List of Publications
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SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben‐Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T., … Goldberg, E. M. (2020).
Annals of Neurology, 88(2), 348–362. https://doi.org/10.1002/ana.25809
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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., … Depienne, C. (2020).
Genetics in Medicine,22(3), 524–537. https://doi.org/10.1038/s41436-019-0657-0
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Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech, M., Brunet, T., Škorvánek, M., Blaschek, A., Vill, K., Hanker, B., Hüning, I., Haň, V., Došekova, P., Gdovinová, Z., Alhaddad, B., Berutti, R., Strom, T. M., Růžička, E., Kamsteeg, E.-J., van der Smagt, J. J., Wagner, M., Jech, R., & Winkelmann, J. (2020).
Parkinsonism & Related Disorders, 77, 70–75. https://doi.org/10.1016/j.parkreldis.2020.06.027
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A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.
Zeidler, S., Severijnen, L. A., de Boer, H., van der Toorn, E. C., Ruivenkamp, C. A. L., Bijlsma, E. K., & Willemsen, R. (2021).
Gene, 768, 145298. https://doi.org/10.1016/j.gene.2020.145298
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Variants in nuclear factor I genes influence growth and development
Zenker, M., Bunt, J., Schanze, I., Schanze, D., Piper, M., Priolo, M., Gerkes, E. H., Gronostajski, R. M., Richards, L. J., Vogt, J., Wessels, M. W., & Hennekam, R. C. (2019).
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181(4), 611–626. https://doi.org/10.1002/ajmg.c.31747
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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