Irfan Saadi

This study shows that loss of SPECC1L in cranial neural crest cells causes increased Hedgehog signaling and craniofacial defects similar to human syndrome.

The paper shows that SPECC1L regulates F-actin levels, which in turn affects cilia length and palate development, with a genetic interaction with Thm1.

The paper investigates TWIST1's role in neural tube morphogenesis by examining its effects on cilia length, endocytic vesicle dynamics, and cell-cell junctions in mutant embryos.

This study reveals the dynamic timing and sex-specific differences in palatal shelf elevation in mouse embryos using high-resolution imaging.

This study identifies a new role for Twist1 in neural tube development and epithelial-to-mesenchymal transition in cranial neural crest cells, showing its interaction with Irf6 and impact on cytoskeletal remodeling and facial morphology.

This study shows that in-frame deletions in the SPECC1L CCD2 domain cause embryonic tissue movement and fusion defects, leading to cleft palate and exencephaly, and identifies CCD2 as a gain-of-function mutation.

The paper develops a framework to analyze subtype-specific and shared genetic effects in orofacial clefting and applies it to identify loci associated with different subtypes.