Area of research
Cell Biology · Hematology
Research interest
Research focused on Joubert syndrome and Exocytosis, with related work in Pulmonary fibrosis, Lytic cycle, Galectin-3. Notable publications include 'Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center', 'Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells', and 'Dysregulation of Galectin-3. Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis'.