List of Publications
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Zhao, Y., Diacou, A., Johnston, H. R., Musfee, F. I., McDonald-McGinn, D. M., McGinn, D., Crowley, T. B., Repetto, G. M., Swillen, A., Breckpot, J., Vermeesch, J. R., Kates, W. R., Digilio, M. C., Unolt, M., Marino, B., Pontillo, M., Armando, M., di Fabio, F., Vicari, S., … Morrow, B. E.
American Journal of Human Genetics, 106(1), 26–40. https://doi.org/10.1016/j.ajhg.2019.11.010
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer, M., Edmondson, A. C., Khetarpal, S. A., Alesi, V., Zaki, M. S., Rostasy, K., Madsen, C. G., Lepri, F. R., Sinibaldi, L., Cusmai, R., Novelli, A., Issa, M. Y., Fenger, C. D., Abou Jamra, R., Reutter, H., Briuglia, S., Agolini, E., Hansen, L., Petäjä-Repo, U. E., … Møller, R. S. (2020).
Brain : A Journal of Neurology, 143(4), 1114–1126. https://doi.org/10.1093/brain/awaa063