Author

Sarah J. Gignac

University of British Columbia

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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Developmental Biology· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:Drosophila· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Esther M. VerheyeniD· 2 shared Joy Marion RichmaniD· 2 shared Katherine Fu· 2 shared Shruti S. TophkhaneiD· 2 shared Gamze Akarsu· 1 shared Stephanie Xie· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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2 shared papersDevelopmental Biology

Esther M. VerheyenORCID

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2 papers

Recent·Most cited

The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes

Shruti S. Tophkhane, Gamze Akarsu, Sarah J. Gignac, Katherine Fu, Stephanie Xie, Esther M. Verheyen, Joy Marion Richman

This study shows that a truncated C-terminus in DVL1 causes Robinow Syndrome by disrupting WNT signaling and morphogenesis in animal models.

bioRxiv · Feb 17, 2026 · PreprintDevelopmental Biology

DVL1 variants and C-terminal deletions have differential effects on craniofacial development and WNT signaling

Shruti S. Tophkhane, Sarah J. Gignac, Katherine Fu, Esther M. Verheyen, Joy Marion Richman

The paper investigates the functional effects of DVL1 variants on craniofacial development and WNT signaling in chicken embryos, showing that C-terminal deletions cause developmental defects and impair both canonical and non-canonical WNT pathways.

bioRxiv · Feb 28, 2024 · PreprintDevelopmental Biology