Christina Gurnett

Professor of Neurology, Professor of Orthopaedic Surgery, Professor of Pediatrics

    • 5364 Citations
    1993 …2020

    Research output per year

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    Personal profile

    Research interests

    Our major research interest is the genetic basis of musculoskeletal diseases affecting children, including clubfoot and scoliosis. We utilize genome wide linkage analysis to identify disease loci in large families, and then employ association analysis to identify genetic susceptibility factors. Animal models of congenital limb anomalies are also being developed based on the discovery of genes involved in human disease. Additional areas of interest are in the genetics of epilepsy, sleepwalking, and multiple sclerosis.

    Areas of Clinical Interest

    Pediatric neurological disorders, epilepsy, neurogenetic disorders, musculoskeletal disorders.


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    Research Output

    ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

    Surface, L. E., Burrow, D. T., Li, J., Park, J., Kumar, S., Lyu, C., Song, N., Yu, Z., Rajagopal, A., Bae, Y., Lee, B. H., Mumm, S., Gu, C. C., Baker, J. C., Mohseni, M., Sum, M., Huskey, M., Duan, S., Bijanki, V. N., Civitelli, R. & 18 others, Gardner, M. J., McAndrew, C. M., Ricci, W. M., Gurnett, C. A., Diemer, K., Wan, F., Costantino, C. L., Shannon, K. M., Raje, N., Dodson, T. B., Haber, D. A., Carette, J. E., Varadarajan, M., Brummelkamp, T. R., Birsoy, K., Sabatini, D. M., Haller, G. & Peterson, T. R., May 20 2020, In : Science translational medicine. 12, 544, eaav9166.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

    Kvon, E. Z., Zhu, Y., Kelman, G., Novak, C. S., Plajzer-Frick, I., Kato, M., Garvin, T. H., Pham, Q., Harrington, A. N., Hunter, R. D., Godoy, J., Meky, E. M., Akiyama, J. A., Afzal, V., Tran, S., Escande, F., Gilbert-Dussardier, B., Jean-Marçais, N., Hudaiberdiev, S., Ovcharenko, I. & 7 others, Dobbs, M. B., Gurnett, C. A., Manouvrier-Hanu, S., Petit, F., Visel, A., Dickel, D. E. & Pennacchio, L. A., Mar 19 2020, In : Cell. 180, 6, p. 1262-1271.e15

    Research output: Contribution to journalArticle

    Open Access
  • 9 Scopus citations

    Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation

    Sadler, B., Kuensting, T., Strahle, J., Park, T. S., Smyth, M., Limbrick, D. D., Dobbs, M. B., Haller, G. & Gurnett, C. A., May 2020, In : Pediatric Neurology. 106, p. 32-37 6 p.

    Research output: Contribution to journalArticle

  • The cartilage matrisome in adolescent idiopathic scoliosis

    Wise, C. A., Sepich, D., Ushiki, A., Khanshour, A. M., Kidane, Y. H., Makki, N., Gurnett, C. A., Gray, R. S., Rios, J. J., Ahituv, N. & Solnica-Krezel, L., Dec 1 2020, In : Bone Research. 8, 1, 13.

    Research output: Contribution to journalReview article

    Open Access
  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

    Sadler, B., Haller, G., Antunes, L., Bledsoe, X., Morcuende, J., Giampietro, P., Raggio, C., Miller, N., Kidane, Y., Wise, C. A., Amarillo, I., Walton, N., Seeley, M., Johnson, D., Jenkins, C., Jenkins, T., Oetjens, M., Tong, R. S., Druley, T. E., Dobbs, M. B. & 1 others, Gurnett, C. A., Jul 1 2019, In : Journal of Medical Genetics. 56, 7, p. 427-433 7 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations