2363 - 2380. DOI:10.1016/j.ajhg.2025.08.010
      PMID: 40925378
    • Journal Article
      Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series
      Gracie S, Deshpande P, Hollos P, De Dios K, Martin DM, Pritchard AB, Scott Schwoerer JA, Behrmann MR, Seaver LH, Brown K, Fernandez RJ, Larson A, Coffey E. American Journal of Medical Genetics Part A, 2025 Mar 1; 197 (3): DOI:10.1002/ajmg.a.63927
      PMID: 39503049
    • 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. Proceedings of the National Academy of Sciences of the United States of America, 2024 Mar 5; 121 (10): DOI:10.1073/pnas.2311720121
      PMID: 38408234
    • Journal Article
      A road map for the treatment of pediatric diffuse midline glioma
      Koschmann C, Al-Holou WN, Alonso MM, Anastas J, Bandopadhayay P, Barron T, Becher O, Cartaxo R, Castro MG, Chung C, Clausen M, Dang D, Doherty R, Duchatel R, Dun M, Filbin M, Franson A, Galban S, Garcia Moure M, Garton H, Gowda P, Marques JG, Hawkins C, Heath A, Hulleman E, Ji S, Jones C, Kilburn L, Kline C, Koldobskiy MA, Lim D, Lowenstein PR, Lu QR, Lum J, Mack S, Magge S, Marini B, Martin D, Marupudi N, Messinger D, Mody R, Morgan M, Mota M, Muraszko K, Mueller S, Natarajan SK, Nazarian J, Niculcea M, Nuechterlein N, Okada H, Opipari V, Pai MP, Pal S, Peterson E, Phoenix T, Prensner JR, Pun M, Raju GP, Reitman ZJ, Resnick A, Rogawski D, Saratsis A, Sbergio SG, Souweidane M, Stafford JM, Tzaridis T, Venkataraman S, Vittorio O, Wadden J, Wahl D, Wechsler-Reya RJ, Yadav VN, Zhang X, Zhang Q, Venneti S. Cancer Cell, 2024 Jan 8; 42 (1): 1 - 5. DOI:10.1016/j.ccell.2023.11.002
      PMID: 38039965
    • 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. Human Genetics, 2023 Oct 1; 142 (10): 1499 - 1517. DOI:10.1007/s00439-023-02581-x
      PMID: 37668839

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