Wattanasirichaigoon, Duangrurdee

Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias

Schwartz, P. J., Priori, S. G., Spazzolini, C., Moss, A. J., Vincent, G. M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M. T., et al. (2001) · Circulation

Cardiac electrophysiology and arrhythmiasIon channel regulation and function

Cited by 1,779

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M., & Wattanasirichaigoon, D. (2023) · International Journal of Environmental Research and Public Health

Genomics and Rare DiseasesPharmaceutical Economics and Policy

Cited by 168

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

Cited by 115