Neelathi, U. M., Ullah, E., George, A., Maftei, M. I., Boobalan, E., Sanchez-Mendoza, D., Adams, C., McGaughey, D., Sergeev, Y. V., Rawi, R. A., Naik, A., Bender, C., Maumenee, I. H., Michaelides, M., Tan, T. G., Lin, S., Villasmil, R., Blain, D., Hufnagel, R. B., Arno, G., Young, R. M., Guan, B., Brooks, B. P. (2025). Variants in NR6A1 cause a novel oculo vertebral renal syndrome. Nature Communications. https://doi.org/10.1038/s41467-025-60574-y