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Grace Yoon

Title: Staff Geneticist, Division of Clinical & Metabolic Genetics
Designations: MD, FRCP(C), FCCMG, FACMG
Fax: 416-813-5345
Alternate Contact Name: Rozmin Visram
Alternate Phone: 416-813-6389
Alternate Email:
U of T Positions: Professor, Departments of Paediatrics and Molecular Genetics
Other Positions: Director, Neurogenetics Clinic

Research Positions

Project Investigator
SickKids Research Institute


Grace Yoon completed residency training in Medical Genetics followed by a fellowship in Neurogenetics, and is currently a staff physician in the Division of Clinical and Metabolic Genetics, with a cross appointment in the Division of Neurology. In addition to providing clinical care for patients with inherited neurological disorders, she is an active teacher within the Faculty of Medicine at the University of Toronto.


  1. Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. De novo variants in POLR3B cause ataxia, spasticity and demyelinating neuropathy. American Journal of Human Genetics 2021;108(1):186-193
  2. Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nature Communications 2019;10(1):797.
  3. Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G. Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. Brain 2019;142(5):1195-1202.
  4. Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD; Care4Rare Canada Consortium., Yoon G, Caldecott KW. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017; 541(7635):87-91.
  5. Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurology Genetics. 2016; 5:3(1):e122

See a full list of Grace Yoon's publications

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