• 4914 Citations
1988 …2020

Research output per year

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Personal profile

Research interests

Molecular genetics of human bone and mineral diseases, including juvenile Paget’s disease, metachondromatosis, hypophosphatasia, hypophosphatemic rickets, spondyloepiphyseal dysplasia tarda, and others. We study a variety of heritable bone diseases, identifying the genes and precise genetic mutations that cause these disorders, and examining how these mutations disrupt signaling pathways/bone turnover, to elucidate the pathobiology of these disorders.

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Research Output

  • 4914 Citations
  • 101 Article
  • 6 Letter
  • 5 Review article
  • 1 Comment/debate

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

Owhonda, R. A., Wells, J. E., Lloyd, E. W., Mumm, S. & Kimonis, V., Jul 1 2020, In : JBJS case connector. 10, 3, p. e1900400

Research output: Contribution to journalArticle

  • ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

    Surface, L. E., Burrow, D. T., Li, J., Park, J., Kumar, S., Lyu, C., Song, N., Yu, Z., Rajagopal, A., Bae, Y., Lee, B. H., Mumm, S., Gu, C. C., Baker, J. C., Mohseni, M., Sum, M., Huskey, M., Duan, S., Bijanki, V. N., Civitelli, R. & 18 others, Gardner, M. J., McAndrew, C. M., Ricci, W. M., Gurnett, C. A., Diemer, K., Wan, F., Costantino, C. L., Shannon, K. M., Raje, N., Dodson, T. B., Haber, D. A., Carette, J. E., Varadarajan, M., Brummelkamp, T. R., Birsoy, K., Sabatini, D. M., Haller, G. & Peterson, T. R., May 20 2020, In : Science translational medicine. 12, 544, eaav9166.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

    Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., McAlister, W. H. & Whyte, M. P., Jan 2020, In : Bone. 130, 115047.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

    Iwamoto, S. J., Rothman, M. S., Duan, S., Baker, J. C., Mumm, S. & Whyte, M. P., Apr 2020, In : Bone. 133, 115224.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

    Lin, E. L., Gottesman, G. S., McAlister, W. H., Bijanki, V. N., Mack, K. E., Griffin, D. M., Mumm, S. & Whyte, M. P., Jul 2020, In : Bone. 136, 115322.

    Research output: Contribution to journalArticle

  • 2 Scopus citations