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  • Research Output

    A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element

    Justice, C. M., Kim, J., Kim, S. D., Kim, K., Yagnik, G., Cuellar, A., Carrington, B., Lu, C. L., Sood, R., Boyd, S. & Wilson, A. F., Nov 1 2017, In : American Journal of Medical Genetics, Part A. 173, 11, p. 2893-2897 5 p.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    ER egress of invariant chain isoform p35 requires direct binding to MHCII molecules and is inhibited by the NleA virulence factor of enterohaemorrhagic Escherichia coli

    Cloutier, M., Gauthier, C., Fortin, J. S., Genève, L., Kim, K., Gruenheid, S., Kim, J. & Thibodeau, J., 2015, In : Human Immunology. 76, 4, p. 292-296 5 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

    Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H. S., Savarirayan, R., Amor, D., Kakadia, P. M., Lindig, T., Kagan, K. O., Becker, J., Boyd, S., Wollnik, B., Semler, O., Bohlander, S. K., Kim, J. & 1 others, Netzer, C., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 432-439 8 p.

    Research output: Contribution to journalArticle

  • 72 Scopus citations