Constance Leonie Smith-Hicks

Assistant Professor

20002019

Research output per year

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Research Output

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions

Li, X., Nusbaum, R., Smith-Hicks, C. L., Jamal, L., Dixon, S. & Mahida, S., Apr 1 2019, In : Journal of Genetic Counseling. 28, 2, p. 304-312 9 p.

Research output: Contribution to journalArticle

  • De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C. L., Stegmann, A. P. A., Stöbe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., Feb 7 2019, In : American Journal of Human Genetics. 104, 2, p. 203-212 10 p.

    Research output: Contribution to journalArticle

  • Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

    Kadam, S. D., Sullivan, B. J., Goyal, A., Blue, M. E. & Smith-Hicks, C., Oct 2 2019, In : International journal of molecular sciences. 20, 20, 5098.

    Research output: Contribution to journalArticle

    Open Access
  • A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

    Nguyen, T. T. M., Mahida, S., Smith-Hicks, C. L. & Campeau, P. M., Jan 1 2018, (Accepted/In press) In : Human Mutation.

    Research output: Contribution to journalArticle