If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where Carol A Wise is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Scoliosis Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Juvenile Arthritis Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Ribonuclease P Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1986 2019

  • 7486 Citations
  • 40 h-Index
  • 101 Article
  • 4 Chapter
  • 1 Book
  • 1 Conference contribution
1 Citation (Scopus)

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., de Silva, D. C., Duker, A. L., Sillence, D., Wise, C. A., Jackson, A. P., Murina, O. & Reijns, M. A. M., Jan 1 2019, In : Human Mutation. 40, 8, p. 1063-1070 8 p.

Research output: Contribution to journalArticle

Open Access
Adenosine Triphosphate
Adenosine Diphosphate
Body Size

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., Jan 1 2019, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Open Access
Chromosome Duplication
Electronic Health Records

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

Chen, W., Lin, J., Wang, L., Li, X., Zhao, S., Liu, J., Akdemir, Z. C., Zhao, Y., Du, R., Ye, Y., Song, X., Zhang, Y., Yan, Z., Yang, X., Lin, M., Shen, J., Wang, S., Gao, N., Yang, Y., Liu, Y. & 16 others, Li, W., Liu, J., Zhang, N., Yang, X., Xu, Y., Zhang, J., Delgado, M. R., Posey, J. E., Qiu, G., Rios, J. J., Liu, P., Wise, C. A., Zhang, F., Wu, Z., Lupski, J. R. & Wu, N., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Gene Dosage
Genetic Models
9 Citations (Scopus)

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Haller, G., McCall, K., Jenkitkasemwong, S., Sadler, B., Antunes, L., Nikolov, M., Whittle, J., Upshaw, Z., Shin, J., Baschal, E., Cruchaga, C., Harms, M., Raggio, C., Morcuende, J. A., Giampietro, P., Miller, N. H., Wise, C., Gray, R. S., Solnica-Krezel, L., Knutson, M. & 2 others, Dobbs, M. B. & Gurnett, C. A., Dec 1 2018, In : Nature Communications. 9, 1, 4171.

Research output: Contribution to journalArticle

blood pressure
5 Citations (Scopus)

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Japan Scoliosis Clinical Research Group (JSCRG) & Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Dec 1 2018, In : Scientific Reports. 8, 1, 11575.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Far East
Computer Simulation