Author
University of British ColumbiaORCID 0000-0002-8250-8267Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Shruti S. Tophkhane, Gamze Akarsu, Sarah J. Gignac…·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.
Shruti S. Tophkhane, Sarah J. Gignac, Katherine Fu…·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.
Shruti S. Tophkhane, Katherine Fu, Esther M. Verheyen, Joy Marion Richman
The paper tests two FZD2 variants linked to Robinow syndrome in chicken embryos, showing increased facial width and altered WNT signaling.