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20072023

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  • Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

    Paria, N., Khalid, A., Shen, B., Lemoine, B., Chan, J., Kidane, Y. H., Oxendine, I., Cornelia, R., Wise, C. A. & Rios, J. J., Feb 2023, In: Journal of Bone and Mineral Research. 38, 2, p. 288-299 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus

    De Blank, P. M. K., Gross, A. M., Akshintala, S., Blakeley, J. O., Bollag, G., Cannon, A., Dombi, E., Fangusaro, J., Gelb, B. D., Hargrave, D., Kim, A. R., Klesse, L. J., Loh, M., Martin, S., Moertel, C., Packer, R., Payne, J. M., Rauen, K. A., Rios, J. J., Robison, N., & 12 othersSchorry, E. K., Shannon, K., Stevenson, D. A., Stieglitz, E., Ullrich, N. J., Walsh, K. S., Weiss, B. D., Wolters, P. L., Yohay, K., Yohe, M. E., Widemann, B. C. & Fisher, M. J., Nov 1 2022, In: Neuro-oncology. 24, 11, p. 1845-1856 12 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    17 Scopus citations
  • 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., Jan 2021, In: Journal of Pediatric Orthopaedics. 41, 1, p. e90-e93

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Biallelic variants in RNU12 cause CDAGS syndrome

    Xing, C., Kanchwala, M., Rios, J. J., Hyatt, T., Wang, R. C., Tran, A., Dougherty, I., Tovar-Garza, A., Purnadi, C., Kumar, M. G., Berk, D., Shinawi, M., Irvine, A. D., Toledo-Bahena, M., Agim, N. G. & Glass, D. A., Aug 2021, In: Human mutation. 42, 8, p. 1042-1052 11 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • 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 othersJin, 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., Jan 1 2021, In: Journal of medical genetics. 58, 1, p. 41-47 7 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations