Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …

VarFish is a user-friendly web application for the quality control, filtering, prioritization,
analysis, and user-based annotation of DNA variant data with a focus on rare disease …

Synthetic sugar analogs are widely applied in metabolic oligosaccharide engineering (MOE)
and as novel drugs to interfere with glycoconjugate biosynthesis. However, mechanistic …

Glycosaminoglycans (GAG s) are a heterogeneous family of linear polysaccharides that
constitute the carbohydrate moiety covalently attached to the protein core of proteoglycans …

Purpose Congenital clubfoot is a serious birth defect that affects nearly 0.1% of all births.
Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful …

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as
“Robin sequence”(RS) is caused by oropharyngeal developmental events constrained by a …

Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes
micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The …

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition
affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood …

Polymyxins are important last resort antibiotics for the treatment of infections caused by
multidrug-resistant Gram-negative pathogens. However, pathogens have acquired …