• 862 Citations
  • 14 h-Index
20072020

Research output per year

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

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Research Output

A molecular basis for neurofibroma-associated skeletal manifestations in NF1

Ma, Y., Gross, A. M., Dombi, E., Pemov, A., Choi, K., Chaney, K., Rhodes, S. D., Angus, S. P., Sciaky, N., Clapp, D. W., Ratner, N., Widemann, B. C., Rios, J. J. & Elefteriou, F., 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

  • Are Some Randomized Clinical Trials Impossible?

    Rios, J. J., Richards, B. S., Stevenson, D. A., Oberlander, B., Viskochil, D., Gross, A. M., Dombi, E., Widemann, B. C., Plotkin, S. R., May, C. J., Ullrich, N. J., Goldstein, R. Y., Jain, V. & Schorry, E. K., 2020, (Accepted/In press) In : Journal of Pediatric Orthopaedics.

    Research output: Contribution to journalArticle

  • Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

    Zhao, S., Zhang, Y., Chen, W., Li, W., Wang, S., Wang, L., Zhao, Y., Lin, M., Ye, Y., Lin, J., Zheng, Y., Liu, J., Zhao, H., Yan, Z., Yang, Y., Huang, Y., Lin, G., Chen, Z., Zhang, Z., Liu, S. & 41 others, Jin, L., Wang, Z., Chen, J., Niu, Y., Li, X., Wu, Y., Wang, Y., Du, R., Gao, N., Zhao, H., Yang, Y., Liu, Y., Tian, Y., Li, W., Zhao, Y., Liu, J., Yu, B., Zhang, N., Yu, K., Yang, X., Li, S., Xu, Y., Hu, J., Liu, Z., Shen, J., Zhang, S., Su, J., Khanshour, A. M., Kidane, Y. H., Ramo, B., Rios, J. J., Liu, P., Sutton, V. R., Posey, J. E., Wu, Z., Qiu, G., Wise, C. A., Zhang, F., Lupski, J. R., Zhang, J. & Wu, N., 2020, (Accepted/In press) In : Journal of medical genetics. 106823.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

    Patel, C., Khanshour, A. M., Wilkes, D., Rios, J. J., Sheff, K. W., Nassi, L. & Wise, C. A., Aug 1 2020, In : Clinical Case Reports. 8, 8, p. 1452-1457 6 p.

    Research output: Contribution to journalArticle

    Open Access
  • 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 2020, In : Human mutation. 41, 1, p. 182-195 14 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations