Grace Yoon
Title:
Staff Physician, Division of Clinical & Metabolic Genetics
Designations:
MD, FRCP(C), FCCMG, FACMG
Phone:
416-813-6390
Email:
grace.yoon@sickkids.ca
Fax:
416-813-5345
Alternate Contact Name:
Nicole
Allain
Alternate Phone:
416-813-6386
Alternate Email:
nicole.allain@sickkids.ca
Alternate Fax:
416-813-5345
U of T Positions:
Professor of Paediatrics and Molecular Genetics
Hospital Positions
Academic Clinician
Director, Neurogenetics Clinic
Areas of Clinical Specialty
- Neuromuscular disorders and Ataxias
- Muscle disorders, peripheral nerve disorders, channelopathies, motor neuron disorders, neuromuscular junction disorders, hereditary spastic paraplegias
- Cerebellar, spinocerebellar, episodic, sensory ataxias
Research Positions
Project Investigator, SickKids Research Institute
Biography
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.
Publications
- Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL. Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility. Nature Communications 2024;15(1):4284. doi: 10.1038/s41467-024-48549-x.
- 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
- 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.
- 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.
- 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.