Outputs

• Papers
• Covers

Papers

Gauthier, L. O., Wang, Z., Ng, K. K., Huang, S., Mao, Y., Lek, M.#, & Ma, K.# (2025). Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes. STAR Protocols, 6(3), 103909. https://doi.org/10.1016/j.xpro.2025.103909

Ma, K.*, Yang, X.*, & Mao, Y. (2024). Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies. Trends in Genetics, 41(3), 201-217. https://doi.org/10.1016/j.tig.2024.11.001

Ma, K.*#, Huang, S., Ng, K. K., Lake, N. J., Joseph, S., Xu, J., … & Lek, M.# (2024). Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell, 187(23), 6707-6724. https://doi.org/10.1016/j.cell.2024.08.047

Ma, K.*, Gauthier, L. O., Cheung, F., Huang, S., & Lek, M. (2024). High-throughput assays to assess variant effects on disease. Disease Models & Mechanisms, 17(6). https://doi.org/10.1242/dmm.050573

Lake, N. J., Ma, K., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., … & Lek, M. (2024). Quantifying constraint in the human mitochondrial genome. Nature, 635(8038), 390-397. https://doi.org/10.1038/s41586-024-08048-x

Lek, A., Wong, B., Keeler, A., Blackwood, M., Ma, K., Huang, S., … & Flotte, T. (2023). Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy. New England Journal of Medicine, 389(13), 1203-1210. https://doi.org/10.1056/nejmoa2307798

Covers