Constance Leonie Smith-Hicks

Assistant Professor

20002022

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  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

    Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., Heide, S., & 16 othersFont-Montgomery, E., Heid, C., Hamm, J. A., Love, D. R., Thabet, F., Misra, V. K., Cunningham, M., Leal, S. M., Jarvela, I., Normand, E. A., Zou, F., Helal, M., Keren, B., Torti, E., Chung, W. K. & Schrauwen, I., Jul 1 2022, In: Journal of medical genetics. 59, 7, p. 669-677 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Erratum: De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy (The American Journal of Human Genetics (2021) 108(1) (186–193), (S0002929720304389), (10.1016/j.ajhg.2020.12.002))

    Djordjevic, D., Pinard, M., Gauthier, M. S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B. & Yoon, G., Apr 7 2022, In: American journal of human genetics. 109, 4, p. 759-763 5 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

    Helman, G., Zarekiani, P., Tromp, S. A. M., Andrews, A., Botto, L. D., Bonkowsky, J. L., Chassevent, A., Giorgio, E., Pippucci, T., Wei, S., Smith-Hicks, C., Vaula, G., Willemsen, M. A. A. P., Schimmel, M., Vollert, K., Shimizu, F., Kanda, T., Lynch, M., Roscioli, T., Taft, R. J., & 4 othersSimons, C., Bugiani, M., Kuijpers, T. W. & van der Knaap, M. S., 2022, (Accepted/In press) In: Annals of neurology.

    Research output: Contribution to journalArticlepeer-review

  • mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

    Calhoun, J. D., Aziz, M. C., Happ, H. C., Gunti, J., Gleason, C., Mohamed, N., Zeng, K., Hiller, M., Bryant, E., Mithal, D. S., Bellinski, I., Kinsley, L., Grimmel, M., Schwaibold, E. M. C., Smith-Hicks, C., Chassevent, A., Scala, M., Accogli, A., Torella, A., Striano, P., & 9 othersCapra, V., Bird, L. M., Ben-Sahra, I., Ekhilevich, N., Hershkovitz, T., Weiss, K., Millichap, J., Gerard, E. E. & Carvill, G. L., Jun 1 2022, In: Brain. 145, 6, p. 1939-1948 10 p.

    Research output: Contribution to journalArticlepeer-review

  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

    Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., & 85 othersRodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., Oct 7 2021, In: American journal of human genetics. 108, 10, p. 2006-2016 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access