Selected Publications
Clay, S., Leon, A., Wall, L. A., & Zambrano, R. M. (2025). DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case. American Journal of Medical Genetics. Part A, 197(9), e64083. https://doi.org/10.1002/ajmg.a.64083
Clay, S., Evans, A., Zambrano, R., Otohinoyi, D., Hicks, C., & Tsien, F. (2024). Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss. Frontiers in Pediatrics, 12, 1299341. https://doi.org/10.3389/fped.2024.1299341
Joslyn, P., Meddaugh, H., Torres, J., Patrick-Esteve, J., Olister, S., Mumphrey, C., & Zambrano, R. (2020). A novel missense variant in CHD7, a rare cause of CHARGE syndrome. Clinical Dysmorphology, 29(3), 158–160. https://doi.org/10.1097/MCD.0000000000000315