Author

Grace Yoon

University of TorontoORCID 0000-0002-3450-3293Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abolfazl RadiD· 1 shared Alain DagheriD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared Andrew E. FryiD· 1 shared Ann‐Charlotte ThuressoniD· 1 shared Anna V. Derrick· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

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2 papers

Recent·Most cited

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine

Evidence for non-Mendelian inheritance in spastic paraplegia 7

Mehrdad A. Estiar, Eric Yu, Ikhlass Haj Salem, Jay P. Ross, Kheireddin Mufti, Fulya Akçimen, Etienne Léveillé, Dan Spiegelman, Jennifer A. Ruskey, Farnaz Asayesh, Alain Dagher, Grace Yoon, Mark Andrew Tarnopolsky, Kym M. Boycott, Nicolas Dupré, , Ziv Gan‐Or

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

Movement Disorders · Feb 17, 2021Peer-reviewedGenetic & Genomic Medicine