Rodan, L. H., Spillmann, R. C., Kurata, H. T., Lamothe, S. M., Maghera, J., Jamra, R. A., Alkelai, A., Antonarakis, S. E., Atallah, I., Bar-Yosef, O., Bilan, F., Bjorgo, K., Blanc, X., Van Bogaert, P., Bolkier, Y., Burrage, L. C., Christ, B. U., Granadillo, J. L., Dickson, P., … Shashi, V. (2021). Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genetics in Medicine, 23(10), 1922–1932. https://doi.org/10.1038/s41436-021-01232-8

May, H. J., Jeong, J., Revah-Politi, A., Cohen, J. S., Chassevent, A., Baptista, J., Baugh, E. H., Bier, L., Bottani, A., Te Carminho A. Rodrigues, M. resa, Conlon, C., Fluss, J., Guipponi, M., Kim, C. A., Matsumoto, N., Person, R., Primiano, M., Rankin, J., Shinawi, M., … Anyane-Yeboa, K. (2021). Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. Genetics in Medicine, 23(10), 1912–1921. https://doi.org/10.1038/s41436-021-01222-w

Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T. C., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., … Reutter, H. (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genetics in Medicine, 23(9), 1715–1725. https://doi.org/10.1038/s41436-021-01196-9

Eddiry, S., Diene, G., Molinas, C., Salles, J., Auriol, F. C., Gennero, I., Bieth, E., Skryabin, B. V., Rozhdestvensky, T. S., Burnett, L. C., Leibel, R. L., Tauber, M., & Salles, J. P. (2021). SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome. Genetics in Medicine, 23(9), 1664–1672. https://doi.org/10.1038/s41436-021-01185-y

Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V.-F., Peltonen, S., Rauen, K. A., Riccardi, V., … Plotkin, S. R. (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 23(8), 1506–1513. https://doi.org/10.1038/s41436-021-01170-5