Faculty profile

Grace Yoon

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ProfessorDepartment of PaediatricsUniversity of Toronto

Grace Yoon

Professor

Department of Paediatrics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
36 publications in the last five years, latest in 2026.
Senior (last) author on 6 recent papers, a sign of leading a research group.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

121

Publications

2,658

Citations

131

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Roles and appointments

Director - Neurogenetics Clinic

Profiles and links

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Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders · 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Genome Medicine · 2026
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.
BMJ neurology open · 2026

All 121 publications

Latest funding

Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.
CIHR · 2011 · Co-investigator
$2,498,718

All 1 grants and awards

121 publications.

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N

Movement Disorders2026Open Access

DOI: 10.1002/mds.70144

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha S Zaki, Denisa Bronišová, Meijiang Liao, Mina Zamani, Annarita Scardamaglia, Nine Collomb, Lidia López, María J. Barrero, Julian Schröter, Steffen Syrbe, Marion Heidi Vallanger, Sofia Douzgou Houge, Yasemin Alanay, Ozlem Akgun-Dogan, Julie Vogt, Michael Muriello, Yvonne M C Hendriks, Alexandra Afenjar, Nadirah Damseh, Rauan Kaiyrzhanov, Marcello Niceta, Marco Tartaglia, Manju A Kurian, Nataliya Di Donato, Grace Yoon, et al. (33 authors)

Genome Medicine2026Open Access

DOI: 10.1186/s13073-026-01667-1 PMID: 42116163

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.

Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR

BMJ neurology open2026Open Access

DOI: 10.1136/bmjno-2026-001561 PMID: 41919005

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Shi Y, Silva A, Debuy C, Ghosh S, McConkey H, Schot R, Deng R, Nikoncuk A, van Slegtenhorst M, Hoefsloot LH, van Ham TJ, Simpson BN, Miller D, Pillai NR, Holder-Espinasse M, Almoguera B, Blanco-Kelly F, Clowes V, Yoon G, Monteleone B, Vasquez J, Pérez de la Fuente R, Bellido-Cuéllar S, Barrios-Machain U, Moreno-Sáez Y, Steindl K, Begemann A, Rauch A, Busa T, Gorokhova S, Lakhani S, Grinspan Z, Garde A, Mau Them FT, Bruel AL, Delanne J, Safraou H, Colin E, Parikh AS, Slavotinek A, Devine P, Shillington A, Sorlin A, Menzies D, Mehta L, Close C, Heid C, Ahmed SA, Gomes A, Bird LM, Aref-Eshghi E, Cardona-Londoño KJ, Arold ST, Li JM, Hsieh TC, Kleefstra T, Lanko K, Sadikovic B, Barakat TS

Genetics in medicine : official journal of the American College of Medical Genetics2026Open Access

DOI: 10.1016/j.gim.2026.102637 PMID: 42322191

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Helal S, Pipko N, Liang Y, Levine A, Carnevale A, Szuto A, Marshall CR, Costain G, Deshwar AR, Yoon G

Neurogenetics2026Senior author

DOI: 10.1007/s10048-026-00925-z PMID: 42599553

Defective Midline Crossing, Butterfly-Shaped Medulla, and Split Pons Confirm ROBO3-Related Horizontal Gaze Palsy With Progressive Scoliosis.

Salvo D, Povse E, Yoon G

Neurology2026Senior author

DOI: 10.1212/wnl.0000000000218520 PMID: 42691427

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Aleisa ZA, Yoon G, Friant S, Rinaldi B, Roessel N, Dollfus H, Evesson F, Cooper ST, Gonorazky H

Neuromuscular disorders : NMD2026

DOI: 10.1016/j.nmd.2026.106417 PMID: 41966785

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Labella B, Brochier G, Beuvin M, Lacene E, Chanut A, Madelaine A, Labasse C, Méneret A, Roos A, Kölbel H, Levine A, Yoon G, Svahn J, Bouhour F, Streichenberger N, Nadaj-Pakleza A, Malfatti E, Bassez G, Behin A, Laforet P, Villar-Quiles RN, Leonard-Louis S, Maisonobe T, Stojkovic T, Eymard B, Romero NB, Padovani A, Filosto M, Cassandrini D, Biancalana V, Rendu J, Polavarapu K, Métay C, Evangelista T

Journal of neuromuscular diseases2026

DOI: 10.1177/22143602251393910 PMID: 41252304

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou S, Leo CP, Deng C, Lin S-J, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A

American Journal of Human Genetics202511 citationsOpen Access

DOI: 10.1016/j.ajhg.2025.03.015

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O

Journal of neuromuscular diseases20253 citationsOpen Access

DOI: 10.1177/22143602251339369 PMID: 40491337

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Grace Yoon

Research

Latest papers

Latest funding

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Defective Midline Crossing, Butterfly-Shaped Medulla, and Split Pons Confirm ROBO3-Related Horizontal Gaze Palsy With Progressive Scoliosis.

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.

Frequent collaborators

Guy Rouleau

Christian Marshall

Ziv Gan-Or

Gregory Costain

Oksana Suchowersky

Kym Boycott

Greg Costain

Mark Tarnopolsky

Roberto Mendoza-Londono

Hernan Gonorazky

Stephen Scherer

Cynthia Hawkins

Lili-Naz Hazrati

Geneviève Bernard

David Chitayat

Andreas Schulze

Taila Hartley

Brenda Banwell

Bernard Brais

Ronald Cohn

Peter Kannu

James Dowling

Steven Miller

Neal Sondheimer

Rebekah Jobling

Damien Noone

Michal Inbar-Feigenberg

A Guerguerian

Benoit Coulombe

Anne Kawamura

Jeff Kobayashi

Elena Pope

Laura McAdam

Mahendranath Moharir