Grace Yoon

the hospital for sick children, university of toronto

H指数:17

被引数:1,483

个人简介

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教育背景

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工作经历

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荣誉奖项

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

揭示MYH2相关肌病：来自病例系列和系统综述的组织学-遗传学见解

Journal of Neuromuscular Diseases

IF3.4

2025-11-180

Beatrice Labella; Guy Brochier; Maud Beuvin; Emmanuelle Lacene; Anais Chanut; Angeline Madelaine; Clemence Labasse; Aurelie Méneret; Andreas Roos; Heike Kölbel; Adrian Levine; Grace Yoon; Juliette Svahn; Francoise Bouhour; Natalie Streichenberger; Aleksandra Nadaj-Pakleza; Edoardo Malfatti; Guillaume Bassez; Anthony Behin; Pascal Laforet; Rocio Nur Villar-Quiles; Sarah Leonard-Louis; Thierry Maisonobe; Tanya Stojkovic; Bruno Eymard; Norma Beatriz Romero; Alessandro Padovani; Massimiliano Filosto; Denise Cassandrini; Valerie Biancalana; John Rendu; Kiran Polavarapu; Corinne Métay; Teresinha Evangelista

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

CPT1C基因中的失活功能变异：不支持其在遗传性痉挛性截瘫中的因果作用

MOVEMENT DISORDERS

IF7.6

2025-11-010

OAAI

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

先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定

Journal of Neuromuscular Diseases

IF3.4

2025-06-100

PRE

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation

JOURNAL OF MEDICAL GENETICS

IF3.7

2025-01-230

PRE

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

NATURE COMMUNICATIONS

IF15.7

2024-05-201

OAAI

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

GENETICS IN MEDICINE

IF6.2

2024-02-010

PRE

Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

GENETICS IN MEDICINE

IF6.2

2022-10-016

OAAI

Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-04-073

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2021-12-186

Exfoliated epithelial cell transcriptome reflects both small and large intestinal cell signatures in piglets

AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

IF3.3

2021-07-015

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异引起常染色体显性神经发育综合征

NATURE GENETICS

IF31.8

2021-07-0149

OAAI

Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G.; Lorenzo, Damaris N.

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

EMBO MOLECULAR MEDICINE

IF8.3

2021-04-1426

OAAI

van der Welle, Reini E. N.; Jobling, Rebekah; Burns, Christian; Sanza, Paolo; van der Beek, Jan A.; Fasano, Alfonso; Chen, Lan; Zwartkruis, Fried J.; Zwakenberg, Susan; Griffin, Edward F.; ten Brink, Corlinda; Veenendaal, Tineke; Liv, Nalan; van Ravenswaaij-Arts, Conny M. A.; Lemmink, Henny H.; Pfundt, Rolph; Blaser, Susan; Sepulveda, Carolina; Lozano, Andres M.; Yoon, Grace; Santiago-Sim, Teresa; Asensio, Cedric S.; Caldwell, Guy A.; Caldwell, Kim A.; Chitayat, David; Klumperman, Judith

Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts during Wound Healing (vol 27, pg 396, 2020)

CELL STEM CELL

IF20.4

2021-03-0124

OAAI

Loss of Aryl Hydrocarbon Receptor Promotes Colon Tumorigenesis in ApcS580/+; KrasG12D/+ Mice

芳香烃受体缺失促进ApcS580/; KrasG12D/小鼠结肠肿瘤发生

MOLECULAR CANCER RESEARCH

IF4.7

2021-01-2531

Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts during Wound Healing

CELL STEM CELL

IF20.4

2020-09-01120

OAAI

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

ACTA NEUROPATHOLOGICA

IF9.3

2019-08-2929

OAAI

Donkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I; Topf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S. H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V; Foley, A. Reghan; Innes, A. M.; Bonnemann, C. G.; Shutt, T. E.

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies

JOURNAL OF MEDICAL GENETICS

IF3.7

2019-08-077

OAAI

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome

BRAIN

IF11.7

2019-03-2640

OAAI

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

EUROPEAN JOURNAL OF HUMAN GENETICS