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.

This study investigates the effects of a DVL1 variant in a Drosophila model of Robinow Syndrome, showing disrupted morphogenesis and appendage formation with increased cell death and basement membrane changes.

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.

The paper tests two FZD2 variants linked to Robinow syndrome in chicken embryos, showing increased facial width and altered WNT signaling.

This study investigates tooth replacement patterns in geckos after tooth removal, finding evidence of local signaling and proposing a new Phase Inhibition Model.