Ji-Sun Kim

Ji-Sun earned her Bachelor's and Master's degrees from the University of Toronto in Canada, followed by a Master’s of Genetic Counseling from Sarah Lawrence College. Before joining the Weill Cornell Neurogenetics team, she worked as a pediatric genetic counselor at Rutgers University Hospital in New Jersey.

She has supervised numerous genetic counseling students and completed a certificate in genomic counseling and variant interpretation. Ji-Sun is actively involved in research on rare genetic variants through sequencing at the Center for Neurogenetics at Weill Cornell Medicine. She also participates in the Volare Study, a natural history study of rare neurodevelopmental disorders led by pediatric neurologist Dr. Zachary Grinspan. This study aims to gather essential data on rare neurological diseases to support the development of future clinical trials and therapies, laying the necessary groundwork for future clinical trials of therapies.

Selected Publications: 

• Kim, J.-S., Stone, A., Cross, J., Grinspan, Z., L-Serine for GRIA3 and GRIN2B-related neurodevelopmental disorders, Brain, 2026;, awag081
• Kim, J. S., Ilaria, S., Hundal, J., & Bhise, V. (2025). Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology. Journal of child neurology, 40(5), 374–378.
• Mallack, E. J., Wang, C., Kim, J. S., & Ross, M. E. (2024). A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy. American journal of medical genetics. Part A, 194(11), e63790.
• Li, G., Strong, A., Wang, H., Kim, J. S., Watson, D., Zhao, S., Vaccaro, C., Hartung, E., Hakonarson, H., Zhang, T. J., Giampietro, P. F., & Wu, N. (2022). TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. American journal of medical genetics. Part A, 188(12), 3469–3481.