Research output per year
Research output per year
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.
Clinical interests
Pediatric neurological disorders, epilepsy, neurogenetic disorders, musculoskeletal disorders.
Keywords
- COVID-19
Available to Mentor:
- PhD/MSTP Students
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Collaborations and top research areas from the last five years
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Caregiver perspectives on the continued impact of the COVID-19 pandemic on children with intellectual/developmental disabilities
Northrup, R. A., Jones, E., Singh, V., Holingue, C., Meck, M., Gurnett, C. A., van Stone, M. & Kalb, L. G., 2023, In: Frontiers in Pediatrics. 11, 1196275.Research output: Contribution to journal › Article › peer-review
Open Access -
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Gurnett, C. A., Smyth, M. D., Gurnett, C. A. & Smyth, M. D., Feb 1 2023, In: Nature Genetics. 55, 2, p. 209-220 12 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
Myosin binding protein h dominates the "c-zone" in ultrafast swimming muscles of developing zebrafish
Mead, A. F., Wood, N. B., Nelson, S. R., Kennedy, G. G., Ploysangngam, A., Ebert, A. M., Johnson, A., Gurnett, C. A., Previs, M. J. & Warshaw, D. M., Feb 10 2023, In: Biophysical Journal. 122, 3S1, p. 28aResearch output: Contribution to journal › Article › peer-review
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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
Tayebi, N., Leon-Ricardo, B., McCall, K., Mehinovic, E., Engelstad, K., Huynh, V., Turner, T. N., Weisenberg, J., Thio, L. L., Hruz, P., Williams, R. S. B., De Vivo, D. C., Petit, V., Haller, G. & Gurnett, C. A., May 2023, In: Annals of Clinical and Translational Neurology. 10, 5, p. 787-801 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Recommendations for SARS-CoV-2 Testing in Children With Disabilities and Medical Complexity
Gemmell, M., Sherby, M. R., Walsh, T. J., Kalb, L. G., Johnson, S. B., Coller, R. J., DeMuri, G. P., Nuthals, E., McBride, J., Newland, J. G. & Gurnett, C. A., Jul 1 2023, In: Pediatrics. 152, e2022060352G.Research output: Contribution to journal › Article › peer-review