I have been involved in clinical, translational and bench research in developmental neurologic and immunologic diseases throughout my career. I particularly seek detailed phenotypic analysis of syndromes, as I have built my expertise in a career providing clinical, research and training in medical genetics. I have the fortunate experience of conducting multidisciplinary evaluation and management clinics in cardiovascular, immunology, hematology, cancer genetic, disorders of sex development and osteogenesis imperfecta in the last ten years at the University of Michigan. This foundation for my multidisciplinary clinical involvement was made by my over 10 years as an attending physician in immunology, genetics and cardiovascular genetics at Seattle Children's Hospital. The diagnostic evaluation of these patients increasingly relies on the identification of monogenic, Mendelian disorders, as well as the identification of complex, multigenic susceptibility profiling. Interpretation of genomic sequencing, and appropriate genetic counseling, is critical to successful patient-centered and family-oriented care integration. There is a strong unmet need to identify specific diagnoses in patients that present with atypical features in the clinical setting, and providing my expertise in medical genetics increases our diagnostic capability. I am enthusiastic about bringing my clinical expertise, research background, and training interest to the the clinic everyday.

Contributions to Science:
A. I led a research project on hereditary neuralgic amyotrophy from the time of the group discovery of the pathogenic variants in SEPT9. PMID: 16186812, 18492087, 19139049, 19451530, 20502708, 19939853, 20301569.
B. I have a clinical interest in the multiple congenital anomaly condition known as Kabuki (Niikawa-Kuroki) syndrome. PMID: 10190924, 20711175, 21671394, 21882399