Outputs

• Papers
  • Human genetics & medical genetics
  • Deep mutational scanning
  • Evolutionary research
  • Translational research
  • Citizen science initiatives
• Covers

Papers

Human genetics & medical genetics

Fu, L.#, Chen, J., Lian, D., Du, S., Wu, D., Yang, C., … Zhang, G.#, Ma, K.#, & Mao, Y#. (2026). A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA. Nature Communications, 17(1), 4371.
https://doi.org/10.1038/s41467-026-71348-5

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

Deep mutational scanning

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.*#, 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), dmm050573. https://doi.org/10.1242/dmm.050573

Evolutionary research

Ma, K.*, Yang, X.*, & Mao, Y. (2025). 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

Translational research

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

Lek, A., Ma, K., Woodman, K. G., & Lek, M. (2021). Nuclease-deficient clustered regularly interspaced short palindromic repeat-based approaches for in vitro and in vivo gene activation. Human Gene Therapy, 32(5-6), 260-274.
https://doi.org/10.1089/hum.2020.241

Citizen science initiatives

Bourassa, M. H., Sillon, G., Ding, S., Chioccioli, M., Lek, M., Ma, K., … & Shapiro, A. J. (2025). ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec. Cells, 14(18), 1460.
https://doi.org/10.3390/cells14181460

Covers