Professor
Pediatrics
D3109 Medical Professional Building
Ann Arbor, MI 48109-5647
[email protected]
D3109 Medical Professional Building
Ann Arbor, MI 48109-5647
Available to mentor
Donna M Martin
Professor
Dr. Martin is a Professor of Pediatrics and Human Genetics. She is a board-certified clinical geneticist and chair of the Department of Pediatrics.
https://martin.lab.medicine.umich.edu/
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Center MemberTaubman Institute
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Center MemberPrecision Health Initiative
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Center MemberCenter for Cell Plasticity and Organ Design
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.
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Park IY, Hsu C-W, Bouazoune K, Espindola CE, Armond MHM, Coarfa C, Grimm SL, Martin JF, Martin DM, Walker CL. Sci Rep, 2025 Jun 3; 15 (1): 19429Journal ArticleA novel cardiomyopathy phenotype linked to a CHD7 missense variant.
DOI:10.1038/s41598-025-00606-1 PMID: PMC12134341 -
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. Am J Med Genet A, 2025 Mar; 197 (3): e63927Journal ArticleExpanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
DOI:10.1002/ajmg.a.63927 PMID: 39503049 -
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): e2311720121Journal ArticleCHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
DOI:10.1073/pnas.2311720121 PMID: PMC10927591 -
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.Journal ArticleA road map for the treatment of pediatric diffuse midline glioma.
DOI:10.1016/j.ccell.2023.11.002 PMID: PMC11067690 -
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.Journal ArticleCHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
DOI:10.1007/s00439-023-02581-x PMID: PMC10511616 -
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): 100198Journal ArticleDe novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
DOI:10.1016/j.xhgg.2023.100198 PMID: PMC10172836 -
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): 100801Journal ArticlePractical considerations for reinterpretation of individual genetic variants.
DOI:10.1016/j.gim.2023.100801 PMID: PMC10408279 -
Krueger LA, Bills JD, Lim ZY, Skidmore JM, Martin DM, Morris AC. Exp Eye Res, 2023 Jan; 226: 109299Journal ArticleChromatin remodeler Chd7 regulates photoreceptor development and outer segment length.
DOI:10.1016/j.exer.2022.109299 PMID: PMC10354686
Points of Blue
Brandon Lu (he/him/his) is from Basking Ridge, NJ and graduated from NYU in 2021. Before attending college and opting for an MD/PhD in med school, Brandon was involved with the Structural DNA Nanotechnology lab at NYU.
