The focus of Dr. Quintana's research is to identify and characterize the genetic etiology of multiple congenital anomaly syndromes (MCAs). Dr. Quintana's laboratory specifically focuses on diagnosing MCAs characterized by craniofacial abnormalities and intellectual disabilities, two of the most common phenotypes associated with congenital malformations. To diagnose these disorders, Dr. Quintana works with collaborators, clinicians, and geneticists from around the country to recruit individuals with MCAs of unknown genetic etiology. She then uses whole exome sequencing, a technique that is used frequently to capture the DNA sequence of an individual's entire coding sequence, to identify novel mutations that cause disease. Because Dr. Quintana studies rare disorders, her laboratory routinely has to characterize gene function in an in vivo animal model. Her animal model of choice is the developing zebrafish embryo, a vertebrate animal whose development is highly similar to humans. By studying zebrafish development, Dr. Quintana is able to identify the underlying mechanisms associated with specific diseases and unique disease phenotypes. The overarching goal of her research is that this understanding will improve future treatment options and identify novel preventative measures for MCA disorders.