Jacqueline Goos

Jacqueline Goos is a Researcher at Erasmus MC, affiliated with the Department of Internal Medicine within the Faculty of Medicine. Her work is centered on the genetic underpinnings of rare developmental disorders, particularly craniofacial syndromes and ciliopathies.

Her research focuses on identifying and characterizing genetic variants associated with conditions such as KBG syndrome, Apert syndrome, and craniosynostosis. She employs molecular genetics, clinical phenotyping, and bioinformatics to understand the functional impact of mutations in genes like ANKRD11 and FUZZY. Her studies often involve collaborative, multi-institutional efforts and utilize patient-derived samples and mouse models.

The recent publications highlight a strong trend in medical genetics and diagnostic innovation. Her work spans systematic reviews on clinical procedures, functional characterization of genetic variants, and the development of cost-effective genotyping techniques for immunodeficiency screening. This indicates a research program bridging clinical practice and fundamental genetic research.

Jacqueline Goos has not been publicly recognized with any scientific awards mentioned in the provided text.

She collaborates extensively with other researchers in the field of medical genetics and rare diseases. While specific advising roles are not detailed, her involvement in doctoral theses and multi-author publications suggests a role in mentoring junior researchers and contributing to team-based science. There is no mention of independent grant leadership in the text, though participation in funded collaborative research is implied.

Her research is conducted within a network of geneticists, clinicians, and bioinformaticians at Erasmus MC, particularly those involved in craniofacial disorders and genetic diagnostics. The frequent co-authorship with individuals like Dr. Mathijssen and Dr. van der Spek points to an active research team focused on the genetics of developmental syndromes.