Author

Steven Erwood

University of Toronto

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant effect prediction· 2 Assay:CRISPR screen· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Evgueni A. IvakineiD· 4 shared Ronald D. CohniD· 4 shared Kyle Lindsay· 2 shared Liangchi Zhou· 2 shared Reid A. Brewer· 2 shared Teija M.I. BilyiD· 2 shared Aideen Teeling· 1 shared Anjali Vig· 1 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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4 shared papersGenetics

Evgueni A. IvakineORCID

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Author profile →

4 papers

Recent·Most cited

Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis

Antonio Mollica, Safia Omer, Georgiana Forguson, Sydney Steiman, Sonia L. Evagelou, Serhiy Naumenko, Susan Walker, L Y Li, Aideen Teeling, Kyle Lindsay, Steven Erwood, Shagana Visuvanathan, Anjali Vig, Robert McCoy Vernon, Benjamin Akman, , Evgueni A. Ivakine

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

Nature Communications · Nov 27, 2025Peer-reviewedGenetic & Genomic Medicine

Saturation variant interpretation using CRISPR prime editing

Steven Erwood, Teija M.I. Bily, Jason Lequyer, Joyce Yan, Nitya Gulati, Reid A. Brewer, Liangchi Zhou, Laurence Pelletier, Evgueni A. Ivakine, Ronald D. Cohn

The paper uses CRISPR prime editing to functionally interpret variants in NPC1 and BRCA2 genes by haploidizing cell lines and scoring 256 and 465 variants respectively.

Nature Biotechnology · Feb 21, 2022Peer-reviewedGenetics

Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Steven Erwood, Reid A. Brewer, Teija M.I. Bily, Eleonora Maino, Liangchi Zhou, Ronald D. Cohn, Evgueni A. Ivakine

This paper develops a haploid cell model for Niemann-Pick disease type C to characterize patient variants and enable clinical interpretation.

Genome Research · Dec 1, 2019Peer-reviewedGenetics

A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo.

Dwi U. Kemaladewi, Prabhpreet S. Bassi, Steven Erwood, Dhekra Al-Basha, Kinga I. Gawlik, Kyle Lindsay, Elzbieta Hyatt, Rebekah Kember, Kara M. Place, Ryan M. Marks, Madeleine Durbeej, Steven A. Prescott, Evgueni A. Ivakine, Ronald D. Cohn

This paper demonstrates that upregulating a disease modifier gene using CRISPR/dCas9 can rescue muscular dystrophy in mice, showing that muscle fibrosis may be reversible.

Nature · Jul 24, 2019Peer-reviewedGenetics