Grace Yoon

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Bio

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.

Research Interests

Papers共 199 篇Author StatisticsCo-AuthorSimilar Experts

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Child Neurology: Severe GMPPB -Related Congenital Muscular Dystrophy with Rapidly Progressive Encephalopathy Leading to Infantile Death

Joseph Dube,Susan Blaser, Anne-Marie Guerguerian,Lili-Naz Hazrati,Grace Yoon

NEUROLOGYno. 3 (2025)

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Homozygous Missense Variant in C2orf69 Causes Early-Onset Neurodegeneration, Leukoencephalopathy and Autoinflammation

Rachel Youjin Oh, Michael Maier,Susan Blaser,Jessie Cameron,Cynthia Hawkins,Bruno Reversade,Grace Yoon

JOURNAL OF MEDICAL GENETICS (2025)

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Homozygous Missense Variant Inc2orf69causes Early-Onset Neurodegeneration, Leukoencephalopathy and Autoinflammation

Rachel Youjin Oh, Michael Maier,Susan Blaser,Jessie Cameron,Cynthia Hawkins,Bruno Reversade,Grace Yoon

Journal of Medical Geneticspp.jmg-2024, (2025)

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Characterization of Severe COL6-related Dystrophy Due to the Recurrent Variant COL6A1 C.930+189c>t

A Reghan Foley, Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach, Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini, Giacomo Comi, Monique Ryan,Denise McDonald, Pinki Munot,Grace Yoon, Edward Leung,Erika Finanger, Meganne E Leach, James Collins,Cuixia Tian,Payam Mohassel, Sarah B Neuhaus,Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak, Sidney M Gospe,Vikram Bhise, Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata, Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa, Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou, Sara Aguti, Yoram Nevo,Ichizo Nishino, Cecilia Jimenez-Mallebrera,Shireen R Lamandé, Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni, Carsten G Bönnemann

Brain a journal of neurology (2025)

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Clinical Validity of Congenital Myopathy Genes Determined by the ClinGen Congenital Myopathies Expert Panel

Justyne E Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang, Brooke Palus, Marwa Abdelmoneim Elnagheeb, Lucy Eng, Emma Owens, Alan H Beggs, Enrico Bertini,Adele D'Amico,Sandra Donkervoort, James Dowling,Fabiana Fattori,Ana Ferreiro, Casie A Genetti,Hernan Gonorazky,Monkol Lek,Amanda Lindy,Livija Medne,Francesco Muntoni, Sander Pajusalu,Katarina Pelin,John Rendu,Anna Sarkozy,Matteo Vatta,Tom Winder,Grace Yoon, Carsten G Bönnemann, Ozge Ceyhan-Birsoy

Journal of neuromuscular diseasespp.22143602251339369-22143602251339369, (2025)

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Bi-allelic Pathogenic Variants in TRMT1 Disrupt Trna Modification and Induce a Neurodevelopmental Disorder

Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng,Sheng-Jia Lin,Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang,Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang,Cassidy Petree, Anna V Derrick, Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow,Grace Yoon, Michelle M Morrow, Deanna Alexis Carere, Mary O'Connor, Julie Fleischer, Erica H Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe,Semra Hiz Kurul,Didem Soydemir,Bulent Kara,Deniz Sunnetci-Akkoyunlu, Viktoria Bothe,Konrad Platzer,Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm, Sevcan Tuğ Bozdoğan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca, Sara Cabet,Zeynep Tümer, Tina D Hjortshøj,Gitte Rønde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani, Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung,Mohnish Suri,Paul J Benke,Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil I Yilmaz,Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour,Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau,Sophie Julia,Jawaher Zeighami, Saeed Ashoori,Gholamreza Shariati,Alireza Sedaghat, Alihossein Sabri,Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin,Uzma Abdullah,Shahid Mahmood Baig, Wendy K Chung, Olga O Glazunova,Sigaudy Sabine,Huma Arshad Cheema,Giovanni Zifarelli,Peter Bauer, Jai Sidpra,Kshitij Mankad,Barbara Vona, Andrew E Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu

American journal of human genetics（2025）

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Genome Sequencing Reveals Novel IKBKG Structural Variants Associated with Incontinentia Pigmenti

Neta Pipko, Rachel Youjin Oh, Aiyana Kaplan,Andrea Shugar,Anna Szuto,Miriam Weinstein,Grace Yoon,Roberto Mendoza-Londono,Elena Pope,Ted Young,Christian R. Marshall,Gregory Costain,Irene Lara-Corrales, Yiming Wang

BRITISH JOURNAL OF DERMATOLOGY (2025)

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Nociceptor Neurons Suppress Alveolar Macrophage-Induced Siglec-F+ Neutrophil-Mediated Inflammation to Protect Against Pulmonary Fibrosis

Carlos H Hiroki, Mortaza F Hassanabad, Manon Defaye,Nicole Sarden, Alexandria Bartlett,Raquel Farias, Angela P Nguyen, Idaira M Guerrero-Fonseca,Grace Yoon, Luke Brown,Caixia Ma, Hyungjun Yang, Darrel Belke, Ali Fatehi Hassanabad, Christopher McCoy,Nicole L Rosin, Dennis J Orton, Paul W M Fedak,Bruce A Vallance,Hongbing Yu,Kevan Jacobson, Nargis Khan,Christophe Altier,Margaret M Kelly,Bryan G Yipp

Immunity (2025)

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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P272: Novel Biallelic Missense Variants in C2orf69 Cause Combined Oxidative Phosphorylation Deficiency Type 53 (COXPD53), Associated with Early-Onset Neurodegeneration and Autoinflammation

Youjin Oh,Grace Yoon,Michael Maier,Bruno Reversade,Jessie Cameron,Susan Blaser,Cynthia Hawkins

Genetics in Medicine Open (2024): 101168

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Papers共 199 篇Author StatisticsCo-AuthorSimilar Experts