Hande Kaymakcalan

Dr. Hande Kaymakcalan is an Assistant Professor in the Department of Neurosurgery at Yale School of Medicine. She holds an MD from Marmara University School of Medicine (1999) and completed her residency at Cook County Hospital (2003) and Yale University (2009).

Her research focuses on the intersection of human genetics and neurodevelopmental disorders, particularly PTEN Hamartoma Tumor Syndrome (PHTS) in pediatric patients, the creation of Turkish PHTS patient registry, genetics of overgrowth disorders with intellectual disability, congenital heart disease, and autism spectrum disorders. Her work bridges clinical neurology with genetic research, emphasizing population-specific studies in Turkish cohorts.

Analysis of Dr. Kaymakcalan's publication record reveals a strong emphasis on genetic mechanisms underlying neurodevelopmental disorders, with particular focus on mTOR signaling pathways, cortical neuronal migration defects, and genotype-phenotype correlations in rare genetic syndromes. Her research demonstrates consistent collaboration with leading geneticists and neuroscientists, with publications appearing in high-impact journals including Nature and Nature Genetics.

Dr. Kaymakcalan maintains active collaborations with researchers including Kaya Bilguvar, Katsuhito Yasuno, Murat Günel, Adife Gulhan Ercan-Sencicek, and Zeynep Erson Omay, with whom she has co-authored numerous publications. Her work has contributed significantly to understanding the genetic basis of neurodevelopmental conditions, particularly in Turkish populations.

Her laboratory work centers on genetic analysis of neurodevelopmental disorders, with emphasis on creating population-specific registries and identifying novel genetic variants associated with complex phenotypes. Current research directions appear to be expanding into the molecular mechanisms of neuronal migration disorders and their relationship to mTOR signaling pathways.