Rao, L., Li, W., Shen, Y., Chung, W. K., & Gennerich, A. (2025). Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. Biomolecules, 15(5), 656. https://doi.org/10.3390/biom15050656

Tomioka, K., Miyamoto, T., Akutsu, S. N., Yanagihara, H., Fujita, K., Royba, E., Tauchi, H., Yamamoto, T., Koh, I., Hirata, E., Kudo, Y., Kobayashi, M., Okada, S., & Matsuura, S. (2021). NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-98673-7

Manyisa, N., Schrauwen, I., de Souza Rios, L. A., Mowla, S., Tekendo-Ngongang, C., Popel, K., Esoh, K., Bharadwaj, T., Nouel-Saied, L. M., Acharya, A., Nasir, A., Wonkam-Tingang, E., Kock, C. de, Dandara, C., Leal, S. M., & Wonkam, A. (2021). A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Genes, 12(11), 1765. https://doi.org/10.3390/genes12111765