Author

Teija M.I. Bily

Hospital for Sick ChildrenORCID 0009-0002-2557-7749Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:CRISPR screen· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Evgueni A. IvakineiD· 2 shared Liangchi Zhou· 2 shared Reid A. Brewer· 2 shared Ronald D. CohniD· 2 shared Steven Erwood· 2 shared A. Micheil InnesiD· 1 shared Alexandre M. White‐BrowniD· 1 shared Angélica MorescoiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Evgueni A. IvakineORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 14, 2026

Validation of the VACTERL Episignature and Evidence for Epigenomic Convergence Across Recurrent Constellations of Embryonic Malformations

Julianne K. Postma, Sadegheh Haghshenas, Teija M.I. Bily…·Tuğçe B. Balcı

The paper validates a DNA methylation episignature for VACTERL and finds evidence of epigenomic convergence across related embryonic malformation conditions.

DOI 10.64898/2026.07.10.26357391

humanDNA methylation

𝕏 PostBluesky

GeneticsNature BiotechnologyPeer-reviewedFeb 21, 2022

Saturation variant interpretation using CRISPR prime editing

Steven Erwood, Teija M.I. Bily, Jason Lequyer…·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.

170 citationstop 1%

humanCRISPR screen

𝕏 PostBluesky

GeneticsGenome ResearchPeer-reviewedDec 1, 2019

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…·Evgueni A. Ivakine

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

19 citations

humanwhole-exome sequencing

𝕏 PostBluesky