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
Fingerprint
Dive into the research topics where Christina Gurnett is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
An adult with KCNA2-related epilepsy and ataxia
DeKorver, N. W., Zhao, W., Butler, M. R., Di Luca, D. G., Gurnett, C. & Nascimento, F., Apr 2024, In: Epileptic Disorders. 26, 2, p. 264-266 3 p.Research output: Contribution to journal › Article › peer-review
-
Assessment of COVID-19 Messaging Strategies to Increase Testing for Students With Intellectual and Developmental Disabilities
Walsh, T. J., Kalb, L. G., Gemmell, M., Liu, J., Caburnay, C. A., Gurnett, C. A. & Newland, J. G., Jun 2024, In: Journal of School Health. 94, 6, p. 551-561 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Yu, H., Khanshour, A. M., Ushiki, A., Otomo, N., Koike, Y., Einarsdottir, E., Fan, Y., Antunes, L., Kidane, Y. H., Cornelia, R., Sheng, R. R., Zhang, Y., Pei, J., Grishin, N. V., Evers, B. M., Cheung, J. P. Y., Herring, J. A., Terao, C., Song, Y. Q. & Gurnett, C. A. & 5 others, , 2024, In: eLife. 13, RP89762.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinical variants paired with phenotype: A rich resource for brain gene curation
Brain Gene Registry Consortium, Mar 2024, In: Genetics in Medicine. 26, 3, 101035.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
Charng, W. L., Nikolov, M., Shrestha, I., Seeley, M. A., Josyula, N. S., Justice, A. E., Dobbs, M. B. & Gurnett, C. A., Jun 20 2024, In: Journal of Medical Genetics. 61, 7, p. 699-706 8 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations