Ritter, A. L., Gold, J., Hayashi, H., Ackermann, A. M., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., Piton, A., Ohl, J., Kukolich, M. K., Nagasaki, K., Kato, K., … Izumi, K. (2022). Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine, 24(6), 1227–1237. https://doi.org/10.1016/j.gim.2022.02.005

Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé‐Pichon, A., Emrick, L., Faivre, L., Fasano, M. B., … Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation, 43(2), 266–282. Portico. https://doi.org/10.1002/humu.24308

Chiu, N., Lee, W., Liu, P.-K., Levi, S. R., Wang, H.-H., Chen, N., Kang, E. Y.-C., Seo, G. H., Lee, H., Liu, L., Wu, W.-C., Tsai, S. H., & Wang, N.-K. (2021). A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. Ophthalmic Genetics, 43(3), 378–384. https://doi.org/10.1080/13816810.2021.2010773