Author

Rachel Youjin Oh

University of TorontoORCID 0000-0002-7516-7927Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bushra HaqueiD· 2 shared Christian R. MarshalliD· 2 shared David CheerieiD· 2 shared Gregory CostainiD· 2 shared James J. DowlingiD· 2 shared Adam ShlieniD· 1 shared Ali AlMailiD· 1 shared Amy Y. PaniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bushra HaqueORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

David Cheerie, Marlen C. Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque, Brian Thomas Kalish, Margaret M. Meserve, Rachel Youjin Oh, Amy Y. Pan, Miriam S. Reuter, Michael J. Szego, Anna Szuto, Ana Lisa Taylor Tavares, Annemieke M Aartsma-Rus, , Evgueni A. Ivakine

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

Genetics in Medicine · Oct 11, 2025Peer-reviewedGenetic & Genomic Medicine

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

Rachel Youjin Oh, Ali AlMail, David Cheerie, George F. Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza‐Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

medRxiv · Jun 29, 2023 · PreprintGenetic & Genomic Medicine