Research output per year
Research output per year
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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Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy
Craven, M., Vajravelu, M. E., Shekdar, K. V., Levine, M. A., Mumm, S., Whyte, M. P. & Mancilla, E. E., May 2023, In: Bone. 170, 116698.Research output: Contribution to journal › Article › peer-review
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Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype
Ma, N. S., Mumm, S., Takahashi, S. & Levine, M. A., Feb 2023, In: Current Osteoporosis Reports. 21, 1, p. 85-94 10 p.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations -
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Turan, S., Mumm, S., Alavanda, C., Kaygusuz, B. S., Gurpinar Tosun, B., Arman, A., Huskey, M., Guran, T., Duan, S., Bereket, A. & Whyte, M. P., Aug 2022, In: JBMR Plus. 6, 8, e10663.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Periarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane “huffing”
Salles Rosa Neto, N., Englert, D., McAlister, W. H., Mumm, S., Mills, D., Veis, D. J., Burshell, A., Boyde, A. & Whyte, M. P., Jul 2022, In: Bone. 160, 116421.Research output: Contribution to journal › Article › peer-review
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X-Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women
Dahir, K. M. C., Black, M., Gottesman, G. S., Imel, E. A., Mumm, S., Nichols, C. M. & Whyte, M. P., Dec 2022, In: JBMR Plus. 6, 12, e10692.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations