Andrade Azevedo de Vasconcelos, A., Kyun Oh, J., Guan, B., Torres, V. L. L., Lynch Gaete, M. I., & Lima de Carvalho, J. R. (2025). A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Ophthalmic Genetics, 1–5. https://doi.org/10.1080/13816810.2024.2447499

Towheed, A., Hietanen, C. L., Kamath, V. G., Singh, L. N., Ho, A., Engelstad, K., Cornett, K., Montes, J., & De Vivo, D. (2021). Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression. Annals of Clinical and Translational Neurology, 8(11), 2199–2204. Portico. https://doi.org/10.1002/acn3.51464

Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh-Karoleski, C., Krishnan, U. S., Khlevner, J., De, A., Zygmunt, A., Crombleholme, T., Lim, F.-Y., Needelman, H., Cusick, R. A., Mychaliska, G. B., Warner, B. W., Wagner, A. J., Danko, M. E., … Chung, W. K. (2021). Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. The American Journal of Human Genetics, 108(10), 1964–1980. https://doi.org/10.1016/j.ajhg.2021.08.011